Variant report

Variant	rs61943670
Chromosome Location	chr12:106751805-106751806
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	CTCF	chr12:106751700-106751814	MCF-7	breast:	n/a	n/a
2	MAFK	chr12:106751083-106752555	Hela-S3	cervix:	n/a	n/a
3	PBX3	chr12:106751307-106752149	A549	lung:	n/a	n/a
4	MAX	chr12:106751211-106752526	SK-N-SH	brain:	n/a	n/a
5	HCFC1	chr12:106750814-106752948	Hela-S3	cervix:	n/a	n/a
6	TAF1	chr12:106751364-106752071	PFSK-1	brain:	n/a	n/a
7	RCOR1	chr12:106751159-106752825	K562	blood:	n/a	n/a
8	GTF2F1	chr12:106751254-106752550	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr12:106751345-106753059	HepG2	liver:	n/a	n/a
10	TAF1	chr12:106751350-106752198	GM12891	blood:	n/a	n/a
11	GATA3	chr12:106751150-106752747	A549	lung:	n/a	chr12:106752353-106752365 chr12:106752351-106752367 chr12:106752353-106752360 chr12:106752345-106752361
12	FOSL2	chr12:106751121-106752529	A549	lung:	n/a	n/a
13	NRF1	chr12:106751256-106752071	GM12878	blood:	n/a	chr12:106751867-106751878 chr12:106751901-106751910 chr12:106751846-106751860 chr12:106751830-106751841 chr12:106751849-106751863 chr12:106751849-106751860 chr12:106751830-106751844 chr12:106751613-106751622 chr12:106751829-106751840 chr12:106751830-106751839 chr12:106751832-106751841 chr12:106751849-106751860 chr12:106751827-106751841
14	MYC	chr12:106751336-106752538	K562	blood:	n/a	n/a
15	CTCF	chr12:106751660-106751810	BE2_C	brain:	n/a	n/a
16	YY1	chr12:106751334-106752191	HepG2	liver:	n/a	chr12:106751940-106751951
17	SP1	chr12:106751310-106751875	GM12878	blood:	n/a	chr12:106751809-106751821 chr12:106751811-106751820 chr12:106751810-106751819 chr12:106751809-106751821
18	GABPA	chr12:106751172-106752094	HL-60	blood:	n/a	chr12:106751901-106751910 chr12:106751846-106751860 chr12:106751830-106751841 chr12:106751849-106751863 chr12:106751849-106751860 chr12:106751830-106751844 chr12:106751613-106751622 chr12:106751830-106751839 chr12:106751832-106751841 chr12:106751827-106751841
19	CHD2	chr12:106751261-106751805	H1-hESC	embryonic stem cell:	n/a	n/a
20	STAT3	chr12:106751067-106752088	GM12878	blood:	n/a	n/a
21	EGR1	chr12:106751345-106752134	K562	blood:	n/a	chr12:106751831-106751840 chr12:106751901-106751910 chr12:106751772-106751787 chr12:106751773-106751786
22	ATF3	chr12:106751335-106751901	K562	blood:	n/a	chr12:106751810-106751819
23	JUND	chr12:106751245-106752813	K562	blood:	n/a	n/a
24	ETS1	chr12:106751245-106751806	A549	lung:	n/a	n/a
25	REST	chr12:106751402-106751998	HepG2	liver:	n/a	n/a
26	POLR2A	chr12:106751337-106752485	GM12892	blood:	n/a	n/a
27	MAX	chr12:106751191-106752575	HepG2	liver:	n/a	n/a
28	E2F4	chr12:106751145-106751963	MCF10A-Er-Src	breast:	n/a	chr12:106751613-106751622 chr12:106751831-106751840 chr12:106751810-106751819
29	HDAC2	chr12:106751315-106752438	HepG2	liver:	n/a	chr12:106751901-106751910
30	MYC	chr12:106751326-106752553	K562	blood:	n/a	n/a
31	HEY1	chr12:106751322-106752791	HepG2	liver:	n/a	n/a
32	SIN3AK20	chr12:106751760-106752057	SK-N-SH	brain:	n/a	n/a
33	CTCF	chr12:106751165-106751824	IMR90	lung:	n/a	chr12:106751436-106751446 chr12:106751433-106751454 chr12:106751432-106751448
34	MAX	chr12:106751113-106752706	A549	lung:	n/a	n/a
35	EP300	chr12:106751311-106752453	HepG2	liver:	n/a	chr12:106751946-106751955 chr12:106751613-106751622
36	CTCF	chr12:106751720-106751870	GM12871	blood:	n/a	n/a
37	TAF1	chr12:106751284-106752209	GM12878	blood:	n/a	n/a
38	ELF1	chr12:106751205-106751883	SK-N-SH	brain:	n/a	chr12:106751635-106751648 chr12:106751470-106751481 chr12:106751470-106751481
39	CHD2	chr12:106751297-106752545	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr12:106751322-106752567	HL-60	blood:	n/a	n/a
41	POLR2A	chr12:106751203-106753095	GM12891	blood:	n/a	n/a
42	UBTF	chr12:106751292-106752790	K562	blood:	n/a	n/a
43	MYC	chr12:106751361-106752158	HUVEC	blood vessel:	n/a	n/a
44	TAF1	chr12:106751236-106752353	ECC-1	luminal epithelium:	n/a	n/a
45	NFATC1	chr12:106751283-106751821	GM12878	blood:	n/a	n/a
46	CEBPD	chr12:106751328-106752757	K562	blood:	n/a	n/a
