Variant report

Variant	rs60257855
Chromosome Location	chr7:100026780-100026781
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr7:100025735-100027621	Hela-S3	cervix:	n/a	chr7:100027575-100027585 chr7:100026944-100026953
2	E2F6	chr7:100025267-100027710	H1-hESC	embryonic stem cell:	n/a	chr7:100025863-100025870 chr7:100026011-100026025 chr7:100025863-100025870 chr7:100027410-100027419 chr7:100025861-100025872 chr7:100025862-100025871 chr7:100025941-100025950 chr7:100027323-100027332 chr7:100026924-100026933 chr7:100025862-100025870 chr7:100025862-100025874 chr7:100025863-100025870
3	MYC	chr7:100026741-100027132	K562	blood:	n/a	chr7:100026944-100026953
4	RFX5	chr7:100025765-100027591	Hela-S3	cervix:	n/a	n/a
5	CBX3	chr7:100026762-100027263	K562	blood:	n/a	n/a
6	POLR2A	chr7:100025751-100028631	GM12892	blood:	n/a	n/a
7	PAX5	chr7:100025547-100028145	GM12878	blood:	n/a	chr7:100027410-100027419 chr7:100027366-100027375
8	PML	chr7:100025656-100027778	MCF-7	breast:	n/a	n/a
9	CREB1	chr7:100026658-100027138	A549	lung:	n/a	n/a
10	POLR2A	chr7:100025653-100032091	GM12878	blood:	n/a	n/a
11	SP4	chr7:100025612-100027744	H1-hESC	embryonic stem cell:	n/a	chr7:100026919-100026935 chr7:100026492-100026503 chr7:100026838-100026854
12	POLR2A	chr7:100026115-100026789	A549	lung:	n/a	n/a
13	NRF1	chr7:100025743-100028096	GM12878	blood:	n/a	chr7:100027409-100027420 chr7:100026982-100026993 chr7:100027319-100027333 chr7:100025940-100025954 chr7:100027322-100027331 chr7:100025940-100025951 chr7:100027322-100027336 chr7:100025940-100025951 chr7:100027409-100027423 chr7:100027322-100027333 chr7:100026924-100026933 chr7:100025940-100025949 chr7:100025942-100025951
14	GABPA	chr7:100025566-100028962	K562	blood:	n/a	chr7:100027409-100027420 chr7:100027319-100027333 chr7:100025940-100025954 chr7:100027322-100027331 chr7:100027322-100027336 chr7:100025940-100025951 chr7:100027409-100027423 chr7:100027322-100027333 chr7:100026924-100026933 chr7:100025940-100025949 chr7:100025942-100025951
15	FOS	chr7:100026718-100027099	MCF10A-Er-Src	breast:	n/a	chr7:100026923-100026932
16	GABPA	chr7:100025468-100027226	SK-N-SH	brain:	n/a	chr7:100025940-100025954 chr7:100025940-100025951 chr7:100026924-100026933 chr7:100025940-100025949 chr7:100025942-100025951
17	POLR2A	chr7:100025752-100027995	HepG2	liver:	n/a	n/a
18	NR2F2	chr7:100025392-100028801	K562	blood:	n/a	n/a
19	BHLHE40	chr7:100025725-100028316	GM12878	blood:	n/a	chr7:100026063-100026079
20	ATF3	chr7:100025721-100027216	A549	lung:	n/a	chr7:100026893-100026906 chr7:100026924-100026933
21	SP4	chr7:100025566-100027287	H1-hESC	embryonic stem cell:	n/a	chr7:100026919-100026935 chr7:100026492-100026503 chr7:100026838-100026854
22	POLR2A	chr7:100025819-100028997	K562	blood:	n/a	n/a
23	MAX	chr7:100026778-100027540	K562	blood:	n/a	chr7:100026944-100026953
24	POLR2A	chr7:100025689-100027930	PBDE	blood:	n/a	n/a
25	RCOR1	chr7:100025682-100028267	GM12878	blood:	n/a	n/a
26	TAF1	chr7:100025693-100028086	SK-N-SH	brain:	n/a	n/a
27	MAFK	chr7:100026669-100027190	HepG2	liver:	n/a	n/a
28	BHLHE40	chr7:100025849-100027685	HepG2	liver:	n/a	chr7:100026063-100026079
29	ZNF143	chr7:100025729-100027563	Hela-S3	cervix:	n/a	chr7:100026022-100026040 chr7:100026024-100026033 chr7:100026022-100026031
30	TAF1	chr7:100025669-100027873	H1-neurons	neurons:	n/a	n/a
31	GTF2F1	chr7:100025702-100027275	Hela-S3	cervix:	n/a	n/a
32	KAP1	chr7:100025622-100026963	U2OS	brain:	n/a	n/a
33	POLR2A	chr7:100025745-100027965	HepG2	liver:	n/a	n/a
34	CEBPB	chr7:100026416-100027151	K562	blood:	n/a	chr7:100026877-100026888
35	ELF1	chr7:100025584-100027755	MCF-7	breast:	n/a	chr7:100026064-100026076
36	EGR1	chr7:100025723-100027445	K562	blood:	n/a	chr7:100027323-100027332 chr7:100026021-100026045 chr7:100026923-100026933 chr7:100027410-100027419 chr7:100026924-100026934 chr7:100025941-100025950 chr7:100027010-100027024 chr7:100027229-100027242 chr7:100026454-100026468
37	RCOR1	chr7:100025702-100027606	K562	blood:	n/a	n/a
