Variant report

Variant	rs1992094
Chromosome Location	chr3:143689587-143689588
allele	A/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	POLR2A	chr3:143689448-143692708	HUVEC	blood vessel:	n/a	n/a
2	REST	chr3:143689428-143691555	H1-neurons	neurons:	n/a	chr3:143689885-143689905 chr3:143689912-143689925
3	MAX	chr3:143689475-143692453	A549	lung:	n/a	chr3:143689817-143689826 chr3:143689829-143689838 chr3:143689513-143689522
4	POLR2A	chr3:143689516-143692415	HL-60	blood:	n/a	n/a
5	ATF2	chr3:143689546-143689945	GM12878	blood:	n/a	n/a
6	MYC	chr3:143689557-143692334	K562	blood:	n/a	chr3:143689817-143689826 chr3:143689829-143689838
7	FOXM1	chr3:143689578-143692479	GM12878	blood:	n/a	n/a
8	MAX	chr3:143689459-143692886	Hela-S3	cervix:	n/a	chr3:143689817-143689826 chr3:143689829-143689838 chr3:143689513-143689522
9	MAX	chr3:143689528-143692416	HCT-116	colon:	n/a	chr3:143689817-143689826 chr3:143689829-143689838
10	MYC	chr3:143689554-143692333	NB4	blood:	n/a	chr3:143689817-143689826 chr3:143689829-143689838
11	EBF1	chr3:143689546-143691654	GM12878	blood:	n/a	n/a
12	HA-E2F1	chr3:143689572-143692533	MCF-7	breast:	n/a	chr3:143690620-143690629 chr3:143690586-143690595 chr3:143690818-143690827 chr3:143690784-143690794 chr3:143691005-143691017
13	MYC	chr3:143689581-143692797	K562	blood:	n/a	chr3:143689817-143689826 chr3:143689829-143689838
14	POLR2A	chr3:143689567-143692266	NB4	blood:	n/a	n/a
15	ZNF263	chr3:143689537-143692886	HEK293-T-REx	kidney:	n/a	chr3:143690863-143690884 chr3:143690386-143690395
16	PML	chr3:143689523-143692462	GM12878	blood:	n/a	chr3:143689898-143689906
17	ELK1	chr3:143689556-143690953	GM12878	blood:	n/a	n/a
18	POLR2A	chr3:143689532-143692596	Raji	blood:	n/a	n/a
19	POLR2A	chr3:143689444-143691646	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr3:143689585-143691926	H1-hESC	embryonic stem cell:	n/a	n/a
21	RELA	chr3:143689556-143692832	GM12891	blood:	n/a	n/a
22	MAX	chr3:143689549-143692435	MCF-7	breast:	n/a	chr3:143689817-143689826 chr3:143689829-143689838
23	MAX	chr3:143689546-143692396	GM12878	blood:	n/a	chr3:143689817-143689826 chr3:143689829-143689838
24	MAZ	chr3:143689480-143692499	IMR90	lung:	n/a	chr3:143689817-143689826 chr3:143689829-143689838 chr3:143689513-143689522
25	ELF1	chr3:143689554-143691148	GM12878	blood:	n/a	chr3:143691041-143691053 chr3:143690785-143690797
26	MAX	chr3:143689513-143692378	HCT-116	colon:	n/a	chr3:143689817-143689826 chr3:143689829-143689838 chr3:143689513-143689522
27	CHD1	chr3:143689474-143692419	H1-hESC	embryonic stem cell:	n/a	chr3:143690321-143690331 chr3:143690247-143690257
28	UBTF	chr3:143689569-143693039	K562	blood:	n/a	n/a
29	MAX	chr3:143689538-143692338	A549	lung:	n/a	chr3:143689817-143689826 chr3:143689829-143689838
30	MAX	chr3:143689477-143692649	NB4	blood:	n/a	chr3:143689817-143689826 chr3:143689829-143689838 chr3:143689513-143689522
31	POLR2A	chr3:143689437-143692365	SK-N-MC	brain:	n/a	n/a
32	MXI1	chr3:143689449-143692990	IMR90	lung:	n/a	chr3:143689823-143689838 chr3:143689811-143689826 chr3:143689595-143689604
33	TAF1	chr3:143689575-143691821	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr3:143689578-143692557	GM12878	blood:	n/a	n/a
35	POLR2A	chr3:143689426-143693163	GM12891	blood:	n/a	n/a
36	MYC	chr3:143689587-143689774	MCF10A-Er-Src	breast:	n/a	n/a
37	RUNX3	chr3:143689561-143691864	GM12878	blood:	n/a	chr3:143690436-143690445 chr3:143690436-143690445 chr3:143690482-143690497
38	POLR2A	chr3:143689551-143692793	GM18505	blood:	n/a	n/a
39	POLR2A	chr3:143689391-143692617	H1-hESC	embryonic stem cell:	n/a	n/a
40	TBP	chr3:143689535-143691636	Hela-S3	cervix:	n/a	n/a
41	TBL1XR1	chr3:143689562-143689762	K562	blood:	n/a	n/a
42	MAZ	chr3:143689584-143692884	K562	blood:	n/a	chr3:143689817-143689826 chr3:143689829-143689838
43	POLR2A	chr3:143689436-143692351	U87	brain:	n/a	n/a
44	CREB1	chr3:143689544-143692239	GM12878	blood:	n/a	n/a
45	POLR2A	chr3:143689442-143694803	PBDE	blood:	n/a	n/a
46	POLR2A	chr3:143689569-143692619	GM12892	blood:	n/a	n/a
47	SIN3AK20	chr3:143689423-143692727	MCF-7	breast:	n/a	n/a
48	POLR2A	chr3:143689442-143692257	U87	brain:	n/a	n/a
49	POLR2A	chr3:143689389-143692395	K562	blood:	n/a	n/a
50	POLR2A	chr3:143689522-143692502	GM12892	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:143689584-143689634	MCF10A-Er-Src	breast:	n/a
2	chr3:143689584-143689634	Hela-S3	cervix:	n/a
3	chr3:143689584-143689634	HRPEpiC	eye:	n/a
4	chr3:143689584-143689634	HCT-116	colon:	n/a
5	chr3:143689584-143689634	H1-hESC	embryonic stem cell:	embryo
6	chr3:143689584-143689634	HIPEpiC	eye:	n/a
7	chr3:143689584-143689634	BJ	skin:	n/a
8	chr3:143689584-143689634	HCF	heart:	n/a
9	chr3:143689584-143689634	NHBE	bronchial:	n/a
10	chr3:143689584-143689634	HCPEpiC	choroid plexus:	n/a
11	chr3:143689584-143689634	SKMC	muscle:	n/a
12	chr3:143689584-143689634	HepG2	liver:	n/a
13	chr3:143689584-143689634	GM12878	blood:	n/a
14	chr3:143689584-143689634	NHDF-neo	bronchial:	n/a
15	chr3:143689584-143689634	HEEpiC	esophagus:	n/a
16	chr3:143689584-143689634	SK-N-SH	brain:	n/a
17	chr3:143689584-143689634	PANC-1	pancreas:	n/a
18	chr3:143689584-143689634	AG10803	skin:	n/a
19	chr3:143689584-143689634	SK-N-MC	brain:	n/a
20	chr3:143689584-143689634	GM12892	blood:	n/a
21	chr3:143689584-143689634	ECC-1	luminal epithelium:	n/a
22	chr3:143689584-143689634	CMK	blood:	n/a
23	chr3:143689584-143689634	HCM	heart:	n/a
24	chr3:143689584-143689634	IMR90	lung:	fetal
25	chr3:143689584-143689634	Hepatocyte	liver:	n/a
26	chr3:143689584-143689634	HAEpiC	amniotic membrane:	n/a
27	chr3:143689584-143689634	HRCEpiC	kidney:	n/a
28	chr3:143689584-143689634	MCF-7	breast:	n/a
29	chr3:143689584-143689634	AG09319	gingival:	n/a
30	chr3:143689584-143689634	Caco-2	colon:	n/a
31	chr3:143689584-143689634	GM06990	blood:	n/a
32	chr3:143689584-143689634	HPAEpiC	pulmonary alveolar:	n/a
33	chr3:143689584-143689634	A549	lung:	n/a
34	chr3:143689584-143689634	HNPCEpiC	eye:	n/a
35	chr3:143689584-143689634	NT2-D1	testis:	n/a
36	chr3:143689584-143689634	HMEC	breast:	n/a
37	chr3:143689584-143689634	ProgFib	skin:	n/a
38	chr3:143689584-143689634	Jurkat	blood:	n/a
39	chr3:143689584-143689634	GM19239	blood:	n/a
40	chr3:143689584-143689634	PrEC	prostate:	n/a
