Variant report

Variant	rs7310821
Chromosome Location	chr12:121567185-121567186
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	POLR2A	chr12:121566661-121567331	HL-60	blood:	n/a	n/a
2	RCOR1	chr12:121567043-121567243	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:121566675-121567241	GM19193	blood:	n/a	n/a
4	ATF1	chr12:121566717-121567709	K562	blood:	n/a	n/a
5	ZNF384	chr12:121566979-121567662	GM12878	blood:	n/a	n/a
6	RELA	chr12:121566818-121567517	GM19099	blood:	n/a	n/a
7	NFIC	chr12:121566544-121567682	GM12878	blood:	n/a	n/a
8	TBP	chr12:121566736-121567614	GM12878	blood:	n/a	n/a
9	NFYA	chr12:121566804-121567219	GM12878	blood:	n/a	chr12:121566925-121566939 chr12:121566925-121566943 chr12:121566895-121566913
10	MTA3	chr12:121566817-121567619	GM12878	blood:	n/a	n/a
11	MAX	chr12:121566738-121567339	A549	lung:	n/a	chr12:121567024-121567031 chr12:121567021-121567034 chr12:121566883-121566893 chr12:121567022-121567033 chr12:121567023-121567033 chr12:121567021-121567034 chr12:121567023-121567033 chr12:121567023-121567032 chr12:121567022-121567033 chr12:121567021-121567036 chr12:121567023-121567033 chr12:121567023-121567032 chr12:121567022-121567031
12	PML	chr12:121566665-121567520	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:121566629-121567237	PFSK-1	brain:	n/a	n/a
14	SP1	chr12:121566656-121567463	GM12878	blood:	n/a	chr12:121566882-121566894 chr12:121566883-121566892 chr12:121566882-121566893 chr12:121566883-121566893 chr12:121566828-121566839 chr12:121566883-121566893 chr12:121566882-121566894 chr12:121566884-121566893 chr12:121566883-121566897
15	WRNIP1	chr12:121566918-121567222	GM12878	blood:	n/a	n/a
16	NFATC1	chr12:121566807-121567395	GM12878	blood:	n/a	n/a
17	MAX	chr12:121566769-121567274	ECC-1	luminal epithelium:	n/a	chr12:121567024-121567031 chr12:121567021-121567034 chr12:121566883-121566893 chr12:121567022-121567033 chr12:121567023-121567033 chr12:121567021-121567034 chr12:121567023-121567033 chr12:121567023-121567032 chr12:121567022-121567033 chr12:121567021-121567036 chr12:121567023-121567033 chr12:121567023-121567032 chr12:121567022-121567031
18	MXI1	chr12:121566805-121567550	GM12878	blood:	n/a	chr12:121567024-121567033 chr12:121567022-121567031
19	TBL1XR1	chr12:121566876-121567619	K562	blood:	n/a	n/a
20	SP1	chr12:121566737-121567462	GM12878	blood:	n/a	chr12:121566882-121566894 chr12:121566883-121566892 chr12:121566882-121566893 chr12:121566883-121566893 chr12:121566828-121566839 chr12:121566883-121566893 chr12:121566882-121566894 chr12:121566884-121566893 chr12:121566883-121566897
21	ATF2	chr12:121566798-121567437	GM12878	blood:	n/a	n/a
22	NFATC1	chr12:121566917-121567465	GM12878	blood:	n/a	n/a
23	IRF3	chr12:121566823-121567332	GM12878	blood:	n/a	chr12:121566880-121566894
24	MAX	chr12:121566833-121567208	HUVEC	blood vessel:	n/a	chr12:121567024-121567031 chr12:121567021-121567034 chr12:121566883-121566893 chr12:121567022-121567033 chr12:121567023-121567033 chr12:121567021-121567034 chr12:121567023-121567033 chr12:121567023-121567032 chr12:121567022-121567033 chr12:121567021-121567036 chr12:121567023-121567033 chr12:121567023-121567032 chr12:121567022-121567031
25	ATF2	chr12:121566714-121567459	GM12878	blood:	n/a	n/a
26	POLR2A	chr12:121566665-121567222	Raji	blood:	n/a	n/a
27	MAX	chr12:121566833-121567212	HepG2	liver:	n/a	chr12:121567024-121567031 chr12:121567021-121567034 chr12:121566883-121566893 chr12:121567022-121567033 chr12:121567023-121567033 chr12:121567021-121567034 chr12:121567023-121567033 chr12:121567023-121567032 chr12:121567022-121567033 chr12:121567021-121567036 chr12:121567023-121567033 chr12:121567023-121567032 chr12:121567022-121567031
28	EP300	chr12:121566823-121567648	GM12878	blood:	n/a	n/a
29	POLR2A	chr12:121566622-121567194	U87	brain:	n/a	n/a
30	POU2F2	chr12:121566665-121567324	GM12878	blood:	n/a	n/a
31	ARID3A	chr12:121566791-121567654	K562	blood:	n/a	n/a
32	CHD1	chr12:121566682-121567577	GM12878	blood:	n/a	n/a
33	MEF2C	chr12:121566756-121567441	GM12878	blood:	n/a	chr12:121567155-121567166 chr12:121567151-121567172 chr12:121567149-121567170 chr12:121567332-121567353 chr12:121567149-121567170 chr12:121567151-121567172 chr12:121567156-121567165 chr12:121567153-121567168 chr12:121567149-121567170 chr12:121567153-121567169 chr12:121567152-121567168
34	CEBPB	chr12:121566698-121567528	GM12878	blood:	n/a	n/a
