Variant report

Variant	rs685019
Chromosome Location	chr12:121570476-121570477
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	PBX3	chr12:121570397-121571064	SK-N-SH	brain:	n/a	n/a
2	MXI1	chr12:121570457-121571300	GM12878	blood:	n/a	n/a
3	MYC	chr12:121570378-121570956	K562	blood:	n/a	chr12:121570587-121570597
4	JUND	chr12:121570469-121570662	H1-hESC	embryonic stem cell:	n/a	n/a
5	USF1	chr12:121570428-121570692	SK-N-SH_RA	brain:	n/a	n/a
6	JUN	chr12:121569328-121571628	K562	blood:	n/a	chr12:121571251-121571261 chr12:121571252-121571260 chr12:121571251-121571261 chr12:121571251-121571261 chr12:121571251-121571261
7	SIN3A	chr12:121570459-121571238	H1-hESC	embryonic stem cell:	n/a	chr12:121571025-121571036
8	JUND	chr12:121570338-121571006	K562	blood:	n/a	n/a
9	POLR2A	chr12:121570451-121571321	U87	brain:	n/a	n/a
10	MAX	chr12:121570403-121571402	H1-hESC	embryonic stem cell:	n/a	chr12:121570587-121570597
11	TCF12	chr12:121570214-121571528	SK-N-SH	brain:	n/a	chr12:121570523-121570533 chr12:121570525-121570532 chr12:121571024-121571031
12	SIN3AK20	chr12:121570368-121571418	SK-N-SH	brain:	n/a	n/a
13	MAX	chr12:121570427-121570988	K562	blood:	n/a	chr12:121570587-121570597
14	MAX	chr12:121570433-121571351	NB4	blood:	n/a	chr12:121570587-121570597
15	STAT1	chr12:121570357-121571020	GM12878	blood:	n/a	n/a
16	MAX	chr12:121570346-121571425	SK-N-SH	brain:	n/a	chr12:121570587-121570597
17	JUND	chr12:121570351-121570763	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr12:121570421-121571098	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr12:121570388-121570870	SK-N-SH	brain:	n/a	n/a
20	MAX	chr12:121570372-121571422	SK-N-SH	brain:	n/a	chr12:121570587-121570597
21	EBF1	chr12:121570262-121571404	GM12878	blood:	n/a	chr12:121571199-121571208 chr12:121571197-121571208 chr12:121571199-121571208
22	POLR2A	chr12:121570417-121571282	GM18526	blood:	n/a	n/a
23	RCOR1	chr12:121570463-121570773	K562	blood:	n/a	n/a
24	MAX	chr12:121570395-121570754	K562	blood:	n/a	chr12:121570587-121570597
25	EBF1	chr12:121570330-121570736	GM12878	blood:	n/a	n/a
26	MXI1	chr12:121570117-121571593	SK-N-SH	brain:	n/a	n/a
27	ELF1	chr12:121570411-121570815	GM12878	blood:	n/a	n/a
28	EBF1	chr12:121570284-121570610	GM12878	blood:	n/a	n/a
29	BHLHE40	chr12:121570424-121571320	GM12878	blood:	n/a	n/a
30	TBL1XR1	chr12:121570461-121570689	GM12878	blood:	n/a	n/a
31	ATF1	chr12:121570380-121570704	K562	blood:	n/a	n/a
32	MAX	chr12:121570407-121571452	ECC-1	luminal epithelium:	n/a	chr12:121570587-121570597
33	PBX3	chr12:121570340-121571345	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121569906..121572539-chr12:121647803..121649868,2	MCF-7	breast:
2	chr12:121569648..121570492-chr12:121613509..121614358,5	MCF-7	breast:

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

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11065434	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065442	0.99[ASN][1000 genomes]
rs1180011	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1180012	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1180015	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1183296	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1185268	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs169631	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs169632	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs169633	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1794897	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1796422	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs183283	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs189989	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs208277	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs208280	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs208284	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs208287	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs208290	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs208293	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2263271	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2393799	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2686352	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs500930	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs501167	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs523977	0.83[AMR][1000 genomes]
rs570984	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs575572	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs582315	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs591874	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636719	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs656612	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs665794	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs671684	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs676262	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7309886	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121562400-121570600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:121564200-121570600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:121565800-121570600	Enhancers	Placenta	Placenta
4	chr12:121567600-121570600	Enhancers	Primary hematopoietic stem cells	blood
5	chr12:121567600-121570600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:121567600-121570600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:121567800-121570600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr12:121567800-121570600	Weak transcription	Left Ventricle	heart
9	chr12:121568600-121570600	Weak transcription	Lung	lung
10	chr12:121569200-121570600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr12:121569400-121570600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:121569400-121570800	Enhancers	K562	blood
13	chr12:121569600-121570800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:121569800-121570600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:121569800-121570600	Enhancers	Fetal Intestine Small	intestine
16	chr12:121569800-121570600	Enhancers	NHEK	skin
17	chr12:121569800-121571400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:121570000-121570600	Enhancers	Primary B cells from cord blood	blood
19	chr12:121570000-121570600	Flanking Active TSS	Brain Substantia Nigra	brain
20	chr12:121570000-121571400	Active TSS	Brain Anterior Caudate	brain
21	chr12:121570200-121570600	Enhancers	Primary B cells from peripheral blood	blood
22	chr12:121570200-121570600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr12:121570200-121570600	Enhancers	Fetal Heart	heart
24	chr12:121570200-121570600	Enhancers	Fetal Thymus	thymus
25	chr12:121570200-121570600	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr12:121570200-121570600	Enhancers	Spleen	Spleen
27	chr12:121570200-121570600	Enhancers	GM12878-XiMat	blood
28	chr12:121570200-121570600	Enhancers	HUVEC	blood vessel
29	chr12:121570200-121571600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:121570200-121571600	Enhancers	Small Intestine	intestine
31	chr12:121570200-121571800	Active TSS	Brain Hippocampus Middle	brain
32	chr12:121570200-121573000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr12:121570400-121570600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr12:121570400-121570600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:121570400-121570600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr12:121570400-121570600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:121570400-121570600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr12:121570400-121570600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:121570400-121570600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:121570400-121570600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:121570400-121570600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:121570400-121570600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:121570400-121570600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr12:121570400-121570600	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr12:121570400-121570600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:121570400-121570600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:121570400-121570600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:121570400-121570600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:121570400-121570600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr12:121570400-121570600	Flanking Active TSS	Colonic Mucosa	Colon

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