Variant report

Variant	rs3758230
Chromosome Location	chr9:95056446-95056447
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	chr9:95054862-95057471	MCF10A-Er-Src	breast:	n/a	n/a
2	TAL1	chr9:95055513-95057180	K562	blood:	n/a	n/a
3	USF2	chr9:95055869-95056530	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr9:95055524-95057064	Hela-S3	cervix:	n/a	n/a
5	UBTF	chr9:95055729-95057092	K562	blood:	n/a	n/a
6	TAF7	chr9:95055652-95056500	H1-hESC	embryonic stem cell:	n/a	n/a
7	JUND	chr9:95055730-95056455	H1-hESC	embryonic stem cell:	n/a	n/a
8	ELK1	chr9:95055781-95056458	GM12878	blood:	n/a	n/a
9	POLR2A	chr9:95055619-95056478	HCT-116	colon:	n/a	n/a
10	CHD1	chr9:95055777-95056473	GM12878	blood:	n/a	n/a
11	CEBPB	chr9:95055577-95056491	HCT-116	colon:	n/a	n/a
12	POLR2A	chr9:95048736-95059563	K562	blood:	n/a	n/a
13	POLR2A	chr9:95055618-95057079	GM12892	blood:	n/a	n/a
14	EP300	chr9:95055921-95056449	K562	blood:	n/a	chr9:95056319-95056329 chr9:95056385-95056392
15	BCL3	chr9:95055680-95056499	A549	lung:	n/a	n/a
16	UBTF	chr9:95055773-95057069	K562	blood:	n/a	n/a
17	POLR2A	chr9:95055587-95056961	Hela-S3	cervix:	n/a	n/a
18	ARID3A	chr9:95055222-95056455	K562	blood:	n/a	n/a
19	CREB1	chr9:95055564-95056538	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr9:95055689-95056530	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr9:95055662-95058756	K562	blood:	n/a	n/a
22	MAFK	chr9:95055837-95056501	K562	blood:	n/a	n/a
23	FOXM1	chr9:95055670-95056578	GM12878	blood:	n/a	n/a
24	REST	chr9:95055431-95056549	H1-neurons	neurons:	n/a	chr9:95056180-95056193 chr9:95056192-95056205 chr9:95056192-95056205 chr9:95056189-95056202
25	IRF1	chr9:95055736-95056448	K562	blood:	n/a	chr9:95055876-95055885 chr9:95056037-95056046
26	POLR2A	chr9:95054946-95056614	U87	brain:	n/a	n/a
27	TAF1	chr9:95055627-95056561	ECC-1	luminal epithelium:	n/a	n/a
28	ZMIZ1	chr9:95055717-95056769	K562	blood:	n/a	n/a
29	HEY1	chr9:95055624-95056524	HepG2	liver:	n/a	n/a
30	POLR2A	chr9:95055619-95056533	PFSK-1	brain:	n/a	n/a
31	MYBL2	chr9:95055652-95056581	HepG2	liver:	n/a	n/a
32	MYC	chr9:95055063-95056589	MCF10A-Er-Src	breast:	n/a	n/a
33	MXI1	chr9:95055555-95056720	K562	blood:	n/a	n/a
34	POLR2A	chr9:95055704-95056957	GM19193	blood:	n/a	n/a
35	NFYA	chr9:95055444-95056513	K562	blood:	n/a	chr9:95056035-95056050 chr9:95056076-95056094 chr9:95056035-95056049 chr9:95056035-95056048 chr9:95056080-95056095 chr9:95056080-95056095 chr9:95056034-95056046 chr9:95056084-95056096 chr9:95056081-95056095 chr9:95056035-95056050
36	E2F6	chr9:95055680-95056464	H1-hESC	embryonic stem cell:	n/a	chr9:95056084-95056093 chr9:95056037-95056046
37	POLR2A	chr9:95055685-95056968	Raji	blood:	n/a	n/a
38	POLR2A	chr9:95055625-95057018	Hela-S3	cervix:	n/a	n/a
39	SIN3A	chr9:95054861-95056869	H1-hESC	embryonic stem cell:	n/a	chr9:95056189-95056202
40	POLR2A	chr9:95055635-95057309	GM12878	blood:	n/a	n/a
41	MAZ	chr9:95055824-95056677	GM12878	blood:	n/a	n/a
42	POLR2A	chr9:95055747-95056460	GM12878	blood:	n/a	n/a
43	POLR2A	chr9:95055732-95056473	NB4	blood:	n/a	n/a
44	POLR2A	chr9:95055724-95058857	K562	blood:	n/a	n/a
45	POLR2A	chr9:95054894-95058821	PBDE	blood:	n/a	n/a
46	JUN	chr9:95055796-95056594	K562	blood:	n/a	chr9:95055980-95055993
47	HEY1	chr9:95055648-95057161	K562	blood:	n/a	n/a
48	MAX	chr9:95055502-95056968	A549	lung:	n/a	n/a
49	TCF12	chr9:95055531-95056957	A549	lung:	n/a	n/a
50	YY1	chr9:95055690-95056455	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:95052267..95059743-chr9:95085805..95090654,23	MCF-7	breast:
2	chr9:94996019..94998973-chr9:95056165..95057730,2	MCF-7	breast:
3	chr9:94876692..94878485-chr9:95054878..95056695,2	MCF-7	breast:
4	chr9:94899081..94901349-chr9:95056061..95058658,2	K562	blood:
5	chr9:95054612..95057091-chr9:95526187..95528018,2	K562	blood:
6	chr9:95000607..95005891-chr9:95055882..95059515,6	K562	blood:
7	chr9:95056040..95058266-chr9:95225229..95227656,2	K562	blood:
8	chr20:55926188..55927994-chr9:95055648..95058175,2	MCF-7	breast:
9	chr9:94897363..94901349-chr9:95056061..95059787,4	K562	blood:
10	chr9:95051112..95065542-chr9:95079443..95091389,38	K562	blood:
11	chr9:95052930..95062724-chr9:95083607..95090664,16	MCF-7	breast:
12	chr13:115000124..115000635-chr9:95056223..95056723,2	NB4	blood:
13	chr9:95041855..95050591-chr9:95053528..95058799,10	MCF-7	breast:
14	chr9:94923018..94924668-chr9:95056057..95058529,2	K562	blood:
15	chr9:94907173..94909059-chr9:95054876..95056486,2	MCF-7	breast:
16	chr9:95056178..95058167-chr9:95374802..95377179,2	K562	blood:
17	chr16:71495701..71496536-chr9:95055685..95056447,2	HCT-116	colon:
18	chr9:94875730..94878651-chr9:95055011..95057658,2	K562	blood:
19	chr9:95010979..95013884-chr9:95056312..95058270,2	K562	blood:

Variant related genes	Relation type
SNORA84	TF binding region
IARS	TF binding region
ENSG00000196305	Chromatin interaction
ENSG00000225511	Chromatin interaction
ENSG00000090054	Chromatin interaction
ENSG00000167377	Chromatin interaction
ENSG00000238996	Chromatin interaction
ENSG00000198000	Chromatin interaction
ENSG00000247324	Chromatin interaction
ENSG00000101146	Chromatin interaction
ENSG00000185963	Chromatin interaction
ENSG00000188312	Chromatin interaction
ENSG00000130177	Chromatin interaction

Extended variants
information (count: 167 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:161)

rs_ID	r²[population]
rs15717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16908147	1.00[MKK][hapmap]