35	MAX	chr12:121566616-121567330	HepG2	liver:	n/a	chr12:121567024-121567031 chr12:121567021-121567034 chr12:121566883-121566893 chr12:121567022-121567033 chr12:121567023-121567033 chr12:121567021-121567034 chr12:121567023-121567033 chr12:121567023-121567032 chr12:121567022-121567033 chr12:121567021-121567036 chr12:121567023-121567033 chr12:121567023-121567032 chr12:121567022-121567031
36	MAFF	chr12:121566954-121567304	HepG2	liver:	n/a	n/a
37	MAX	chr12:121566807-121567568	GM12878	blood:	n/a	chr12:121567024-121567031 chr12:121567021-121567034 chr12:121566883-121566893 chr12:121567022-121567033 chr12:121567023-121567033 chr12:121567021-121567034 chr12:121567023-121567033 chr12:121567023-121567032 chr12:121567022-121567033 chr12:121567021-121567036 chr12:121567023-121567033 chr12:121567023-121567032 chr12:121567022-121567031
38	MAZ	chr12:121566647-121567387	K562	blood:	n/a	chr12:121567024-121567031 chr12:121567021-121567034 chr12:121566883-121566893 chr12:121567022-121567033 chr12:121567023-121567033 chr12:121567021-121567034 chr12:121567023-121567033 chr12:121567023-121567032 chr12:121567022-121567033 chr12:121567021-121567036 chr12:121567023-121567032 chr12:121567022-121567031
39	EP300	chr12:121566852-121567506	GM12878	blood:	n/a	n/a
40	POLR2A	chr12:121566613-121567501	GM12891	blood:	n/a	n/a
41	MEF2C	chr12:121566903-121567268	GM12878	blood:	n/a	chr12:121567155-121567166 chr12:121567151-121567172 chr12:121567149-121567170 chr12:121567149-121567170 chr12:121567151-121567172 chr12:121567156-121567165 chr12:121567153-121567168 chr12:121567149-121567170 chr12:121567153-121567169 chr12:121567152-121567168
42	MYC	chr12:121566768-121567594	K562	blood:	n/a	chr12:121567024-121567031 chr12:121567021-121567034 chr12:121566883-121566893 chr12:121567022-121567033 chr12:121567023-121567033 chr12:121567021-121567034 chr12:121567023-121567033 chr12:121567023-121567032 chr12:121567022-121567033 chr12:121567021-121567036 chr12:121567023-121567033 chr12:121567023-121567032 chr12:121567022-121567031
43	POLR2A	chr12:121566629-121567370	SK-N-MC	brain:	n/a	n/a
44	POLR2A	chr12:121566782-121567541	K562	blood:	n/a	n/a
45	POLR2A	chr12:121566575-121567272	GM12878	blood:	n/a	n/a
46	MYC	chr12:121566757-121567586	K562	blood:	n/a	chr12:121567024-121567031 chr12:121567021-121567034 chr12:121566883-121566893 chr12:121567022-121567033 chr12:121567023-121567033 chr12:121567021-121567034 chr12:121567023-121567033 chr12:121567023-121567032 chr12:121567022-121567033 chr12:121567021-121567036 chr12:121567023-121567033 chr12:121567023-121567032 chr12:121567022-121567031
47	MTA3	chr12:121566431-121567751	GM12878	blood:	n/a	n/a
48	POLR2A	chr12:121566630-121567262	HL-60	blood:	n/a	n/a
49	TEAD4	chr12:121566564-121567781	K562	blood:	n/a	n/a
50	EBF1	chr12:121566839-121567283	GM12878	blood:	n/a	chr12:121567167-121567178

No.	Distal block	Cell Line	Cell type
1	chr12:121566738..121568870-chr12:121570376..121572315,2	MCF-7	breast:
2	chr12:121564281..121567226-chr12:121569639..121571152,2	MCF-7	breast:
3	chr12:121562465..121564050-chr12:121566966..121568974,2	MCF-7	breast:
4	chr12:121566845..121568445-chr12:121570737..121572613,2	K562	blood:
5	chr12:121565478..121567856-chr12:121646838..121650208,3	K562	blood:
6	chr12:121550877..121553101-chr12:121566808..121569789,2	MCF-7	breast:
7	chr12:121559257..121561994-chr12:121565943..121568175,2	K562	blood:

Variant related genes	Relation type
P2RX7	TF binding region
ENSG00000089041	Chromatin interaction
ENSG00000135124	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10849843	1.00[CEU][hapmap];0.94[ASN][1000 genomes]
rs10849845	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849846	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849848	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849849	1.00[CEU][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10849850	1.00[CEU][hapmap];0.95[ASN][1000 genomes]
rs10849851	1.00[CEU][hapmap];0.94[ASN][1000 genomes]
rs11065428	0.90[ASN][1000 genomes]
rs11065433	0.95[ASN][1000 genomes]
rs11065435	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065436	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065437	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065440	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065441	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065443	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11065445	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065453	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065458	0.95[ASN][1000 genomes]
