Variant report

Variant	rs11640463
Chromosome Location	chr16:48644434-48644435
allele	A/T
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	ARID3A	chr16:48644037-48644641	HepG2	liver:	n/a	n/a
2	ELK1	chr16:48644052-48644437	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr16:48643176-48644631	H1-neurons	neurons:	n/a	n/a
4	TRIM28	chr16:48644084-48644562	K562	blood:	n/a	n/a
5	REST	chr16:48644114-48644706	A549	lung:	n/a	n/a
6	MAX	chr16:48643354-48644446	K562	blood:	n/a	n/a
7	TBP	chr16:48644032-48644597	GM12878	blood:	n/a	n/a
8	YY1	chr16:48643491-48644547	H1-hESC	embryonic stem cell:	n/a	chr16:48644222-48644232 chr16:48644222-48644244 chr16:48644164-48644173 chr16:48644085-48644094 chr16:48644225-48644233 chr16:48643599-48643613 chr16:48643608-48643617 chr16:48643605-48643614
9	CREB1	chr16:48643922-48644708	ECC-1	luminal epithelium:	n/a	chr16:48644205-48644218
10	POLR2A	chr16:48643623-48644598	PFSK-1	brain:	n/a	n/a
11	NFATC1	chr16:48644078-48644596	GM12878	blood:	n/a	n/a
12	STAT5A	chr16:48644101-48644490	GM12878	blood:	n/a	n/a
13	RELA	chr16:48643238-48644500	GM18951	blood:	n/a	n/a
14	POLR2A	chr16:48643353-48644473	Hela-S3	cervix:	n/a	n/a
15	CREB1	chr16:48643977-48644468	A549	lung:	n/a	chr16:48644205-48644218
16	YY1	chr16:48643673-48644504	HCT-116	colon:	n/a	chr16:48644222-48644232 chr16:48644222-48644244 chr16:48644164-48644173 chr16:48644085-48644094 chr16:48644225-48644233
17	ATF2	chr16:48644005-48644463	H1-hESC	embryonic stem cell:	n/a	chr16:48644206-48644217
18	YY1	chr16:48643574-48644809	GM12878	blood:	n/a	chr16:48644222-48644232 chr16:48644222-48644244 chr16:48644164-48644173 chr16:48644085-48644094 chr16:48644225-48644233 chr16:48643599-48643613 chr16:48643608-48643617 chr16:48643605-48643614
19	JUN	chr16:48644012-48644604	K562	blood:	n/a	chr16:48644206-48644219
20	HEY1	chr16:48643605-48644572	HepG2	liver:	n/a	chr16:48644208-48644217
21	CREB1	chr16:48643618-48644519	A549	lung:	n/a	chr16:48644205-48644218
22	MAZ	chr16:48643201-48644606	GM12878	blood:	n/a	n/a
23	TCF7L2	chr16:48644034-48644577	Hela-S3	cervix:	n/a	chr16:48644271-48644285
24	POLR2A	chr16:48643411-48644746	Raji	blood:	n/a	n/a
25	MAZ	chr16:48643977-48644527	HepG2	liver:	n/a	n/a
26	POLR2A	chr16:48643674-48644519	GM12878	blood:	n/a	n/a
27	CUX1	chr16:48644110-48644547	GM12878	blood:	n/a	n/a
28	CHD2	chr16:48643784-48644536	HepG2	liver:	n/a	n/a
29	YY1	chr16:48643583-48644612	SK-N-SH_RA	brain:	n/a	chr16:48644222-48644232 chr16:48644222-48644244 chr16:48644164-48644173 chr16:48644085-48644094 chr16:48644225-48644233 chr16:48643599-48643613 chr16:48643608-48643617 chr16:48643605-48643614
30	POLR2A	chr16:48643960-48644563	HL-60	blood:	n/a	n/a
31	POLR2A	chr16:48643679-48644520	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr16:48643890-48644498	HUVEC	blood vessel:	n/a	n/a
33	YY1	chr16:48643552-48644486	GM12891	blood:	n/a	chr16:48644222-48644232 chr16:48644222-48644244 chr16:48644164-48644173 chr16:48644085-48644094 chr16:48644225-48644233 chr16:48643599-48643613 chr16:48643608-48643617 chr16:48643605-48643614
34	MYC	chr16:48643286-48644724	K562	blood:	n/a	n/a
35	TAF1	chr16:48643160-48644566	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr16:48643966-48644477	SK-N-SH	brain:	n/a	n/a
37	MAX	chr16:48643227-48644521	GM12878	blood:	n/a	n/a
38	TEAD4	chr16:48644022-48644694	HepG2	liver:	n/a	n/a
39	E2F4	chr16:48643346-48644448	K562	blood:	n/a	chr16:48644294-48644305 chr16:48643608-48643620 chr16:48644206-48644215 chr16:48644095-48644106 chr16:48644295-48644306 chr16:48644208-48644217 chr16:48643608-48643617 chr16:48644295-48644303 chr16:48644291-48644305 chr16:48644294-48644304 chr16:48644295-48644303
40	POLR2A	chr16:48643628-48644540	H1-hESC	embryonic stem cell:	n/a	n/a
41	TCF7L2	chr16:48644053-48644570	PANC-1	pancreas:	n/a	chr16:48644271-48644285
42	POLR2A	chr16:48643198-48644447	GM12878	blood:	n/a	n/a
43	RFX5	chr16:48644020-48644625	Hela-S3	cervix:	n/a	n/a
44	CREB1	chr16:48643923-48644641	GM12878	blood:	n/a	chr16:48644205-48644218
45	TAF1	chr16:48643657-48644544	SK-N-SH	brain:	n/a	n/a
46	STAT5A	chr16:48644067-48644485	K562	blood:	n/a	n/a
47	HEY1	chr16:48643632-48644484	K562	blood:	n/a	chr16:48644208-48644217
48	ETS1	chr16:48643962-48644435	A549	lung:	n/a	n/a
49	BRCA1	chr16:48644017-48644592	Hela-S3	cervix:	n/a	n/a
50	TCF12	chr16:48643924-48644670	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:48644408-48644458	IMR90	lung:	fetal
2	chr16:48644408-48644458	NH-A	brain:	n/a
3	chr16:48644408-48644458	HAEpiC	amniotic membrane:	n/a
4	chr16:48644408-48644458	A549	lung:	n/a
5	chr16:48644408-48644458	HPAEpiC	pulmonary alveolar:	n/a
6	chr16:48644408-48644458	HCT-116	colon:	n/a
7	chr16:48644408-48644458	AG09309	skin:	n/a
8	chr16:48644408-48644458	GM06990	blood:	n/a
9	chr16:48644408-48644458	HL-60	blood:	n/a
10	chr16:48644408-48644458	HCF	heart:	n/a
11	chr16:48644408-48644458	MCF10A-Er-Src	breast:	n/a
12	chr16:48644408-48644458	HMEC	breast:	n/a
13	chr16:48644408-48644458	NHBE	bronchial:	n/a
14	chr16:48644408-48644458	HepG2	liver:	n/a
15	chr16:48644408-48644458	ovcar-3	ovarian:	n/a
16	chr16:48644408-48644458	HCPEpiC	choroid plexus:	n/a
17	chr16:48644408-48644458	PrEC	prostate:	n/a
18	chr16:48644408-48644458	SKMC	muscle:	n/a
19	chr16:48644408-48644458	HRPEpiC	eye:	n/a
20	chr16:48644408-48644458	AG09319	gingival:	n/a
21	chr16:48644408-48644458	Hela-S3	cervix:	n/a
22	chr16:48644408-48644458	ProgFib	skin:	n/a
