Variant report

Variant	rs28517382
Chromosome Location	chr12:123850197-123850198
allele	A/C
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	POLR2A	chr12:123849063-123850614	PANC-1	pancreas:	n/a	n/a
2	CTCF	chr12:123850162-123850622	IMR90	lung:	n/a	chr12:123850402-123850423 chr12:123850407-123850425
3	PML	chr12:123849614-123850634	K562	blood:	n/a	n/a
4	POLR2A	chr12:123849687-123850259	SK-N-SH	brain:	n/a	n/a
5	SIN3AK20	chr12:123849798-123850504	H1-hESC	embryonic stem cell:	n/a	n/a
6	CUX1	chr12:123849695-123850596	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:123848448-123850525	GM12878	blood:	n/a	n/a
8	NRF1	chr12:123849281-123850572	GM12878	blood:	n/a	chr12:123849886-123849897 chr12:123849886-123849900 chr12:123849448-123849457 chr12:123849886-123849895 chr12:123849888-123849897 chr12:123849885-123849896 chr12:123849883-123849897
9	ZNF143	chr12:123849619-123850564	H1-hESC	embryonic stem cell:	n/a	n/a
10	ZNF143	chr12:123849626-123850542	Hela-S3	cervix:	n/a	n/a
11	TBP	chr12:123849138-123850611	GM12878	blood:	n/a	n/a
12	MXI1	chr12:123849199-123850558	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr12:123849727-123850730	GM12878	blood:	n/a	n/a
14	MYC	chr12:123847917-123850577	NB4	blood:	n/a	chr12:123849752-123849761 chr12:123848142-123848149 chr12:123849752-123849761 chr12:123849752-123849761 chr12:123848144-123848151 chr12:123848138-123848153 chr12:123849747-123849766 chr12:123848140-123848155 chr12:123849750-123849763
15	PAX5	chr12:123850031-123850536	GM12878	blood:	n/a	chr12:123850263-123850272
16	RAD21	chr12:123850077-123850637	A549	lung:	n/a	chr12:123850405-123850424
17	SRF	chr12:123850079-123850452	GM12878	blood:	n/a	n/a
18	ATF2	chr12:123849458-123850671	GM12878	blood:	n/a	n/a
19	SIN3A	chr12:123847827-123850593	H1-hESC	embryonic stem cell:	n/a	chr12:123849267-123849280 chr12:123848960-123848973 chr12:123849753-123849762 chr12:123849273-123849281 chr12:123849751-123849760
20	YY1	chr12:123848454-123850397	GM12892	blood:	n/a	chr12:123849082-123849096 chr12:123849822-123849831 chr12:123849371-123849380 chr12:123849378-123849386 chr12:123849374-123849386 chr12:123849376-123849384 chr12:123849372-123849392 chr12:123849375-123849385 chr12:123849375-123849397
21	CEBPD	chr12:123849094-123850206	K562	blood:	n/a	n/a
22	BHLHE40	chr12:123849138-123850573	K562	blood:	n/a	chr12:123849746-123849767 chr12:123849751-123849760 chr12:123849752-123849761 chr12:123849753-123849762 chr12:123849750-123849763 chr12:123849752-123849761
23	MXI1	chr12:123849621-123850596	GM12878	blood:	n/a	n/a
24	POLR2A	chr12:123849058-123850599	SK-N-MC	brain:	n/a	n/a
25	MAX	chr12:123849111-123850598	A549	lung:	n/a	chr12:123849752-123849761 chr12:123849752-123849761 chr12:123849752-123849761 chr12:123849747-123849766 chr12:123849750-123849763
26	CREB1	chr12:123849095-123850250	A549	lung:	n/a	n/a
27	POLR2A	chr12:123849716-123850502	PBDE	blood:	n/a	n/a
28	SP1	chr12:123849589-123850605	GM12878	blood:	n/a	chr12:123849715-123849729 chr12:123849719-123849728 chr12:123849718-123849730
29	CTCF	chr12:123850161-123850541	A549	lung:	n/a	chr12:123850402-123850423 chr12:123850407-123850425
30	MAX	chr12:123849269-123850538	HUVEC	blood vessel:	n/a	chr12:123849752-123849761 chr12:123849752-123849761 chr12:123849752-123849761 chr12:123849747-123849766 chr12:123849750-123849763
31	REST	chr12:123849793-123850502	Hela-S3	cervix:	n/a	n/a
32	YY1	chr12:123849015-123850539	A549	lung:	n/a	chr12:123849082-123849096 chr12:123849822-123849831 chr12:123849371-123849380 chr12:123849378-123849386 chr12:123849374-123849386 chr12:123849376-123849384 chr12:123849372-123849392 chr12:123849375-123849385 chr12:123849375-123849397
33	POLR2A	chr12:123849545-123850583	HL-60	blood:	n/a	n/a
34	MAFK	chr12:123849747-123850575	K562	blood:	n/a	n/a
35	PAX5	chr12:123850100-123850578	GM12891	blood:	n/a	chr12:123850263-123850272
36	EP300	chr12:123849604-123850585	GM12878	blood:	n/a	chr12:123850263-123850277
37	POLR2A	chr12:123849069-123850566	H1-neurons	neurons:	n/a	n/a
38	JUND	chr12:123849200-123850561	K562	blood:	n/a	chr12:123850265-123850274 chr12:123850348-123850360
39	IRF1	chr12:123849266-123850427	K562	blood:	n/a	chr12:123850097-123850110 chr12:123850264-123850273 chr12:123850096-123850110
40	POLR2A	chr12:123849109-123850561	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr12:123848979-123850612	GM12892	blood:	n/a	n/a
