Variant report

Variant	rs7969749
Chromosome Location	chr12:48550755-48550756
allele	C/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	MYBL2	chr12:48550682-48551559	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:48550737-48551750	GM19099	blood:	n/a	n/a
3	GABPA	chr12:48550721-48551605	SK-N-SH	brain:	n/a	chr12:48551389-48551403 chr12:48551354-48551368 chr12:48551354-48551365 chr12:48551471-48551485 chr12:48550840-48550849 chr12:48551474-48551488 chr12:48551391-48551400 chr12:48551356-48551365 chr12:48551389-48551400 chr12:48551386-48551400 chr12:48550946-48550955
4	POLR2A	chr12:48550707-48551777	GM12891	blood:	n/a	n/a
5	RAD21	chr12:48550747-48551030	K562	blood:	n/a	n/a
6	GABPA	chr12:48550707-48551540	K562	blood:	n/a	chr12:48551389-48551403 chr12:48551354-48551368 chr12:48551354-48551365 chr12:48551471-48551485 chr12:48550840-48550849 chr12:48551474-48551488 chr12:48551391-48551400 chr12:48551356-48551365 chr12:48551389-48551400 chr12:48551386-48551400 chr12:48550946-48550955
7	EP300	chr12:48550653-48550761	K562	blood:	n/a	n/a
8	POLR2A	chr12:48550278-48551714	GM12878	blood:	n/a	n/a
9	ETS1	chr12:48550733-48551031	K562	blood:	n/a	chr12:48550840-48550851
10	POLR2A	chr12:48550626-48552164	GM12891	blood:	n/a	n/a
11	MXI1	chr12:48550648-48551454	K562	blood:	n/a	n/a
12	MXI1	chr12:48550579-48551607	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAZ	chr12:48550747-48551534	HepG2	liver:	n/a	chr12:48550841-48550851
14	GABPA	chr12:48550619-48551757	A549	lung:	n/a	chr12:48551389-48551403 chr12:48551354-48551368 chr12:48551354-48551365 chr12:48551471-48551485 chr12:48550840-48550849 chr12:48551474-48551488 chr12:48551391-48551400 chr12:48551356-48551365 chr12:48551389-48551400 chr12:48551386-48551400 chr12:48550946-48550955
15	POLR2A	chr12:48550750-48551734	GM18951	blood:	n/a	n/a
16	MAX	chr12:48550725-48551644	A549	lung:	n/a	chr12:48550841-48550851
17	POLR2A	chr12:48550749-48551721	GM18526	blood:	n/a	n/a
18	MAX	chr12:48550705-48552014	ECC-1	luminal epithelium:	n/a	chr12:48551930-48551940 chr12:48550841-48550851
19	MAZ	chr12:48550585-48551650	K562	blood:	n/a	chr12:48550841-48550851
20	POLR2A	chr12:48550749-48552090	GM12892	blood:	n/a	n/a
21	GABPA	chr12:48550681-48551696	HL-60	blood:	n/a	chr12:48551389-48551403 chr12:48551354-48551368 chr12:48551354-48551365 chr12:48551471-48551485 chr12:48550840-48550849 chr12:48551474-48551488 chr12:48551391-48551400 chr12:48551356-48551365 chr12:48551389-48551400 chr12:48551386-48551400 chr12:48550946-48550955
22	ZMIZ1	chr12:48550558-48550757	K562	blood:	n/a	n/a
23	TAF1	chr12:48550680-48551712	H1-neurons	neurons:	n/a	n/a
24	RUNX3	chr12:48550720-48552133	GM12878	blood:	n/a	n/a
25	POLR2A	chr12:48550736-48551653	K562	blood:	n/a	n/a
26	POLR2A	chr12:48550715-48551716	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr12:48550545-48551694	MCF10A-Er-Src	breast:	n/a	n/a
28	SIN3AK20	chr12:48550739-48551617	PANC-1	pancreas:	n/a	n/a
29	SIN3AK20	chr12:48550616-48551528	H1-hESC	embryonic stem cell:	n/a	n/a
30	SREBP1	chr12:48550326-48552361	GM12878	blood:	n/a	n/a
31	YY1	chr12:48550746-48551691	HepG2	liver:	n/a	chr12:48550838-48550852 chr12:48550840-48550849 chr12:48550946-48550955
32	GTF2F1	chr12:48550559-48551986	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr12:48550724-48551736	ECC-1	luminal epithelium:	n/a	n/a
34	ELK1	chr12:48550696-48551537	K562	blood:	n/a	n/a
35	TCF12	chr12:48550646-48551810	A549	lung:	n/a	chr12:48550899-48550906 chr12:48551602-48551612
36	POLR2A	chr12:48550727-48550755	K562	blood:	n/a	n/a
37	POLR2A	chr12:48550684-48551830	HUVEC	blood vessel:	n/a	n/a
38	SIN3AK20	chr12:48550703-48551459	K562	blood:	n/a	n/a
39	TCF12	chr12:48550565-48551638	ECC-1	luminal epithelium:	n/a	chr12:48550899-48550906 chr12:48551602-48551612
40	POLR2A	chr12:48550686-48551760	H1-neurons	neurons:	n/a	n/a
41	POLR2A	chr12:48550651-48551824	PFSK-1	brain:	n/a	n/a
42	POLR2A	chr12:48550482-48551729	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr12:48550502-48551656	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr12:48550736-48551761	GM12891	blood:	n/a	n/a
45	TCF12	chr12:48550663-48551907	ECC-1	luminal epithelium:	n/a	chr12:48550899-48550906 chr12:48551602-48551612