47	TAF1	chr12:106751246-106752125	H1-neurons	neurons:	n/a	n/a
48	POLR2A	chr12:106751340-106752193	GM12891	blood:	n/a	n/a
49	POLR2A	chr12:106751261-106752226	H1-hESC	embryonic stem cell:	n/a	n/a
50	BCL3	chr12:106751145-106752141	A549	lung:	n/a	chr12:106751616-106751625 chr12:106751942-106751955 chr12:106751929-106751937

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:106751790-106751840	MCF10A-Er-Src	breast:	n/a
2	chr12:106751799-106751849	HRPEpiC	eye:	n/a
3	chr12:106751799-106751849	HCPEpiC	choroid plexus:	n/a
4	chr12:106751799-106751849	HAEpiC	amniotic membrane:	n/a
5	chr12:106751790-106751840	Jurkat	blood:	n/a
6	chr12:106751799-106751849	SK-N-SH_RA	brain:	n/a
7	chr12:106751790-106751840	HL-60	blood:	n/a
8	chr12:106751790-106751840	BE2_C	brain:	n/a
9	chr12:106751790-106751840	MCF-7	breast:	n/a
10	chr12:106751799-106751849	RPTEC	kidney:	n/a
11	chr12:106751799-106751849	GM19239	blood:	n/a
12	chr12:106751790-106751840	NHBE	bronchial:	n/a
13	chr12:106751799-106751849	HMEC	breast:	n/a
14	chr12:106751799-106751849	SKMC	muscle:	n/a
15	chr12:106751799-106751849	H1-hESC	embryonic stem cell:	embryo
16	chr12:106751799-106751849	IMR90	lung:	fetal
17	chr12:106751790-106751840	AG09319	gingival:	n/a
18	chr12:106751799-106751849	Hepatocyte	liver:	n/a
19	chr12:106751790-106751840	NH-A	brain:	n/a
20	chr12:106751790-106751840	HCM	heart:	n/a
21	chr12:106751799-106751849	U87	brain:	n/a
22	chr12:106751790-106751840	IMR90	lung:	fetal
23	chr12:106751799-106751849	HCF	heart:	n/a
24	chr12:106751799-106751849	GM12892	blood:	n/a
25	chr12:106751799-106751849	HEK293	kidney:	embryo
26	chr12:106751790-106751840	ovcar-3	ovarian:	n/a
27	chr12:106751799-106751849	NHBE	bronchial:	n/a
28	chr12:106751799-106751849	A549	lung:	n/a
29	chr12:106751790-106751840	AG04449	skin:	fetal
30	chr12:106751799-106751849	K562	blood:	n/a
31	chr12:106751799-106751849	AG04449	skin:	fetal
32	chr12:106751799-106751849	SK-N-MC	brain:	n/a
33	chr12:106751799-106751849	ProgFib	skin:	n/a
34	chr12:106751799-106751849	BJ	skin:	n/a
35	chr12:106751799-106751849	AG10803	skin:	n/a
36	chr12:106751799-106751849	T-47D	breast:	n/a
37	chr12:106751799-106751849	NH-A	brain:	n/a
38	chr12:106751790-106751840	K562	blood:	n/a
39	chr12:106751790-106751840	SKMC	muscle:	n/a
40	chr12:106751790-106751840	HCT-116	colon:	n/a
41	chr12:106751790-106751840	HIPEpiC	eye:	n/a
42	chr12:106751799-106751849	HepG2	liver:	n/a
43	chr12:106751799-106751849	AG09309	skin:	n/a
44	chr12:106751790-106751840	Hepatocyte	liver:	n/a
45	chr12:106751799-106751849	Caco-2	colon:	n/a
46	chr12:106751799-106751849	GM12878	blood:	n/a
47	chr12:106751790-106751840	HUVEC	blood vessel:	n/a
48	chr12:106751799-106751849	HUVEC	blood vessel:	n/a
49	chr12:106751790-106751840	AoSMC	blood vessel:	n/a
50	chr12:106751790-106751840	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:106749203..106751877-chr12:107263250..107266129,2	MCF-7	breast:
2	chr12:106694726..106698780-chr12:106749876..106753760,9	K562	blood:
3	chr12:106531533..106535020-chr12:106751427..106753733,3	MCF-7	breast:
4	chr12:106695715..106698780-chr12:106751795..106753760,4	K562	blood:
5	chr12:106693946..106698218-chr12:106750404..106754111,7	MCF-7	breast:
6	chr12:106749890..106753405-chr12:107348464..107352140,5	MCF-7	breast:
7	chr12:106639673..106643649-chr12:106748400..106753718,9	MCF-7	breast:
8	chr12:106532785..106534884-chr12:106750299..106753050,2	MCF-7	breast:
9	chr12:106640021..106643402-chr12:106749618..106753030,5	MCF-7	breast:
10	chr12:46776676..46779494-chr12:106750626..106752443,2	MCF-7	breast:

Variant related genes	Relation type
POLR3B	TF binding region
POLR3B	CpG island
ENSG00000257261	Chromatin interaction
ENSG00000136026	Chromatin interaction
ENSG00000166046	Chromatin interaction
ENSG00000258355	Chromatin interaction
ENSG00000151135	Chromatin interaction
ENSG00000260329	Chromatin interaction
ENSG00000074590	Chromatin interaction
ENSG00000111785	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10444532	0.87[EUR][1000 genomes]