42	SIN3AK20	chr12:123848829-123850552	SK-N-SH	brain:	n/a	n/a
43	RELA	chr12:123848794-123850568	GM15510	blood:	n/a	n/a
44	ZBTB33	chr12:123849087-123850198	SK-N-SH	brain:	n/a	chr12:123849787-123849802 chr12:123849252-123849262
45	MAX	chr12:123847933-123850552	K562	blood:	n/a	chr12:123849752-123849761 chr12:123848142-123848149 chr12:123849752-123849761 chr12:123849752-123849761 chr12:123848144-123848151 chr12:123848138-123848153 chr12:123849747-123849766 chr12:123848140-123848155 chr12:123849750-123849763
46	POLR2A	chr12:123849107-123850496	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr12:123849057-123850553	GM12891	blood:	n/a	n/a
48	TAF1	chr12:123848836-123850604	A549	lung:	n/a	n/a
49	E2F4	chr12:123849204-123850545	K562	blood:	n/a	chr12:123849887-123849896 chr12:123849262-123849272 chr12:123849804-123849815 chr12:123850123-123850138 chr12:123849801-123849816 chr12:123849585-123849592 chr12:123849371-123849380
50	TCF12	chr12:123850078-123850478	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123850190-123850240	AoSMC	blood vessel:	n/a
2	chr12:123850190-123850240	GM06990	blood:	n/a
3	chr12:123850190-123850240	RPTEC	kidney:	n/a
4	chr12:123850190-123850240	BJ	skin:	n/a
5	chr12:123850190-123850240	HCPEpiC	choroid plexus:	n/a
6	chr12:123850190-123850240	ECC-1	luminal epithelium:	n/a
7	chr12:123850190-123850240	Hepatocyte	liver:	n/a
8	chr12:123850190-123850240	NH-A	brain:	n/a
9	chr12:123850190-123850240	SKMC	muscle:	n/a
10	chr12:123850190-123850240	HPAEpiC	pulmonary alveolar:	n/a
11	chr12:123850190-123850240	PANC-1	pancreas:	n/a
12	chr12:123850190-123850240	MCF10A-Er-Src	breast:	n/a
13	chr12:123850190-123850240	NT2-D1	testis:	n/a
14	chr12:123850190-123850240	HRE	kidney:	n/a
15	chr12:123850190-123850240	HEEpiC	esophagus:	n/a
16	chr12:123850190-123850240	AG04450	lung:	fetal
17	chr12:123850190-123850240	U87	brain:	n/a
18	chr12:123850190-123850240	SAEC	small airway:	n/a
19	chr12:123850190-123850240	SK-N-SH	brain:	n/a
20	chr12:123850190-123850240	NHBE	bronchial:	n/a
21	chr12:123850190-123850240	T-47D	breast:	n/a
22	chr12:123850190-123850240	HCF	heart:	n/a
23	chr12:123850190-123850240	HUVEC	blood vessel:	n/a
24	chr12:123850190-123850240	SK-N-MC	brain:	n/a
25	chr12:123850190-123850240	GM12892	blood:	n/a
26	chr12:123850190-123850240	HepG2	liver:	n/a
27	chr12:123850190-123850240	AG10803	skin:	n/a
28	chr12:123850190-123850240	MCF-7	breast:	n/a
29	chr12:123850190-123850240	NHDF-neo	bronchial:	n/a
30	chr12:123850190-123850240	SK-N-SH_RA	brain:	n/a
31	chr12:123850190-123850240	H1-hESC	embryonic stem cell:	embryo
32	chr12:123850190-123850240	AG09309	skin:	n/a
33	chr12:123850190-123850240	ovcar-3	ovarian:	n/a
34	chr12:123850190-123850240	ProgFib	skin:	n/a
35	chr12:123850190-123850240	GM12878	blood:	n/a
36	chr12:123850190-123850240	NB4	blood:	n/a
37	chr12:123850190-123850240	BE2_C	brain:	n/a
38	chr12:123850190-123850240	HCT-116	colon:	n/a
39	chr12:123850190-123850240	PFSK-1	brain:	n/a
40	chr12:123850190-123850240	CMK	blood:	n/a
41	chr12:123850190-123850240	HRPEpiC	eye:	n/a
42	chr12:123850190-123850240	HRCEpiC	kidney:	n/a
43	chr12:123850190-123850240	Caco-2	colon:	n/a
44	chr12:123850190-123850240	HCM	heart:	n/a
45	chr12:123850190-123850240	PrEC	prostate:	n/a
46	chr12:123850190-123850240	HMEC	breast:	n/a
47	chr12:123850190-123850240	AG09319	gingival:	n/a
48	chr12:123850190-123850240	GM12891	blood:	n/a
49	chr12:123850190-123850240	LNCaP	prostate:	n/a
50	chr12:123850190-123850240	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:123849795..123850453-chr17:79818703..79819238,2	Hela-S3	cervix:
2	chr12:123849365..123850946-chr12:123941525..123944430,2	K562	blood:
3	chr1:247494766..247495584-chr12:123849315..123850422,3	Hela-S3	cervix:
4	chr12:123749757..123758492-chr12:123844437..123851411,15	MCF-7	breast:
5	chr12:123848585..123850676-chr17:56707936..56709681,2	MCF-7	breast:
6	chr12:123849675..123850516-chr2:122288105..122288668,2	NB4	blood:
7	chr12:123756475..123758463-chr12:123849452..123851589,2	K562	blood:
8	chr12:123849568..123850490-chr9:73032999..73033831,2	Hela-S3	cervix:
9	chr12:123847805..123850449-chr12:124195534..124198038,2	K562	blood:
10	chr12:123754032..123756441-chr12:123848296..123851530,6	K562	blood:
11	chr12:123849812..123851534-chr12:123858422..123861381,2	MCF-7	breast:
12	chr12:123847748..123850760-chr12:123875045..123877875,5	MCF-7	breast:
13	chr12:123846590..123852305-chr12:123861449..123873718,39	K562	blood:
14	chr12:92539276..92540080-chr12:123849682..123850440,2	NB4	blood:
15	chr12:123846880..123851536-chr12:123865445..123870876,12	MCF-7	breast:
16	chr12:123849548..123850497-chr15:67813305..67814144,2	Hela-S3	cervix:
17	chr12:123850101..123850661-chr20:30192047..30192923,2	Hela-S3	cervix:
18	chr12:123848299..123850965-chr15:65596079..65598370,2	MCF-7	breast:
19	chr12:123846861..123850261-chr12:124066655..124071408,9	MCF-7	breast:
20	chr12:123832815..123836496-chr12:123847723..123851604,4	MCF-7	breast:
21	chr12:123849449..123850453-chr17:73774927..73776094,3	Hela-S3	cervix:
22	chr12:123845329..123854937-chr12:123865496..123876607,58	K562	blood:
23	chr12:123845591..123852236-chr12:123866929..123875043,19	MCF-7	breast:
24	chr11:65266221..65266767-chr12:123849629..123850352,2	HCT-116	colon:
25	chr12:123753451..123758032-chr12:123846651..123850459,6	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SETD8-1	chr12:123850072-123850660	ENSG00000256092
2	lnc-SETD8-1	chr12:123850072-123850334	NONHSAT031583
3	lnc-SETD8-1	chr12:123848415-123850334	ENSG00000256092.2
4	lnc-SETD8-1	chr12:123849537-123850305	NONHSAT031585
5	lnc-SETD8-1	chr12:123850072-123850216	NONHSAT031586

Variant related genes	Relation type
SBNO1	TF binding region
SBNO1	CpG island
ENSG00000184209	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000264229	Chromatin interaction
ENSG00000162714	Chromatin interaction
ENSG00000207189	Chromatin interaction
ENSG00000259673	Chromatin interaction
ENSG00000185344	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000245904	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000189227	Chromatin interaction
ENSG00000133639	Chromatin interaction
ENSG00000074054	Chromatin interaction
ENSG00000111328	Chromatin interaction

Extended variants
information (count: 151 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:146)

rs_ID	r²[population]
rs10082867	0.83[ASN][1000 genomes]
rs10734902	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10744152	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10744153	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10744154	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10773003	0.80[ASN][1000 genomes]
rs10773004	0.81[ASN][1000 genomes]
rs10773005	0.81[ASN][1000 genomes]
rs10773006	0.81[ASN][1000 genomes]
rs10773012	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10773013	0.90[ASN][1000 genomes]
rs10773018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10846506	0.81[ASN][1000 genomes]
rs10846517	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10846519	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10846520	0.89[ASN][1000 genomes]
rs10846523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057248	0.84[ASN][1000 genomes]
rs11057251	0.81[ASN][1000 genomes]
rs11057254	0.83[ASN][1000 genomes]
rs11057261	0.83[ASN][1000 genomes]
rs11057273	0.83[ASN][1000 genomes]
rs11057276	0.83[ASN][1000 genomes]
rs11057283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057284	0.83[ASN][1000 genomes]
rs11057287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608305	0.81[ASN][1000 genomes]
rs11611141	0.83[ASN][1000 genomes]
rs11611677	0.81[ASN][1000 genomes]
rs11611694	0.83[ASN][1000 genomes]
rs11612234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613711	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12315739	0.81[ASN][1000 genomes]
rs12317103	0.83[ASN][1000 genomes]
rs12317452	0.81[ASN][1000 genomes]
rs12366872	0.83[ASN][1000 genomes]
rs12367421	0.81[ASN][1000 genomes]
rs12582153	0.81[ASN][1000 genomes]
rs1660	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2048617	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28410096	0.81[ASN][1000 genomes]
rs28414347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28417583	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28418709	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28419092	0.83[ASN][1000 genomes]
rs28435460	0.82[ASN][1000 genomes]
rs28446728	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28450974	0.81[ASN][1000 genomes]
rs28461471	0.81[ASN][1000 genomes]
rs28498205	0.81[ASN][1000 genomes]
rs28501453	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28503862	0.81[ASN][1000 genomes]
rs28509440	0.83[ASN][1000 genomes]