38	MAZ	chr7:100026034-100028082	HepG2	liver:	n/a	chr7:100027575-100027585 chr7:100026944-100026953
39	MYC	chr7:100025681-100028419	K562	blood:	n/a	chr7:100027575-100027585 chr7:100026944-100026953
40	YY1	chr7:100026694-100028201	HepG2	liver:	n/a	chr7:100026924-100026933 chr7:100027646-100027658
41	RCOR1	chr7:100025435-100027542	K562	blood:	n/a	n/a
42	NFYA	chr7:100026116-100027128	Hela-S3	cervix:	n/a	n/a
43	ELK1	chr7:100025761-100027165	GM12878	blood:	n/a	n/a
44	MAX	chr7:100025321-100028257	HCT-116	colon:	n/a	chr7:100027575-100027585 chr7:100026944-100026953
45	POLR2A	chr7:100025780-100027981	H1-hESC	embryonic stem cell:	n/a	n/a
46	TAF1	chr7:100025796-100027986	H1-hESC	embryonic stem cell:	n/a	n/a
47	IRF1	chr7:100025736-100028321	K562	blood:	n/a	chr7:100026838-100026852 chr7:100026923-100026937 chr7:100025758-100025769 chr7:100025806-100025820 chr7:100026818-100026832
48	CREB1	chr7:100025648-100027823	HepG2	liver:	n/a	n/a
49	POLR2A	chr7:100025635-100029589	Hela-S3	cervix:	n/a	n/a
50	SPI1	chr7:100026428-100026784	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100026757-100026807	MCF-7	breast:	n/a
2	chr7:100026757-100026807	GM12892	blood:	n/a
3	chr7:100026757-100026807	NH-A	brain:	n/a
4	chr7:100026757-100026807	HRPEpiC	eye:	n/a
5	chr7:100026757-100026807	NT2-D1	testis:	n/a
6	chr7:100026757-100026807	LNCaP	prostate:	n/a
7	chr7:100026757-100026807	HCF	heart:	n/a
8	chr7:100026757-100026807	U87	brain:	n/a
9	chr7:100026757-100026807	PANC-1	pancreas:	n/a
10	chr7:100026757-100026807	SK-N-SH_RA	brain:	n/a
11	chr7:100026757-100026807	BJ	skin:	n/a
12	chr7:100026757-100026807	Hepatocyte	liver:	n/a
13	chr7:100026757-100026807	SAEC	small airway:	n/a
14	chr7:100026757-100026807	NHBE	bronchial:	n/a
15	chr7:100026757-100026807	Jurkat	blood:	n/a
16	chr7:100026757-100026807	AG10803	skin:	n/a
17	chr7:100026757-100026807	AG09309	skin:	n/a
18	chr7:100026757-100026807	HNPCEpiC	eye:	n/a
19	chr7:100026757-100026807	NB4	blood:	n/a
20	chr7:100026757-100026807	HepG2	liver:	n/a
21	chr7:100026757-100026807	PrEC	prostate:	n/a
22	chr7:100026757-100026807	GM19239	blood:	n/a
23	chr7:100026757-100026807	AG04450	lung:	fetal
24	chr7:100026757-100026807	HRCEpiC	kidney:	n/a
25	chr7:100026757-100026807	AG04449	skin:	fetal
26	chr7:100026757-100026807	MCF10A-Er-Src	breast:	n/a
27	chr7:100026757-100026807	HCT-116	colon:	n/a
28	chr7:100026757-100026807	IMR90	lung:	fetal
29	chr7:100026757-100026807	HMEC	breast:	n/a
30	chr7:100026757-100026807	ovcar-3	ovarian:	n/a
31	chr7:100026757-100026807	GM06990	blood:	n/a
32	chr7:100026757-100026807	T-47D	breast:	n/a
33	chr7:100026757-100026807	HAEpiC	amniotic membrane:	n/a
34	chr7:100026757-100026807	AoSMC	blood vessel:	n/a
35	chr7:100026757-100026807	RPTEC	kidney:	n/a
36	chr7:100026757-100026807	H1-hESC	embryonic stem cell:	embryo
37	chr7:100026757-100026807	GM12878	blood:	n/a
38	chr7:100026757-100026807	HCM	heart:	n/a
39	chr7:100026757-100026807	Hela-S3	cervix:	n/a
40	chr7:100026757-100026807	SKMC	muscle:	n/a
41	chr7:100026757-100026807	HEEpiC	esophagus:	n/a
42	chr7:100026757-100026807	SK-N-MC	brain:	n/a
43	chr7:100026757-100026807	HRE	kidney:	n/a
44	chr7:100026757-100026807	CMK	blood:	n/a
45	chr7:100026757-100026807	NHDF-neo	bronchial:	n/a
46	chr7:100026757-100026807	HCPEpiC	choroid plexus:	n/a
47	chr7:100026757-100026807	K562	blood:	n/a
48	chr7:100026757-100026807	GM12891	blood:	n/a
49	chr7:100026757-100026807	ProgFib	skin:	n/a
50	chr7:100026757-100026807	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100024810..100029555-chr7:100269638..100276218,15	K562	blood:
2	chr7:100026775..100029248-chr7:100181334..100183939,2	MCF-7	breast:
3	chr19:12906703..12907672-chr7:100026055..100026938,2	Hela-S3	cervix:
4	chr7:100026744..100027492-chr9:21559602..21560168,2	Hela-S3	cervix:
5	chr3:186500956..186502329-chr7:100025998..100027293,4	Hela-S3	cervix:
6	chr22:45559174..45559874-chr7:100026307..100027274,2	HCT-116	colon:
7	chr14:69445504..69446014-chr7:100026599..100027399,2	NB4	blood:
8	chr1:11333276..11333793-chr7:100026290..100026917,2	NB4	blood:
9	chr13:113862939..113863766-chr7:100026758..100027381,2	NB4	blood:
10	chr2:97534428..97535999-chr7:100026156..100028753,2	MCF-7	breast:
11	chr7:99932595..99935080-chr7:100025979..100028387,3	K562	blood:
12	chr7:100026422..100028068-chr7:100447854..100450517,2	K562	blood:
13	chr7:100026299..100028984-chr7:100423719..100425446,2	MCF-7	breast:
14	chr7:54826423..54827079-chr7:100026394..100026957,2	NB4	blood:
15	chr20:30192918..30193543-chr7:100026276..100026886,2	HCT-116	colon:
16	chr7:100025040..100027512-chr7:100201980..100203554,3	K562	blood:
17	chr7:100024854..100029212-chr7:100238393..100241596,5	K562	blood:
18	chr7:100025071..100027924-chr7:100727777..100730095,3	K562	blood:
19	chr7:100024700..100032514-chr7:100067180..100083143,31	K562	blood:
20	chr7:100024644..100031194-chr7:100062394..100068680,9	K562	blood:
21	chr12:53894753..53895591-chr7:100026485..100027243,2	Hela-S3	cervix:
22	chr15:60690567..60692654-chr7:100025959..100028675,2	K562	blood:
23	chr7:99933438..99934039-chr7:100026430..100027170,2	NB4	blood:
24	chr7:99677060..99680949-chr7:100024846..100027547,5	MCF-7	breast:
25	chr10:18947486..18949622-chr7:100026064..100028896,2	MCF-7	breast:
26	chr7:99743864..99749368-chr7:100025322..100029105,6	K562	blood:
27	chr6:25992373..25992904-chr7:100026300..100027196,2	NB4	blood:
28	chr1:173836944..173837510-chr7:100026649..100027328,2	Hela-S3	cervix:
29	chr7:99722088..99724453-chr7:100026043..100027872,2	K562	blood:
30	chr7:100025959..100027512-chr7:100064951..100067797,2	MCF-7	breast:
31	chr2:9563563..9564280-chr7:100026285..100026816,2	Hela-S3	cervix:
32	chr17:27044593..27045206-chr7:100026739..100027553,2	Hela-S3	cervix:
33	chr7:99062254..99063852-chr7:100026479..100028012,2	K562	blood:
34	chr12:57038967..57039812-chr7:100026048..100026885,2	NB4	blood:
35	chr1:206808295..206808962-chr7:100026349..100027385,3	Hela-S3	cervix:
36	chr3:195163282..195164231-chr7:100026450..100027141,2	Hela-S3	cervix:
37	chr1:181057486..181058350-chr7:100026311..100026900,2	Hela-S3	cervix:
38	chr14:50778888..50779520-chr7:100026301..100026963,2	NB4	blood:
39	chr7:100025569..100027511-chr7:100253508..100255447,2	K562	blood:
40	chr7:99677846..99681399-chr7:100025174..100029012,4	K562	blood:
41	chr3:41240043..41241029-chr7:100026221..100027003,2	NB4	blood:
42	chr15:50646133..50648665-chr7:100026247..100027987,2	MCF-7	breast:
43	chr7:100025231..100027840-chr7:100303669..100306614,3	K562	blood:
44	chr19:12834221..12834788-chr7:100026315..100026963,2	NB4	blood:
45	chr6:20402241..20403876-chr7:100025950..100028229,2	K562	blood:
46	chr4:1341180..1342012-chr7:100026036..100026804,2	NB4	blood:
47	chr16:30546152..30546832-chr7:100026182..100026840,2	HCT-116	colon:
48	chr4:164413226..164415880-chr7:100024994..100026878,2	MCF-7	breast:
49	chr7:100026330..100028591-chr7:100493941..100496922,3	K562	blood:
50	chr19:1269384..1270315-chr7:100026114..100026809,2	Hela-S3	cervix:

Variant related genes	Relation type
ZCWPW1	TF binding region
MEPCE	TF binding region
ZCWPW1	CpG island
MEPCE	CpG island
ENSG00000005483	Chromatin interaction
ENSG00000226328	Chromatin interaction
ENSG00000074054	Chromatin interaction
ENSG00000241468	Chromatin interaction
ENSG00000198863	Chromatin interaction
ENSG00000092853	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000099622	Chromatin interaction
ENSG00000188186	Chromatin interaction
ENSG00000125534	Chromatin interaction
ENSG00000171763	Chromatin interaction
ENSG00000152475	Chromatin interaction
ENSG00000214309	Chromatin interaction
ENSG00000256316	Chromatin interaction
ENSG00000244879	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000231365	Chromatin interaction
ENSG00000196544	Chromatin interaction
ENSG00000257999	Chromatin interaction
ENSG00000267493	Chromatin interaction
ENSG00000093000	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000160959	Chromatin interaction
ENSG00000260342	Chromatin interaction
