Variant report

Variant	rs7297917
Chromosome Location	chr12:117488873-117488874
allele	G/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	chr12:117488694-117489730	GM12892	blood:	n/a	n/a
2	BHLHE40	chr12:117488807-117488899	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117486751..117489463-chr12:117503147..117505239,2	K562	blood:
2	chr12:117477087..117480724-chr12:117486826..117489814,3	MCF-7	breast:

Variant related genes	Relation type
TESC	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10744887	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10774895	0.86[JPT][hapmap]
rs10774899	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10850745	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10850746	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10850747	1.00[CEU][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10850751	0.96[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10850752	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068299	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068300	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068301	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11068306	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11611741	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11832441	0.84[EUR][1000 genomes]
rs11834817	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11837022	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12368876	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1472523	0.96[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2062528	0.96[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2173654	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2291911	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs2393124	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3782191	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3782192	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs4766825	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55969361	0.84[EUR][1000 genomes]
rs58470318	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59756806	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6490104	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6490105	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6490106	0.96[CEU][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6490107	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7294692	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7297303	0.91[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7953553	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7956481	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7960638	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7960731	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7964668	0.96[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7964686	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs7968761	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7968891	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7971795	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7972416	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7978810	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs9634171	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1804583	chr12:117472107-117525169	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117483600-117489200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:117483800-117498000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:117483800-117498200	Weak transcription	Brain Angular Gyrus	brain
4	chr12:117483800-117498200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:117484000-117490000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:117484000-117490800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:117484000-117493600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:117484400-117489400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:117484400-117489600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:117484400-117490200	Weak transcription	Fetal Brain Female	brain
11	chr12:117484400-117497800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:117484800-117498200	Weak transcription	Thymus	Thymus
13	chr12:117485800-117490600	Enhancers	K562	blood
14	chr12:117486400-117489400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:117486400-117490200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:117486600-117489000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:117486600-117489000	Weak transcription	Fetal Intestine Large	intestine
18	chr12:117486600-117489200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:117486600-117489400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:117486600-117490400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr12:117486600-117491000	Weak transcription	Stomach Mucosa	stomach
22	chr12:117486600-117500400	Weak transcription	Fetal Lung	lung
23	chr12:117486800-117489200	Weak transcription	Fetal Thymus	thymus
24	chr12:117486800-117490000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:117486800-117491800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr12:117486800-117498800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr12:117487000-117490200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:117487000-117490400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:117487000-117493400	Weak transcription	Lung	lung
30	chr12:117487200-117490200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:117487200-117490400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr12:117487200-117492000	Weak transcription	Gastric	stomach
33	chr12:117487200-117500400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:117487400-117489000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:117487400-117489800	Weak transcription	Right Ventricle	heart
36	chr12:117487400-117490200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:117487400-117490400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr12:117487400-117490600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr12:117487400-117491000	Weak transcription	Dnd41	blood
40	chr12:117487400-117491400	Weak transcription	Spleen	Spleen
41	chr12:117487400-117494200	Weak transcription	A549	lung
42	chr12:117487400-117497000	Weak transcription	Ovary	ovary
43	chr12:117487600-117489000	Enhancers	Fetal Brain Male	brain
44	chr12:117488000-117489200	Flanking Active TSS	Fetal Heart	heart
45	chr12:117488200-117491200	Weak transcription	HepG2	liver
46	chr12:117488200-117491400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr12:117488200-117491600	Enhancers	Pancreas	Pancrea
48	chr12:117488400-117489800	Weak transcription	Brain Germinal Matrix	brain
49	chr12:117488400-117490000	Enhancers	Fetal Intestine Small	intestine
50	chr12:117488400-117490600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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