rs28532037	0.81[ASN][1000 genomes]
rs28533432	0.81[ASN][1000 genomes]
rs28537583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28546238	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28581850	0.81[ASN][1000 genomes]
rs28587386	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28592032	0.81[ASN][1000 genomes]
rs28594416	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28595660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28602967	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28604484	0.85[ASN][1000 genomes]
rs28605269	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28611282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28613486	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28627651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28631903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28681105	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28703745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28706693	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28718696	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28733606	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28759130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28786830	0.81[ASN][1000 genomes]
rs28820735	0.81[ASN][1000 genomes]
rs28825193	0.81[ASN][1000 genomes]
rs28862317	0.93[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs28865692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28885203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3088303	0.81[ASN][1000 genomes]
rs35818434	0.81[ASN][1000 genomes]
rs3803001	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3825141	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4759374	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4759375	0.81[ASN][1000 genomes]
rs4759376	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4759377	0.83[ASN][1000 genomes]
rs4759421	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56116847	0.82[ASN][1000 genomes]
rs57356592	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57416942	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58491161	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58537268	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58948739	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59295450	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60754073	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60755632	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61058270	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61388686	0.83[ASN][1000 genomes]
rs61751327	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6416289	0.88[ASN][1000 genomes]
rs6488869	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488870	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488871	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488872	1.00[ASN][1000 genomes]
rs6488874	0.89[ASN][1000 genomes]
rs7137243	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297649	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297888	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7298909	0.83[ASN][1000 genomes]
rs7301163	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311304	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312145	0.83[ASN][1000 genomes]
rs7315453	0.83[ASN][1000 genomes]
rs73216937	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73231950	0.81[ASN][1000 genomes]
rs7484644	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7485967	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7486223	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7486723	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7488340	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952835	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954704	0.83[ASN][1000 genomes]
rs7955367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7959415	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962723	0.85[ASN][1000 genomes]
rs7970080	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971557	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7972811	0.83[ASN][1000 genomes]
rs7973131	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973878	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977563	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9284166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9300256	0.96[ASN][1000 genomes]