41	chr3:143689584-143689634	BE2_C	brain:	n/a
42	chr3:143689584-143689634	U87	brain:	n/a
43	chr3:143689584-143689634	HEK293	kidney:	embryo
44	chr3:143689584-143689634	T-47D	breast:	n/a
45	chr3:143689584-143689634	HRE	kidney:	n/a
46	chr3:143689584-143689634	HUVEC	blood vessel:	n/a
47	chr3:143689584-143689634	HL-60	blood:	n/a
48	chr3:143689584-143689634	LNCaP	prostate:	n/a
49	chr3:143689584-143689634	SAEC	small airway:	n/a
50	chr3:143689584-143689634	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:12956339..12957122-chr3:143689535..143690489,2	Hela-S3	cervix:
2	chr3:143688929..143690453-chr9:116724811..116727064,2	MCF-7	breast:
3	chr17:57914617..57916585-chr3:143689584..143691332,2	MCF-7	breast:

Variant related genes	Relation type
C3orf58	TF binding region
C3orf58	CpG island
ENSG00000062716	Chromatin interaction

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs1027726	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1027727	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1125704	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1125705	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11710441	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11720540	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11914522	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13062780	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13083596	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13092757	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13323371	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1354495	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1370027	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1370028	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1370029	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1370030	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1394399	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1394400	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1394401	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1436629	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1469871	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1504596	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1504601	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1550141	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1550142	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1583550	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1595208	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1595209	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1595210	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1595211	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17603166	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1898263	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2118071	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2118072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2134914	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2134915	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2134916	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2164551	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2164552	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2164553	0.83[EUR][1000 genomes]
rs2202378	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2217926	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2221411	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2361211	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2370174	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2370175	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2885198	0.81[AMR][1000 genomes]
rs34200306	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34743418	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35291263	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4258964	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4258965	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4276180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4334641	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4350918	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4431106	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4437138	0.88[AMR][1000 genomes]
rs4462961	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4476500	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4549268	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4563410	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4575896	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4582058	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59870355	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6440206	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6440207	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6440208	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6440209	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67417607	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6766439	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6767811	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6770317	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6798775	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6803148	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs723490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs723492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7432451	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7611555	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7611648	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7611814	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7619036	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7619220	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7622357	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7626898	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7628282	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7630146	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7631704	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7638577	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7643341	0.82[ASN][1000 genomes]