ENSG00000231738	Chromatin interaction
ENSG00000266372	Chromatin interaction
ENSG00000133056	Chromatin interaction
ENSG00000121931	Chromatin interaction
ENSG00000102606	Chromatin interaction
ENSG00000156976	Chromatin interaction
ENSG00000136877	Chromatin interaction
ENSG00000263826	Chromatin interaction
ENSG00000166526	Chromatin interaction
ENSG00000184414	Chromatin interaction
ENSG00000260729	Chromatin interaction
ENSG00000221838	Chromatin interaction
ENSG00000114331	Chromatin interaction
ENSG00000245556	Chromatin interaction
ENSG00000144426	Chromatin interaction
ENSG00000119383	Chromatin interaction
ENSG00000196642	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000267062	Chromatin interaction
ENSG00000251141	Chromatin interaction
ENSG00000138442	Chromatin interaction
ENSG00000172716	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000165997	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000272462	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000106290	Chromatin interaction
ENSG00000171223	Chromatin interaction
ENSG00000233016	Chromatin interaction
ENSG00000087077	Chromatin interaction
ENSG00000185955	Chromatin interaction
ENSG00000171863	Chromatin interaction
ENSG00000171067	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000099968	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000125375	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000235333	Chromatin interaction
ENSG00000105926	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000137259	Chromatin interaction
ENSG00000085514	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000240541	Chromatin interaction
ENSG00000126457	Chromatin interaction
ENSG00000213614	Chromatin interaction
ENSG00000234535	Chromatin interaction
ENSG00000264229	Chromatin interaction
ENSG00000131100	Chromatin interaction
ENSG00000168036	Chromatin interaction
ENSG00000146830	Chromatin interaction
ENSG00000106351	Chromatin interaction
ENSG00000264758	Chromatin interaction
ENSG00000085365	Chromatin interaction
ENSG00000267060	Chromatin interaction
ENSG00000121716	Chromatin interaction
ENSG00000197061	Chromatin interaction
ENSG00000162783	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000106333	Chromatin interaction
ENSG00000272752	Chromatin interaction
ENSG00000146833	Chromatin interaction
ENSG00000072110	Chromatin interaction
ENSG00000261459	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000066923	Chromatin interaction
ENSG00000168758	Chromatin interaction
ENSG00000087085	Chromatin interaction
ENSG00000123607	Chromatin interaction
ENSG00000120942	Chromatin interaction
ENSG00000242798	Chromatin interaction
ENSG00000102977	Chromatin interaction
ENSG00000125968	Chromatin interaction
ENSG00000171766	Chromatin interaction
ENSG00000146826	Chromatin interaction
ENSG00000116560	Chromatin interaction
ENSG00000078319	Chromatin interaction
ENSG00000235560	Chromatin interaction
ENSG00000198551	Chromatin interaction
ENSG00000182718	Chromatin interaction
ENSG00000214253	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000136051	Chromatin interaction
ENSG00000007202	Chromatin interaction
ENSG00000169871	Chromatin interaction
ENSG00000198498	Chromatin interaction
ENSG00000138434	Chromatin interaction
ENSG00000083093	Chromatin interaction
ENSG00000143479	Chromatin interaction
ENSG00000242294	Chromatin interaction
ENSG00000105576	Chromatin interaction
ENSG00000104064	Chromatin interaction
ENSG00000108825	Chromatin interaction
ENSG00000248919	Chromatin interaction
ENSG00000201801	Chromatin interaction
ENSG00000161960	Chromatin interaction
ENSG00000166508	Chromatin interaction
ENSG00000258838	Chromatin interaction
ENSG00000176890	Chromatin interaction
ENSG00000171889	Chromatin interaction
ENSG00000122884	Chromatin interaction
ENSG00000005884	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000112996	Chromatin interaction
ENSG00000188229	Chromatin interaction
ENSG00000160917	Chromatin interaction
ENSG00000213420	Chromatin interaction