23	chr16:48644408-48644458	AG10803	skin:	n/a
24	chr16:48644408-48644458	SK-N-SH_RA	brain:	n/a
25	chr16:48644408-48644458	AG04450	lung:	fetal
26	chr16:48644408-48644458	ECC-1	luminal epithelium:	n/a
27	chr16:48644408-48644458	GM12891	blood:	n/a
28	chr16:48644408-48644458	HCM	heart:	n/a
29	chr16:48644408-48644458	Caco-2	colon:	n/a
30	chr16:48644408-48644458	SK-N-SH	brain:	n/a
31	chr16:48644408-48644458	GM19239	blood:	n/a
32	chr16:48644408-48644458	LNCaP	prostate:	n/a
33	chr16:48644408-48644458	PFSK-1	brain:	n/a
34	chr16:48644408-48644458	HIPEpiC	eye:	n/a
35	chr16:48644408-48644458	GM12878	blood:	n/a
36	chr16:48644408-48644458	GM12892	blood:	n/a
37	chr16:48644408-48644458	HEK293	kidney:	embryo
38	chr16:48644408-48644458	RPTEC	kidney:	n/a
39	chr16:48644408-48644458	NT2-D1	testis:	n/a
40	chr16:48644408-48644458	NHDF-neo	bronchial:	n/a
41	chr16:48644408-48644458	Hepatocyte	liver:	n/a
42	chr16:48644408-48644458	AG04449	skin:	fetal
43	chr16:48644408-48644458	SAEC	small airway:	n/a
44	chr16:48644408-48644458	BE2_C	brain:	n/a
45	chr16:48644408-48644458	K562	blood:	n/a
46	chr16:48644408-48644458	HRE	kidney:	n/a
47	chr16:48644408-48644458	BJ	skin:	n/a
48	chr16:48644408-48644458	SK-N-MC	brain:	n/a
49	chr16:48644408-48644458	HEEpiC	esophagus:	n/a
50	chr16:48644408-48644458	PANC-1	pancreas:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:48642624..48645570-chr16:48653678..48655637,3	MCF-7	breast:
2	chr16:48417371..48420713-chr16:48642499..48645364,3	K562	blood:
3	chr16:48636374..48639117-chr16:48642848..48644889,3	MCF-7	breast:
4	chr16:48278224..48281613-chr16:48642327..48645557,3	MCF-7	breast:
5	chr16:48418015..48420544-chr16:48643775..48645908,3	MCF-7	breast:
6	chr16:48398982..48401730-chr16:48643542..48645764,2	K562	blood:
7	chr16:48611677..48614965-chr16:48642822..48645500,3	MCF-7	breast:
8	chr1:45186967..45187640-chr16:48643672..48644651,2	HCT-116	colon:
9	chr16:48591602..48593821-chr16:48642725..48645233,2	MCF-7	breast:

Variant related genes	Relation type
N4BP1	TF binding region
N4BP1	CpG island
ENSG00000196470	Chromatin interaction
ENSG00000102910	Chromatin interaction
ENSG00000243609	Chromatin interaction
ENSG00000259912	Chromatin interaction
ENSG00000102921	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000261267	Chromatin interaction
ENSG00000121270	Chromatin interaction

Extended variants
information (count: 167 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:165)

rs_ID	r²[population]
rs1039340	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1039341	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1039342	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1039343	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1039344	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1106386	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11076570	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11076571	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11076572	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11076573	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11076578	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1115758	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1115759	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1120275	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1120276	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11495819	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11640119	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11641458	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11641510	0.87[ASN][1000 genomes]
rs11643264	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11643272	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11644518	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11645193	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11647046	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11647048	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11648101	0.85[EUR][1000 genomes]
rs11649236	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11859909	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1224	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12444902	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12446280	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12597928	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12598514	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12933948	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12935540	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13330784	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13331298	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13331902	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13332125	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13335847	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1386040	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1386042	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1477134	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1486411	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1486412	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1558815	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1564979	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1564980	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16946340	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs16946342	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17826468	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1825683	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1872652	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1872654	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1872655	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1909765	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1968903	0.85[ASN][1000 genomes]