46	POLR2A	chr12:48550750-48551763	GM12892	blood:	n/a	n/a
47	POLR2A	chr12:48550710-48551750	HL-60	blood:	n/a	n/a
48	MAX	chr12:48550747-48552087	K562	blood:	n/a	chr12:48551930-48551940 chr12:48550841-48550851
49	EGR1	chr12:48550688-48550993	K562	blood:	n/a	chr12:48550941-48550954 chr12:48550946-48550956 chr12:48550839-48550849 chr12:48550841-48550854 chr12:48550842-48550852 chr12:48550841-48550854 chr12:48550840-48550855
50	SIN3AK20	chr12:48550475-48551899	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:48550727-48550777	CMK	blood:	n/a
2	chr12:48550727-48550777	NHDF-neo	bronchial:	n/a
3	chr12:48550727-48550777	Hepatocyte	liver:	n/a
4	chr12:48550727-48550777	HIPEpiC	eye:	n/a
5	chr12:48550727-48550777	HL-60	blood:	n/a
6	chr12:48550727-48550777	GM19239	blood:	n/a
7	chr12:48550727-48550777	K562	blood:	n/a
8	chr12:48550727-48550777	SK-N-SH	brain:	n/a
9	chr12:48550727-48550777	HRE	kidney:	n/a
10	chr12:48550727-48550777	U87	brain:	n/a
11	chr12:48550727-48550777	HAEpiC	amniotic membrane:	n/a
12	chr12:48550727-48550777	NT2-D1	testis:	n/a
13	chr12:48550727-48550777	HEK293	kidney:	embryo
14	chr12:48550727-48550777	PrEC	prostate:	n/a
15	chr12:48550727-48550777	SK-N-SH_RA	brain:	n/a
16	chr12:48550727-48550777	SK-N-MC	brain:	n/a
17	chr12:48550727-48550777	AG09309	skin:	n/a
18	chr12:48550727-48550777	Hela-S3	cervix:	n/a
19	chr12:48550727-48550777	HNPCEpiC	eye:	n/a
20	chr12:48550727-48550777	AG04450	lung:	fetal
21	chr12:48550727-48550777	AG09319	gingival:	n/a
22	chr12:48550727-48550777	RPTEC	kidney:	n/a
23	chr12:48550727-48550777	IMR90	lung:	fetal
24	chr12:48550727-48550777	AG04449	skin:	fetal
25	chr12:48550727-48550777	NB4	blood:	n/a
26	chr12:48550727-48550777	HCM	heart:	n/a
27	chr12:48550727-48550777	GM12891	blood:	n/a
28	chr12:48550727-48550777	PANC-1	pancreas:	n/a
29	chr12:48550727-48550777	Caco-2	colon:	n/a
30	chr12:48550727-48550777	HCF	heart:	n/a
31	chr12:48550727-48550777	HPAEpiC	pulmonary alveolar:	n/a
32	chr12:48550727-48550777	BJ	skin:	n/a
33	chr12:48550727-48550777	HMEC	breast:	n/a
34	chr12:48550727-48550777	A549	lung:	n/a
35	chr12:48550727-48550777	MCF10A-Er-Src	breast:	n/a
36	chr12:48550727-48550777	GM12878	blood:	n/a
37	chr12:48550727-48550777	GM06990	blood:	n/a
38	chr12:48550727-48550777	GM12892	blood:	n/a
39	chr12:48550727-48550777	SAEC	small airway:	n/a
40	chr12:48550727-48550777	PFSK-1	brain:	n/a
41	chr12:48550727-48550777	T-47D	breast:	n/a
42	chr12:48550727-48550777	ovcar-3	ovarian:	n/a
43	chr12:48550727-48550777	Jurkat	blood:	n/a
44	chr12:48550727-48550777	H1-hESC	embryonic stem cell:	embryo
45	chr12:48550727-48550777	AG10803	skin:	n/a
46	chr12:48550727-48550777	ECC-1	luminal epithelium:	n/a
47	chr12:48550727-48550777	MCF-7	breast:	n/a
48	chr12:48550727-48550777	BE2_C	brain:	n/a
49	chr12:48550727-48550777	SKMC	muscle:	n/a
50	chr12:48550727-48550777	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48496939..48501728-chr12:48549612..48553634,6	MCF-7	breast:
2	chr12:48545842..48549323-chr12:48549562..48552963,3	MCF-7	breast:
3	chr12:48549998..48552316-chr12:48577251..48580205,2	MCF-7	breast:
4	chr12:48549682..48552268-chr12:48561692..48563746,2	K562	blood:
5	chr12:48549661..48552655-chr12:48590661..48593368,4	K562	blood:
6	chr12:48416900..48419304-chr12:48549157..48552214,3	MCF-7	breast:
7	chr12:48496998..48499694-chr12:48547936..48550832,3	K562	blood:
8	chr12:48499494..48502600-chr12:48549917..48552067,4	MCF-7	breast:
9	chr12:48511519..48514886-chr12:48548320..48552889,5	K562	blood:
10	chr12:48548408..48551386-chr12:48576630..48579457,3	K562	blood:
11	chr12:48355845..48358792-chr12:48550018..48552863,2	K562	blood:
12	chr12:48513678..48516460-chr12:48549350..48551168,2	MCF-7	breast:
13	chr12:48495831..48503326-chr12:48548997..48555180,8	K562	blood:
14	chr12:48545367..48547255-chr12:48549317..48550994,3	MCF-7	breast:
15	chr12:48549910..48551454-chr12:48590661..48592818,2	K562	blood:
16	chr12:48497572..48499249-chr12:48549769..48551418,2	MCF-7	breast:
17	chr12:48493205..48495553-chr12:48549427..48551502,2	MCF-7	breast:
18	chr12:48541868..48544385-chr12:48549459..48551114,2	MCF-7	breast:

Variant related genes	Relation type
ASB8	TF binding region
ASB8	CpG island
ENSG00000152556	Chromatin interaction