ENSG00000134824	Chromatin interaction
ENSG00000253210	Chromatin interaction
ENSG00000166997	Chromatin interaction
ENSG00000112242	Chromatin interaction
ENSG00000169908	Chromatin interaction
ENSG00000266154	Chromatin interaction
ENSG00000166925	Chromatin interaction
ENSG00000163527	Chromatin interaction
ENSG00000139546	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000110955	Chromatin interaction
ENSG00000163945	Chromatin interaction
ENSG00000139842	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000265020	Chromatin interaction
ENSG00000170421	Chromatin interaction
ENSG00000169955	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000087299	Chromatin interaction
ENSG00000130429	Chromatin interaction
ENSG00000158467	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000134107	Chromatin interaction
ENSG00000132432	Chromatin interaction
ENSG00000239569	Chromatin interaction
ENSG00000166924	Chromatin interaction
ENSG00000170540	Chromatin interaction
ENSG00000176912	Chromatin interaction
ENSG00000126226	Chromatin interaction
ENSG00000138600	Chromatin interaction
ENSG00000116874	Chromatin interaction
ENSG00000198824	Chromatin interaction
ENSG00000149485	Chromatin interaction
ENSG00000260339	Chromatin interaction
ENSG00000077080	Chromatin interaction
ENSG00000145349	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000109113	Chromatin interaction
ENSG00000171858	Chromatin interaction
ENSG00000127948	Chromatin interaction
ENSG00000224729	Chromatin interaction
ENSG00000008869	Chromatin interaction
ENSG00000063177	Chromatin interaction
ENSG00000119203	Chromatin interaction
ENSG00000207005	Chromatin interaction
ENSG00000119185	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000175198	Chromatin interaction
ENSG00000152487	Chromatin interaction
ENSG00000225830	Chromatin interaction
ENSG00000095321	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 46 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1000215	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1073	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11559117	1.00[ASN][1000 genomes]
rs11761624	1.00[ASN][1000 genomes]
rs11761725	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761784	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763414	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11763511	1.00[ASN][1000 genomes]
rs11764818	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11766202	1.00[ASN][1000 genomes]
rs11766752	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769700	1.00[ASN][1000 genomes]
rs11769886	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11771241	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11771419	0.85[EUR][1000 genomes]
rs11772580	1.00[ASN][1000 genomes]
rs11773661	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1962269	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003507	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2406253	1.00[ASN][1000 genomes]
rs2406255	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28490152	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28578163	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28629346	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28660238	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2897358	1.00[ASN][1000 genomes]
rs34989573	1.00[ASN][1000 genomes]
rs35111986	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3900792	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4074838	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4385401	1.00[ASN][1000 genomes]
rs4463351	1.00[ASN][1000 genomes]
rs4469386	1.00[ASN][1000 genomes]
rs4472444	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4989959	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60478351	1.00[ASN][1000 genomes]
rs60644673	1.00[ASN][1000 genomes]
rs60844404	1.00[ASN][1000 genomes]
rs66632384	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66648318	1.00[ASN][1000 genomes]