rs1987061	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2041921	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2080507	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2080508	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2101372	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2129243	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2354578	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2354579	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28432694	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28481630	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28577888	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28692806	0.84[EUR][1000 genomes]
rs2883475	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2883641	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34813315	0.84[EUR][1000 genomes]
rs36077931	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3743779	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3743780	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3817029	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3826174	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3843724	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3848319	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3848320	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3848321	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3848322	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4277341	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4471681	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4493038	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4785247	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4785248	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4785528	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55671623	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55782524	0.87[EUR][1000 genomes]
rs57903644	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61098261	0.93[ASN][1000 genomes]
rs6500395	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6500396	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6500397	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6500398	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6500405	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7184070	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7184144	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7185541	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7185899	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7187513	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7188741	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7191028	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7191225	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7192297	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7194570	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7195684	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7196823	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7197732	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7198145	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7198773	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7199206	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7199625	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7201196	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7204345	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74017013	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8044519	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8050844	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8052073	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8052640	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8053598	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8057165	0.80[EUR][1000 genomes]
rs8057777	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8058362	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8059819	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8059905	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs868792	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs871902	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs924476	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs989070	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9921737	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9921741	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9922356	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9922734	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9923371	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9923753	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9924078	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9924483	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9925406	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9927888	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9928051	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9930199	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9931123	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9931737	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9933187	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9933329	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9933976	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9934626	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9934844	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9936004	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9936271	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9936445	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9936446	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9936454	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9937134	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9937568	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9937610	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9937623	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9938126	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9938308	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9938890	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9939103	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9941275	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9941336	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405809	chr16:48642876-48645424	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3422336	chr16:48643001-48645099	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11640463	N4BP1	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48641200-48644600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:48641800-48644800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr16:48641800-48644800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr16:48641800-48644800	Active TSS	HSMM	muscle
5	chr16:48641800-48645200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr16:48642000-48644600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr16:48642000-48644600	Active TSS	Esophagus	oesophagus
8	chr16:48642000-48644800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr16:48642200-48644800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr16:48642200-48644800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:48642200-48644800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr16:48642400-48644600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr16:48642400-48644600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr16:48642400-48644600	Active TSS	Ovary	ovary
15	chr16:48642400-48644600	Active TSS	GM12878-XiMat	blood
16	chr16:48642400-48644800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:48642600-48644600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr16:48642600-48644600	Active TSS	Right Ventricle	heart
19	chr16:48642600-48644600	Active TSS	NHLF	lung
20	chr16:48642600-48644800	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr16:48642600-48644800	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr16:48642600-48644800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:48642600-48644800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:48642600-48644800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr16:48642600-48644800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr16:48642600-48644800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr16:48642600-48645000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr16:48642800-48644600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr16:48642800-48644600	Active TSS	Brain Angular Gyrus	brain
30	chr16:48642800-48644600	Active TSS	Brain Substantia Nigra	brain
31	chr16:48642800-48644800	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr16:48642800-48644800	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr16:48642800-48644800	Active TSS	Colon Smooth Muscle	Colon
34	chr16:48642800-48644800	Active TSS	Fetal Kidney	kidney
35	chr16:48642800-48644800	Active TSS	Rectal Smooth Muscle	rectum
36	chr16:48642800-48644800	Active TSS	Osteobl	bone
37	chr16:48642800-48645000	Active TSS	A549	lung
38	chr16:48642800-48645200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:48642800-48645200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr16:48642800-48645200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:48643000-48644600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:48643000-48644600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr16:48643000-48644600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr16:48643000-48644600	Active TSS	Aorta	Aorta
45	chr16:48643000-48644600	Active TSS	Colonic Mucosa	Colon
46	chr16:48643000-48644600	Active TSS	Left Ventricle	heart
47	chr16:48643000-48644600	Bivalent/Poised TSS	HepG2	liver
48	chr16:48643000-48644800	Active TSS	H1 Cell Line	embryonic stem cell
49	chr16:48643000-48644800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr16:48643000-48644800	Active TSS	Brain Germinal Matrix	brain

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Variant report

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