rs16908281	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17518691	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17518754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17519320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17519397	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17519453	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17519719	1.00[CHB][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs17519922	1.00[AMR][1000 genomes]
rs17590748	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17591007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17591372	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17591776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs17591958	1.00[AMR][1000 genomes]
rs17677599	0.90[ASN][1000 genomes]
rs17678735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2230405	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2236343	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2236344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2273860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2274967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28365880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34758505	0.93[AMR][1000 genomes]
rs34860658	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3736834	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737147	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3758228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3758231	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758232	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3780342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3780348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs3780349	1.00[AMR][1000 genomes]
rs3858097	1.00[CHB][hapmap];0.89[CHD][hapmap]
rs41276835	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41277647	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41277739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41280223	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41297183	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41301527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs41307467	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41312230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4298540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59083571	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59627747	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61742574	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67546506	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750403	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750404	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750405	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750407	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750408	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750409	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750418	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750419	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750420	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750421	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750422	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750426	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750427	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750430	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750431	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750432	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750433	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750434	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750437	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750438	0.83[EUR][1000 genomes]
rs72750441	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750445	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750447	1.00[ASN][1000 genomes]
rs72750448	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750449	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750450	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750451	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750454	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750456	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750457	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750458	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750465	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750469	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750474	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750477	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750478	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750483	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750485	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750491	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750496	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72750498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750500	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72750502	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752404	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752406	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752417	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72752419	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752422	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72752425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752435	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72752442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752457	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752467	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72752469	1.00[AMR][1000 genomes]