rs7643800	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7650233	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7650239	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7650332	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7650459	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7651567	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7652490	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7653287	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7653431	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9289671	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9683376	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9811736	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9811888	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9812340	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9812374	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9829883	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9835170	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9840157	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9840519	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9840971	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9841182	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9854844	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9860872	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9865128	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9867025	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9867615	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9867976	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9869178	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9870551	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9872448	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9872595	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9876654	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9878070	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[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	nsv877568	chr3:143621140-143992630	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3365190	chr3:143642195-143925886	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv591922	chr3:143645242-143825439	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv518814	chr3:143666825-143703750	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
5	esv3349108	chr3:143676303-143692796	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143680400-143689600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:143684000-143689600	Weak transcription	Pancreas	Pancrea
3	chr3:143685200-143689600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:143688000-143689600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:143688800-143696400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:143689000-143689600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr3:143689000-143693200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:143689000-143694400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr3:143689000-143695400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:143689000-143696800	Active TSS	Stomach Smooth Muscle	stomach
11	chr3:143689200-143689600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:143689200-143689600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr3:143689200-143689600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr3:143689200-143689600	Enhancers	Liver	Liver
15	chr3:143689200-143689600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr3:143689200-143689800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:143689200-143690000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:143689200-143693200	Active TSS	A549	lung
19	chr3:143689200-143693400	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr3:143689200-143693800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:143689200-143694400	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr3:143689200-143695400	Active TSS	K562	blood
23	chr3:143689200-143695800	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr3:143689200-143696200	Active TSS	GM12878-XiMat	blood
25	chr3:143689400-143689600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr3:143689400-143689600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:143689400-143689600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr3:143689400-143689600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:143689400-143689600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr3:143689400-143689600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr3:143689400-143689600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr3:143689400-143689600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr3:143689400-143689600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr3:143689400-143689600	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr3:143689400-143689600	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr3:143689400-143689600	Flanking Active TSS	Fetal Heart	heart
37	chr3:143689400-143689600	Flanking Active TSS	Fetal Intestine Small	intestine
38	chr3:143689400-143689600	Flanking Active TSS	Fetal Stomach	stomach
39	chr3:143689400-143689600	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr3:143689400-143689600	Flanking Bivalent TSS/Enh	HepG2	liver
41	chr3:143689400-143689600	Flanking Active TSS	Osteobl	bone
42	chr3:143689400-143689800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr3:143689400-143689800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr3:143689400-143689800	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr3:143689400-143689800	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr3:143689400-143689800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr3:143689400-143689800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:143689400-143689800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr3:143689400-143689800	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr3:143689400-143689800	Flanking Active TSS	Fetal Lung	lung

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