rs10507211	0.81[ASN][1000 genomes]
rs10746059	0.81[ASN][1000 genomes]
rs10746060	0.86[EUR][1000 genomes]
rs10778464	0.96[ASN][1000 genomes]
rs10778465	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10778466	0.86[EUR][1000 genomes]
rs10778468	0.85[EUR][1000 genomes]
rs10778469	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10778471	0.85[EUR][1000 genomes]
rs10778473	0.82[EUR][1000 genomes]
rs10778474	0.82[EUR][1000 genomes]
rs10778476	0.88[EUR][1000 genomes]
rs10861577	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10861578	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10861579	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10861580	0.85[ASN][1000 genomes]
rs10861581	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10861582	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10861583	0.81[ASN][1000 genomes]
rs10861585	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10861586	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10861587	0.81[ASN][1000 genomes]
rs10861589	0.85[ASN][1000 genomes]
rs10861592	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10861593	0.94[EUR][1000 genomes]
rs10861595	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10861601	0.85[EUR][1000 genomes]
rs10861605	0.82[EUR][1000 genomes]
rs10861608	0.88[EUR][1000 genomes]
rs11112940	0.96[ASN][1000 genomes]
rs11112942	0.96[ASN][1000 genomes]
rs11112943	0.96[ASN][1000 genomes]
rs11112945	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11112948	0.96[ASN][1000 genomes]
rs11112949	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11112951	0.81[ASN][1000 genomes]
rs11112952	0.81[ASN][1000 genomes]
rs11112953	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11112957	0.85[ASN][1000 genomes]
rs11112961	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11112971	0.86[EUR][1000 genomes]
rs11112979	0.85[EUR][1000 genomes]
rs11112980	0.84[EUR][1000 genomes]
rs11112990	0.82[EUR][1000 genomes]
rs11112991	0.84[EUR][1000 genomes]
rs11112992	0.91[EUR][1000 genomes]
rs11112993	0.85[EUR][1000 genomes]
rs11113003	0.81[EUR][1000 genomes]
rs11113004	0.88[EUR][1000 genomes]
rs11113009	0.88[EUR][1000 genomes]
rs1134577	0.96[ASN][1000 genomes]
rs11609315	0.92[EUR][1000 genomes]
rs11611176	0.92[EUR][1000 genomes]
rs11611815	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12305705	0.85[EUR][1000 genomes]
rs12312915	0.85[EUR][1000 genomes]
rs12422988	0.96[ASN][1000 genomes]
rs12423068	0.88[EUR][1000 genomes]
rs12424952	0.89[ASN][1000 genomes]
rs12425459	0.88[EUR][1000 genomes]
rs17038414	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17218490	0.89[ASN][1000 genomes]
rs17284674	0.96[ASN][1000 genomes]
rs17285274	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1921952	0.96[ASN][1000 genomes]
rs2141774	0.85[EUR][1000 genomes]
rs2243455	0.96[ASN][1000 genomes]
rs2374606	0.86[EUR][1000 genomes]
rs2374610	0.89[EUR][1000 genomes]
rs28669886	0.96[ASN][1000 genomes]
rs2888888	0.96[ASN][1000 genomes]
rs2900499	0.86[EUR][1000 genomes]
rs2900500	0.86[EUR][1000 genomes]
rs34955444	0.81[ASN][1000 genomes]
rs3851631	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3851632	0.83[EUR][1000 genomes]
rs4509864	0.89[ASN][1000 genomes]
rs4625578	0.85[EUR][1000 genomes]
rs55678155	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55689816	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58297001	0.96[ASN][1000 genomes]
rs58767490	0.96[ASN][1000 genomes]
rs60224628	0.96[ASN][1000 genomes]
rs60839334	0.89[ASN][1000 genomes]
rs61940334	0.96[ASN][1000 genomes]
rs61940335	0.96[ASN][1000 genomes]
rs61940342	0.96[ASN][1000 genomes]
rs61941917	0.84[EUR][1000 genomes]
rs61941918	0.89[EUR][1000 genomes]
rs61941920	0.87[EUR][1000 genomes]
rs61941921	0.81[EUR][1000 genomes]
rs61941944	0.81[EUR][1000 genomes]
rs61943672	0.81[ASN][1000 genomes]
rs61943690	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6539268	0.86[EUR][1000 genomes]
rs67911933	0.85[ASN][1000 genomes]
rs67966244	0.91[EUR][1000 genomes]
