Variant report

Variant	rs684201
Chromosome Location	chr12:121570343-121570344
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	JUN	chr12:121569328-121571628	K562	blood:	n/a	chr12:121571251-121571261 chr12:121571252-121571260 chr12:121571251-121571261 chr12:121571251-121571261 chr12:121571251-121571261
2	JUND	chr12:121570338-121571006	K562	blood:	n/a	n/a
3	TCF12	chr12:121570214-121571528	SK-N-SH	brain:	n/a	chr12:121570523-121570533 chr12:121570525-121570532 chr12:121571024-121571031
4	EBF1	chr12:121570262-121571404	GM12878	blood:	n/a	chr12:121571199-121571208 chr12:121571197-121571208 chr12:121571199-121571208
5	EBF1	chr12:121570330-121570736	GM12878	blood:	n/a	n/a
6	MXI1	chr12:121570117-121571593	SK-N-SH	brain:	n/a	n/a
7	EBF1	chr12:121570284-121570610	GM12878	blood:	n/a	n/a
8	GATA3	chr12:121569512-121570382	MCF-7	breast:	n/a	chr12:121569900-121569908
9	PBX3	chr12:121570340-121571345	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:121569636..121570366-chr12:121640682..121641273,2	MCF-7	breast:
2	chr12:121569906..121572539-chr12:121647803..121649868,2	MCF-7	breast:
3	chr12:121569648..121570492-chr12:121613509..121614358,5	MCF-7	breast:
4	chr12:121569656..121570427-chr12:121608922..121609716,2	MCF-7	breast:

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

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10849843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10849845	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849846	0.96[ASN][1000 genomes]
rs10849848	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849849	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849850	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10849851	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065428	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065433	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065435	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065436	0.96[ASN][1000 genomes]
rs11065437	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065440	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065441	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065445	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11065450	0.83[CHB][hapmap]
rs11065453	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065458	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs208292	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2393800	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3861798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3891262	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3900976	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077055	0.96[ASN][1000 genomes]
rs4559762	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs520396	0.83[AFR][1000 genomes]
rs58717055	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6489794	0.94[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs7298521	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7302184	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7310821	1.00[CEU][hapmap];0.95[ASN][1000 genomes]
rs7313004	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7314706	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7954687	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[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:86 , 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	chr12:121562800-121570400	Weak transcription	Ovary	ovary
3	chr12:121564200-121570600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:121565800-121570600	Enhancers	Placenta	Placenta
5	chr12:121566800-121570400	Weak transcription	Gastric	stomach
6	chr12:121567200-121570400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:121567200-121570400	Weak transcription	Fetal Lung	lung
8	chr12:121567200-121570400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:121567200-121570400	Weak transcription	HMEC	breast
10	chr12:121567400-121570400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:121567400-121570400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:121567400-121570400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:121567600-121570400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:121567600-121570400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr12:121567600-121570400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:121567600-121570400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr12:121567600-121570400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr12:121567600-121570400	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr12:121567600-121570400	Weak transcription	Psoas Muscle	Psoas
20	chr12:121567600-121570400	Weak transcription	Right Atrium	heart
21	chr12:121567600-121570400	Weak transcription	Right Ventricle	heart
22	chr12:121567600-121570400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:121567600-121570400	Weak transcription	Stomach Mucosa	stomach
24	chr12:121567600-121570400	Weak transcription	NHDF-Ad	bronchial
25	chr12:121567600-121570600	Enhancers	Primary hematopoietic stem cells	blood
26	chr12:121567600-121570600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:121567600-121570600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:121567800-121570400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr12:121567800-121570400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr12:121567800-121570400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:121567800-121570400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:121567800-121570400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:121567800-121570400	Weak transcription	Fetal Muscle Leg	muscle
34	chr12:121567800-121570400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:121567800-121570400	Weak transcription	Thymus	Thymus
36	chr12:121567800-121570400	Weak transcription	Dnd41	blood
37	chr12:121567800-121570600	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr12:121567800-121570600	Weak transcription	Left Ventricle	heart
39	chr12:121568000-121570400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:121568200-121570400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr12:121568400-121570400	Weak transcription	Primary T cells from cord blood	blood
42	chr12:121568400-121570400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:121568600-121570400	Weak transcription	Colonic Mucosa	Colon
44	chr12:121568600-121570600	Weak transcription	Lung	lung
45	chr12:121568800-121570400	Enhancers	HepG2	liver
46	chr12:121569000-121570400	Enhancers	Liver	Liver
47	chr12:121569000-121570400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:121569200-121570600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr12:121569400-121570600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:121569400-121570800	Enhancers	K562	blood

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