rs66958101	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67040465	0.86[ASN][1000 genomes]
rs67163493	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67196635	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67239991	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67315960	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67471932	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67483801	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67885733	1.00[ASN][1000 genomes]
rs68116612	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6948699	1.00[ASN][1000 genomes]
rs6953107	1.00[ASN][1000 genomes]
rs6953749	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6955362	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957928	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6962151	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970806	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6970828	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6972167	0.86[ASN][1000 genomes]
rs6974286	1.00[ASN][1000 genomes]
rs6975514	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975729	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6978739	1.00[ASN][1000 genomes]
rs6979335	1.00[ASN][1000 genomes]
rs73161759	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73161762	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73403312	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73405353	1.00[ASN][1000 genomes]
rs7783159	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7783550	0.85[EUR][1000 genomes]
rs7787620	1.00[ASN][1000 genomes]
rs7787825	1.00[ASN][1000 genomes]
rs7794485	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7800667	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803454	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7809801	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811142	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases
4	nsv527107	chr7:100014711-100064719	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	269 gene(s)	inside rSNPs	diseases
5	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
6	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
7	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
8	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases

mRNA abundance (count:46)

SNP	Gene	Cis/trans	Tissue	Source
rs60257855	PVRIG	Cis_1M	lymphoblastoid	RTeQTL
rs60257855	PILRB	Cis_1M	lymphoblastoid	RTeQTL
rs60257855	PILRB	cis	Whole Blood	GTEx
rs60257855	PILRB	cis	Adipose Subcutaneous	GTEx
rs60257855	STAG3L5P	cis	Artery Aorta	GTEx
rs60257855	PILRA	cis	Esophagus Muscularis	GTEx
rs60257855	PILRA	cis	Artery Aorta	GTEx
rs60257855	PILRB	cis	Esophagus Muscularis	GTEx
rs60257855	PILRA	cis	Stomach	GTEx
rs60257855	PILRB	cis	Artery Tibial	GTEx
rs60257855	STAG3L5P	cis	Nerve Tibial	GTEx
rs60257855	STAG3L5P	cis	Adipose Subcutaneous	GTEx
rs60257855	STAG3L5P	cis	lung	GTEx
rs60257855	STAG3L5P	cis	Skin Sun Exposed Lower leg	GTEx
rs60257855	STAG3L5P	cis	Esophagus Mucosa	GTEx
rs60257855	PILRA	cis	Nerve Tibial	GTEx
rs60257855	STAG3L5P	cis	Artery Tibial	GTEx
rs60257855	PILRA	cis	Esophagus Mucosa	GTEx
rs60257855	STAG3L5P	cis	Thyroid	GTEx
rs60257855	PILRA	cis	Heart Left Ventricle	GTEx
rs60257855	PILRA	cis	Skin Sun Exposed Lower leg	GTEx
rs60257855	PILRB	cis	Muscle Skeletal	GTEx
rs60257855	PILRB	cis	Thyroid	GTEx
rs60257855	STAG3L5P	cis	Heart Left Ventricle	GTEx
rs60257855	PVRIG2P	cis	Artery Tibial	GTEx
rs60257855	PILRB	cis	Esophagus Mucosa	GTEx
rs60257855	PILRB	cis	Artery Aorta	GTEx
rs60257855	PILRA	cis	Adipose Subcutaneous	GTEx
rs60257855	PILRB	cis	multi-tissue	Pritchard
rs60257855	PILRB	cis	Skin Sun Exposed Lower leg	GTEx
rs60257855	PVRIG2P	cis	Esophagus Mucosa	GTEx
rs60257855	PILRA	cis	Thyroid	GTEx
rs60257855	PVRIG2P	cis	Nerve Tibial	GTEx
rs60257855	PILRB	cis	Nerve Tibial	GTEx
rs60257855	STAG3L5P	cis	Muscle Skeletal	GTEx
rs60257855	PVRIG2P	cis	Adipose Subcutaneous	GTEx
rs60257855	PVRIG2P	cis	Thyroid	GTEx