rs208292	1.00[CEU][hapmap];0.95[ASN][1000 genomes]
rs2393800	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3861798	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3891262	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3900976	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4077055	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4559762	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58717055	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6489794	0.95[ASN][1000 genomes]
rs684201	1.00[CEU][hapmap];0.95[ASN][1000 genomes]
rs7298521	0.86[CEU][hapmap];0.95[ASN][1000 genomes]
rs7302184	0.92[ASN][1000 genomes]
rs7313004	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7314706	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7954687	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv430537	chr12:121487632-121579955	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv899563	chr12:121543011-121600529	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121562400-121570600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:121562800-121569200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:121562800-121570400	Weak transcription	Ovary	ovary
4	chr12:121563000-121569400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:121564000-121567400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:121564000-121568600	Enhancers	Liver	Liver
7	chr12:121564200-121570600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:121565000-121567600	Enhancers	Right Atrium	heart
9	chr12:121565000-121567600	Enhancers	Stomach Mucosa	stomach
10	chr12:121565200-121569600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:121565400-121568400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr12:121565600-121567800	Enhancers	Spleen	Spleen
13	chr12:121565800-121567600	Enhancers	Right Ventricle	heart
14	chr12:121565800-121567800	Enhancers	Left Ventricle	heart
15	chr12:121565800-121568400	Enhancers	Fetal Thymus	thymus
16	chr12:121565800-121570600	Enhancers	Placenta	Placenta
17	chr12:121566000-121567200	Enhancers	Brain Substantia Nigra	brain
18	chr12:121566000-121567800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:121566000-121567800	Enhancers	Fetal Muscle Leg	muscle
20	chr12:121566000-121567800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr12:121566200-121567200	Enhancers	Fetal Muscle Trunk	muscle
22	chr12:121566200-121567600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr12:121566600-121567200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:121566600-121567200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr12:121566600-121567200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:121566600-121567200	Active TSS	Duodenum Mucosa	Duodenum
27	chr12:121566600-121567400	Active TSS	Brain Angular Gyrus	brain
28	chr12:121566600-121567400	Active TSS	Rectal Smooth Muscle	rectum
29	chr12:121566600-121567400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr12:121566600-121567400	Flanking Active TSS	K562	blood
31	chr12:121566600-121567600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr12:121566600-121567600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:121566600-121567600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:121566600-121567600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:121566600-121567600	Enhancers	NHDF-Ad	bronchial
36	chr12:121566600-121567800	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr12:121566600-121567800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr12:121566600-121567800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:121566600-121567800	Flanking Active TSS	Dnd41	blood
40	chr12:121566600-121567800	Flanking Active TSS	GM12878-XiMat	blood
41	chr12:121566600-121570200	Weak transcription	Small Intestine	intestine
42	chr12:121566800-121567200	Active TSS	Brain Anterior Caudate	brain
43	chr12:121566800-121567200	Enhancers	Brain Cingulate Gyrus	brain
44	chr12:121566800-121567200	Active TSS	Brain Hippocampus Middle	brain
45	chr12:121566800-121567200	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr12:121566800-121567200	Active TSS	Colon Smooth Muscle	Colon
47	chr12:121566800-121567200	Enhancers	Fetal Lung	lung
48	chr12:121566800-121567200	Enhancers	HMEC	breast
49	chr12:121566800-121567200	Active TSS	HSMMtube	muscle
50	chr12:121566800-121567200	Enhancers	NHEK	skin

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