ENSG00000134291	Chromatin interaction
ENSG00000177875	Chromatin interaction
ENSG00000269514	Chromatin interaction
ENSG00000079387	Chromatin interaction
ENSG00000177981	Chromatin interaction
ENSG00000257955	Chromatin interaction
ENSG00000257885	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1018973	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10492080	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10783230	0.93[ASN][1000 genomes]
rs10783231	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10783232	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10783233	0.80[ASN][1000 genomes]
rs10875751	0.89[ASN][1000 genomes]
rs11168451	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs11168455	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs11609399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11612578	0.88[CEU][hapmap];0.95[JPT][hapmap]
rs11613485	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11613781	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12580764	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12581972	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12822085	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1476608	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1489111	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs17122565	0.95[JPT][hapmap]
rs17122611	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17122612	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17122613	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17122651	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1859441	0.86[CEU][hapmap];0.86[YRI][hapmap]
rs1968071	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2054902	0.81[JPT][hapmap]
rs2258342	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2634679	0.81[JPT][hapmap]
rs2634699	0.82[CHB][hapmap]
rs2732455	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs2732477	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs2732487	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs3742074	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4075913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4141065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4293182	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4589362	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4760611	0.86[CEU][hapmap];0.95[JPT][hapmap]
rs4760620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4760683	0.87[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4760685	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4760692	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4760698	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs57054831	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57380031	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs57655233	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58046797	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58331734	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59766465	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60567660	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60681522	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6580653	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6580656	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6580660	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7133249	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs726354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72644843	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72644844	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72644845	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72644846	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72644847	0.91[EUR][1000 genomes]
rs7296913	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7305418	0.85[CEU][hapmap];0.80[ASN][1000 genomes]
rs7312326	0.86[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7313023	0.80[ASN][1000 genomes]
rs7315258	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7485057	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7485824	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs757556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7959755	0.94[CEU][hapmap];1.00[YRI][hapmap]