rs72752471	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752472	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752474	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72752475	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752477	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752479	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752482	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752483	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752484	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752485	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752486	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752492	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752493	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752497	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752502	1.00[AMR][1000 genomes]
rs72754403	1.00[AMR][1000 genomes]
rs72754404	1.00[AMR][1000 genomes]
rs72754408	1.00[AMR][1000 genomes]
rs72754410	1.00[AMR][1000 genomes]
rs72754411	1.00[AMR][1000 genomes]
rs72754415	1.00[AMR][1000 genomes]
rs72754418	1.00[AMR][1000 genomes]
rs72754420	1.00[AMR][1000 genomes]
rs72754421	1.00[AMR][1000 genomes]
rs72754423	1.00[AMR][1000 genomes]
rs72754425	1.00[AMR][1000 genomes]
rs72754427	1.00[AMR][1000 genomes]
rs7872423	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs921122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3758230	WNT5A	trans	lymphoblastoid	seeQTL
rs3758230	GPER	trans	lymphoblastoid	seeQTL
rs3758230	IL13RA1	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95053400-95056600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:95053600-95057200	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr9:95054000-95056800	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr9:95054200-95057200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr9:95054400-95057200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr9:95054400-95057200	Active TSS	A549	lung
7	chr9:95054600-95057000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr9:95054600-95057000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:95054600-95057400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr9:95054800-95056600	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr9:95054800-95056600	Active TSS	Muscle Satellite Cultured Cells	--
12	chr9:95055000-95056600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:95055000-95056600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:95055000-95056600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:95055000-95056600	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr9:95055000-95056600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:95055000-95056600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr9:95055000-95056600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:95055000-95056600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:95055000-95056600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:95055000-95056600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:95055000-95056600	Active TSS	Fetal Intestine Small	intestine
23	chr9:95055000-95056600	Active TSS	Fetal Muscle Leg	muscle
24	chr9:95055000-95056600	Active TSS	Right Ventricle	heart
25	chr9:95055000-95056600	Active TSS	Stomach Mucosa	stomach
26	chr9:95055000-95056600	Active TSS	HSMM	muscle
27	chr9:95055000-95056600	Active TSS	K562	blood
28	chr9:95055000-95056600	Active TSS	NHDF-Ad	bronchial
29	chr9:95055000-95056800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr9:95055000-95056800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:95055000-95056800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr9:95055000-95056800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr9:95055000-95056800	Active TSS	Psoas Muscle	Psoas
34	chr9:95055000-95056800	Active TSS	HSMMtube	muscle
35	chr9:95055000-95057000	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr9:95055000-95057000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr9:95055000-95057000	Active TSS	Right Atrium	heart
38	chr9:95055000-95057000	Active TSS	GM12878-XiMat	blood
39	chr9:95055000-95057200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr9:95055000-95057200	Active TSS	H1 Cell Line	embryonic stem cell
41	chr9:95055200-95056600	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr9:95055200-95056600	Active TSS	Colonic Mucosa	Colon
43	chr9:95055200-95056600	Active TSS	Fetal Brain Male	brain
44	chr9:95055200-95056600	Active TSS	Fetal Brain Female	brain
45	chr9:95055200-95056600	Active TSS	Placenta	Placenta
46	chr9:95055200-95056600	Active TSS	Fetal Stomach	stomach
47	chr9:95055200-95056600	Active TSS	Fetal Thymus	thymus
48	chr9:95055200-95056600	Active TSS	Placenta Amnion	Placenta Amnion
49	chr9:95055200-95056600	Active TSS	Thymus	Thymus
50	chr9:95055200-95056600	Active TSS	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links