rs9300257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9300259	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9669169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9669273	0.83[ASN][1000 genomes]
rs9669295	0.82[ASN][1000 genomes]
rs9739008	0.95[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9739171	0.83[ASN][1000 genomes]
rs9739565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9795593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv899579	chr12:123843017-123901480	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	esv3371959	chr12:123848399-123850847	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123847200-123850600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:123847400-123850400	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr12:123847400-123850600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:123847400-123850600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:123847400-123850600	Active TSS	Right Ventricle	heart
6	chr12:123847400-123850800	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr12:123847600-123850400	Active TSS	Aorta	Aorta
8	chr12:123847600-123850600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr12:123847600-123850600	Active TSS	Psoas Muscle	Psoas
10	chr12:123847600-123850600	Active TSS	NHLF	lung
11	chr12:123847800-123850400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:123847800-123850600	Active TSS	H1 Cell Line	embryonic stem cell
13	chr12:123847800-123850600	Active TSS	H9 Cell Line	embryonic stem cell
14	chr12:123847800-123850600	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr12:123847800-123850600	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr12:123847800-123850600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:123847800-123850600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:123847800-123850600	Active TSS	Fetal Muscle Trunk	muscle
19	chr12:123847800-123850600	Active TSS	Right Atrium	heart
20	chr12:123847800-123850800	Active TSS	GM12878-XiMat	blood
21	chr12:123848000-123850400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:123848000-123850400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:123848000-123850400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:123848000-123850400	Active TSS	Ovary	ovary
25	chr12:123848000-123850400	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr12:123848000-123850600	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr12:123848000-123850600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr12:123848000-123850600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:123848000-123850600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:123848000-123850600	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr12:123848000-123850600	Active TSS	Colon Smooth Muscle	Colon
32	chr12:123848000-123850600	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr12:123848000-123850600	Active TSS	Fetal Intestine Large	intestine
34	chr12:123848000-123850600	Active TSS	Fetal Intestine Small	intestine
35	chr12:123848000-123850600	Active TSS	A549	lung
36	chr12:123848000-123850800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:123848000-123850800	Active TSS	Fetal Kidney	kidney
38	chr12:123848000-123850800	Active TSS	Thymus	Thymus
39	chr12:123848200-123850200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:123848200-123850200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:123848200-123850200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr12:123848200-123850200	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr12:123848200-123850200	Active TSS	Duodenum Mucosa	Duodenum
44	chr12:123848200-123850200	Active TSS	Small Intestine	intestine
45	chr12:123848200-123850400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:123848200-123850400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:123848200-123850400	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr12:123848200-123850400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:123848200-123850400	Active TSS	Esophagus	oesophagus
50	chr12:123848200-123850400	Active TSS	Fetal Brain Female	brain

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Variant report

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