rs60257855	STAG3L5P	cis	Stomach	GTEx
rs60257855	STAG3L5P	cis	Esophagus Muscularis	GTEx
rs60257855	STAG3	Cis_1M	lymphoblastoid	RTeQTL
rs60257855	PMS2P1	cis	Thyroid	GTEx
rs60257855	PILRA	cis	Artery Tibial	GTEx
rs60257855	PILRB	cis	Heart Left Ventricle	GTEx
rs60257855	PILRB	cis	lung	GTEx
rs60257855	PILRA	cis	Muscle Skeletal	GTEx
rs60257855	PVRIG2P	cis	lung	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100025400-100026800	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr7:100025400-100028200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:100025400-100028200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:100025400-100028200	Active TSS	Brain Germinal Matrix	brain
5	chr7:100025400-100028200	Active TSS	Fetal Brain Female	brain
6	chr7:100025400-100028200	Active TSS	Rectal Smooth Muscle	rectum
7	chr7:100025400-100028600	Active TSS	Fetal Kidney	kidney
8	chr7:100025400-100028800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:100025600-100026800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr7:100025600-100026800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:100025600-100027800	Active TSS	Colonic Mucosa	Colon
12	chr7:100025600-100027800	Transcr. at gene 5' and 3'	Right Atrium	heart
13	chr7:100025600-100028000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:100025600-100028200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:100025600-100028200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:100025600-100028200	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr7:100025600-100028200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:100025600-100028200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:100025600-100028200	Active TSS	Brain Angular Gyrus	brain
20	chr7:100025600-100028200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:100025600-100028200	Active TSS	Gastric	stomach
22	chr7:100025600-100028200	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr7:100025600-100028200	Active TSS	HSMM	muscle
24	chr7:100025600-100028400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr7:100025600-100028400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:100025600-100028600	Active TSS	NHLF	lung
27	chr7:100025600-100028800	Active TSS	H9 Cell Line	embryonic stem cell
28	chr7:100025800-100026800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:100025800-100027200	Active TSS	Fetal Heart	heart
30	chr7:100025800-100027800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:100025800-100028000	Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr7:100025800-100028000	Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr7:100025800-100028000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr7:100025800-100028200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:100025800-100028200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:100025800-100028200	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr7:100025800-100028200	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr7:100025800-100028200	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr7:100025800-100028200	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr7:100025800-100028200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:100025800-100028200	Active TSS	Brain Anterior Caudate	brain
42	chr7:100025800-100028200	Active TSS	Brain Cingulate Gyrus	brain
43	chr7:100025800-100028200	Active TSS	Brain Hippocampus Middle	brain
44	chr7:100025800-100028200	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr7:100025800-100028200	Active TSS	Brain Substantia Nigra	brain
46	chr7:100025800-100028200	Active TSS	Fetal Stomach	stomach
47	chr7:100025800-100028200	Active TSS	Left Ventricle	heart
48	chr7:100025800-100028200	Active TSS	Right Ventricle	heart
49	chr7:100025800-100028200	Active TSS	Thymus	Thymus
50	chr7:100025800-100028200	Active TSS	A549	lung

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Variant report

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