Variant report

Variant	rs7487238
Chromosome Location	chr12:9570971-9570972
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	NFIC	chr12:9570781-9571238	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr12:9570970-9571299	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:9570335-9570974	H1-hESC	embryonic stem cell:	n/a	n/a
4	HEY1	chr12:9570914-9571429	HepG2	liver:	n/a	n/a
5	HEY1	chr12:9570970-9571383	HepG2	liver:	n/a	n/a
6	FOSL2	chr12:9570963-9571293	HepG2	liver:	n/a	n/a
7	FOXA1	chr12:9570909-9571427	HepG2	liver:	n/a	n/a
8	ZBTB33	chr12:9570921-9571291	HepG2	liver:	n/a	n/a
9	POLR2A	chr12:9570953-9571395	HepG2	liver:	n/a	n/a
10	POLR2A	chr12:9570908-9571211	HepG2	liver:	n/a	n/a
11	SP1	chr12:9570909-9571520	HepG2	liver:	n/a	n/a
12	RXRA	chr12:9570853-9571537	HepG2	liver:	n/a	n/a
13	RXRA	chr12:9570951-9571371	HepG2	liver:	n/a	n/a
14	FOSL2	chr12:9570908-9571436	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000256673	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10843716	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10843720	0.82[ASN][1000 genomes]
rs4763341	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4763936	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4764447	0.80[AMR][1000 genomes]
rs6487908	0.86[ASN][1000 genomes]
rs73242993	0.92[ASN][1000 genomes]
rs7487842	0.80[ASN][1000 genomes]
rs7955974	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	nsv916832	chr12:9397450-9693952	ZNF genes & repeats Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv1050161	chr12:9436635-9685768	Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1035958	chr12:9472365-9579109	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv898744	chr12:9518222-9668380	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv898745	chr12:9529015-9716126	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	esv1825533	chr12:9541542-9736409	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv508665	chr12:9546233-9601755	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv2568009	chr12:9550935-9731598	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv557357	chr12:9551375-9726469	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	esv1803766	chr12:9555110-9650458	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv557362	chr12:9555110-9720235	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv557367	chr12:9555375-9617083	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv557368	chr12:9555375-9658741	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	esv1841111	chr12:9555375-9720235	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv557369	chr12:9555375-9720235	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	esv1839054	chr12:9555375-9726469	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	esv1840300	chr12:9555375-9730427	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	esv1836556	chr12:9555805-9714330	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	esv1835576	chr12:9555805-9720235	ZNF genes & repeats Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	nsv557379	chr12:9556034-9730427	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
24	nsv557383	chr12:9556263-9720235	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
25	nsv557385	chr12:9556721-9577310	Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
26	nsv557386	chr12:9556935-9720235	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
27	nsv557387	chr12:9557465-9621533	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
28	esv1834422	chr12:9557465-9716126	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
29	esv1840809	chr12:9557465-9726469	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
30	nsv557389	chr12:9557655-9714330	Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
31	nsv557390	chr12:9558318-9687201	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
32	nsv557391	chr12:9558318-9714330	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
33	nsv557392	chr12:9558318-9720235	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
34	nsv557393	chr12:9558318-9726469	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
35	nsv557394	chr12:9558586-9714330	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
36	nsv557395	chr12:9558745-9720235	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
37	esv1821732	chr12:9560087-9830668	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
38	esv1823760	chr12:9560087-9830668	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
39	nsv428271	chr12:9560087-9830668	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
40	esv1809000	chr12:9562113-9580677	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
41	esv1833598	chr12:9562714-9738070	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
42	nsv8907	chr12:9564662-9575213	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9544800-9593200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:9545400-9573800	Weak transcription	Fetal Intestine Small	intestine
3	chr12:9545400-9575600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:9557600-9572200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:9557800-9571400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:9559200-9571000	Weak transcription	Thymus	Thymus
7	chr12:9559200-9599600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:9559600-9576600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:9559800-9572000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:9559800-9573800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:9559800-9574000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:9559800-9577800	Weak transcription	A549	lung
13	chr12:9560000-9572000	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:9560000-9576400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:9560000-9584000	Weak transcription	Right Ventricle	heart
16	chr12:9560000-9599800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:9560200-9599600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:9560400-9599600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:9560400-9599600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:9564200-9584600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:9564800-9573800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:9564800-9578000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:9564800-9586000	Weak transcription	Fetal Lung	lung
24	chr12:9565000-9571000	Weak transcription	Dnd41	blood
25	chr12:9565000-9573600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:9565000-9573800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:9565000-9599800	Weak transcription	Esophagus	oesophagus
28	chr12:9566200-9575000	Weak transcription	GM12878-XiMat	blood
29	chr12:9566200-9577200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr12:9566800-9572400	Weak transcription	Fetal Thymus	thymus
31	chr12:9566800-9580600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:9566800-9580600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr12:9566800-9592600	Weak transcription	Pancreas	Pancrea
34	chr12:9567000-9572200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:9567000-9573000	Weak transcription	Lung	lung
36	chr12:9567000-9587000	Weak transcription	Primary T cells from cord blood	blood
37	chr12:9567000-9599400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr12:9567000-9599400	Weak transcription	HepG2	liver
39	chr12:9567000-9599600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr12:9567000-9599800	Weak transcription	Spleen	Spleen
41	chr12:9567200-9571600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr12:9567200-9573800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:9567200-9599800	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr12:9568200-9571400	Enhancers	Fetal Muscle Trunk	muscle
45	chr12:9569200-9592200	Weak transcription	Adipose Nuclei	Adipose
46	chr12:9569400-9576000	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr12:9569400-9599800	Weak transcription	Gastric	stomach
48	chr12:9569600-9571400	Strong transcription	Fetal Stomach	stomach
49	chr12:9570400-9591600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:9570600-9571600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland

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