rs7132744	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7132971	0.96[ASN][1000 genomes]
rs7134615	0.85[EUR][1000 genomes]
rs7135054	0.81[ASN][1000 genomes]
rs7136098	0.82[EUR][1000 genomes]
rs7139139	0.85[EUR][1000 genomes]
rs7298062	0.80[EUR][1000 genomes]
rs7306012	0.96[ASN][1000 genomes]
rs7309020	0.82[EUR][1000 genomes]
rs7310703	0.81[ASN][1000 genomes]
rs7311957	0.85[ASN][1000 genomes]
rs7961133	0.96[ASN][1000 genomes]
rs7971581	0.81[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61943670	ENSG00000013503	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106750800-106752200	Active TSS	HMEC	breast
2	chr12:106751000-106752200	Active TSS	Brain Germinal Matrix	brain
3	chr12:106751000-106752200	Active TSS	Brain Hippocampus Middle	brain
4	chr12:106751000-106752200	Active TSS	Fetal Muscle Trunk	muscle
5	chr12:106751000-106752200	Active TSS	Fetal Thymus	thymus
6	chr12:106751000-106752200	Active TSS	Thymus	Thymus
7	chr12:106751000-106752400	Active TSS	Colonic Mucosa	Colon
8	chr12:106751000-106752400	Active TSS	Fetal Muscle Leg	muscle
9	chr12:106751000-106752400	Active TSS	NHLF	lung
10	chr12:106751000-106752600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:106751000-106752600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:106751000-106752600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:106751000-106752600	Active TSS	Psoas Muscle	Psoas
14	chr12:106751000-106752600	Active TSS	Right Atrium	heart
15	chr12:106751000-106752800	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr12:106751000-106752800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:106751000-106752800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:106751000-106752800	Active TSS	Right Ventricle	heart
19	chr12:106751000-106752800	Active TSS	HSMM	muscle
20	chr12:106751000-106752800	Active TSS	HSMMtube	muscle
21	chr12:106751000-106753000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:106751200-106752000	Active TSS	Stomach Smooth Muscle	stomach
23	chr12:106751200-106752200	Active TSS	Brain Anterior Caudate	brain
24	chr12:106751200-106752200	Active TSS	K562	blood
25	chr12:106751200-106752400	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr12:106751200-106752400	Active TSS	Fetal Intestine Large	intestine
27	chr12:106751200-106752400	Active TSS	Fetal Stomach	stomach
28	chr12:106751200-106752400	Active TSS	Rectal Smooth Muscle	rectum
29	chr12:106751200-106752600	Active TSS	H1 Cell Line	embryonic stem cell
30	chr12:106751200-106752600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:106751200-106752600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:106751200-106752600	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr12:106751200-106752600	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr12:106751200-106752600	Active TSS	Ovary	ovary
35	chr12:106751200-106752600	Active TSS	A549	lung
36	chr12:106751200-106752600	Active TSS	NHDF-Ad	bronchial
37	chr12:106751200-106752800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:106751200-106752800	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr12:106751200-106752800	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr12:106751200-106752800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:106751200-106752800	Active TSS	Placenta Amnion	Placenta Amnion
42	chr12:106751200-106753000	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr12:106751200-106753000	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr12:106751200-106753000	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr12:106751400-106752000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:106751400-106752000	Active TSS	Primary monocytes fromperipheralblood	blood
47	chr12:106751400-106752000	Active TSS	Primary B cells from peripheral blood	blood
48	chr12:106751400-106752000	Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr12:106751400-106752000	Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr12:106751400-106752000	Active TSS	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links