rs7963934	0.93[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7967762	0.80[CEU][hapmap]
rs7971668	0.94[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs879242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs901962	0.81[JPT][hapmap]
rs901963	0.81[JPT][hapmap]
rs901964	0.86[CHB][hapmap];0.81[JPT][hapmap]

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	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv508673	chr12:48489786-48567138	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7969749	ZNF641	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48536800-48550800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:48549600-48551600	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr12:48550000-48550800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr12:48550000-48550800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:48550000-48551400	Active TSS	GM12878-XiMat	blood
6	chr12:48550000-48551600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr12:48550000-48551600	Active TSS	NHDF-Ad	bronchial
8	chr12:48550000-48551800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr12:48550200-48550800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:48550200-48550800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr12:48550200-48550800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:48550200-48550800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr12:48550200-48550800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:48550200-48550800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr12:48550200-48550800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr12:48550200-48550800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:48550200-48550800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr12:48550200-48550800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:48550200-48550800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:48550200-48550800	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr12:48550200-48550800	Flanking Active TSS	Liver	Liver
22	chr12:48550200-48550800	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr12:48550200-48550800	Flanking Active TSS	Fetal Stomach	stomach
24	chr12:48550200-48550800	Flanking Active TSS	HUVEC	blood vessel
25	chr12:48550200-48550800	Flanking Active TSS	NHEK	skin
26	chr12:48550200-48551000	Active TSS	Fetal Muscle Trunk	muscle
27	chr12:48550200-48551600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:48550200-48551600	Active TSS	Brain Anterior Caudate	brain
29	chr12:48550200-48551600	Active TSS	NHLF	lung
30	chr12:48550200-48551800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:48550200-48551800	Active TSS	Ovary	ovary
32	chr12:48550200-48551800	Active TSS	Psoas Muscle	Psoas
33	chr12:48550200-48552000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr12:48550200-48552000	Active TSS	Colon Smooth Muscle	Colon
35	chr12:48550200-48552200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:48550400-48550800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr12:48550400-48550800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:48550400-48550800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
39	chr12:48550400-48550800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr12:48550400-48550800	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr12:48550400-48550800	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr12:48550400-48550800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr12:48550400-48550800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:48550400-48550800	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr12:48550400-48550800	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr12:48550400-48550800	Flanking Active TSS	Fetal Brain Male	brain
47	chr12:48550400-48550800	Flanking Active TSS	Fetal Heart	heart
48	chr12:48550400-48550800	Flanking Active TSS	Placenta	Placenta
49	chr12:48550400-48550800	Flanking Active TSS	Fetal Thymus	thymus
50	chr12:48550400-48550800	Enhancers	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links