Variant report

Variant	rs9691471
Chromosome Location	chr7:64446245-64446246
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:64444227..64448944-chr7:64454990..64458661,5	K562	blood:
2	chr7:64443258..64447398-chr7:64464818..64467453,4	MCF-7	breast:
3	chr7:64443801..64446624-chr7:64455450..64458342,2	K562	blood:

Variant related genes	Relation type
ENSG00000152926	Chromatin interaction
ENSG00000213462	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10240996	0.86[ASN][1000 genomes]
rs10278052	0.85[ASN][1000 genomes]
rs1060382	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10807685	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11972247	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11978819	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs13222878	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs13229671	0.86[ASN][1000 genomes]
rs13229816	0.86[ASN][1000 genomes]
rs13230970	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1404453	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1608713	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1608716	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1608717	0.86[ASN][1000 genomes]
rs1852015	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1970879	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2177660	0.86[ASN][1000 genomes]
rs34216774	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3807070	0.86[ASN][1000 genomes]
rs4607487	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4618579	0.86[ASN][1000 genomes]
rs4717229	0.86[ASN][1000 genomes]
rs4718173	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4718174	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs55872770	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs62455588	0.86[ASN][1000 genomes]
rs62455631	0.86[ASN][1000 genomes]
rs62455632	0.86[ASN][1000 genomes]
rs62455636	0.86[ASN][1000 genomes]
rs62455639	0.86[ASN][1000 genomes]
rs62455642	0.86[ASN][1000 genomes]
rs62455644	0.86[ASN][1000 genomes]
rs62456466	0.86[ASN][1000 genomes]
rs62456467	0.86[ASN][1000 genomes]
rs62456468	0.86[ASN][1000 genomes]
rs62456469	0.86[ASN][1000 genomes]
rs62456470	0.86[ASN][1000 genomes]
rs62456471	0.83[ASN][1000 genomes]
rs62456474	0.83[ASN][1000 genomes]
rs62456475	0.83[ASN][1000 genomes]
rs62456476	0.86[ASN][1000 genomes]
rs62456478	0.86[ASN][1000 genomes]
rs62456480	0.88[ASN][1000 genomes]
rs62456482	0.83[ASN][1000 genomes]
rs6460215	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6460218	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6460219	0.86[ASN][1000 genomes]
rs6944240	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7784273	0.86[ASN][1000 genomes]
rs7790578	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7796144	0.86[ASN][1000 genomes]
rs7799463	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7810102	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7810372	0.81[ASN][1000 genomes]
rs7812013	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs9638412	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv888282	chr7:64299645-64511564	Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	esv3506582	chr7:64323055-64563984	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	esv3506583	chr7:64323055-64563984	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv1019180	chr7:64329889-64512842	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv888283	chr7:64343985-64511564	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	esv2752165	chr7:64345822-65208605	Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
13	nsv888284	chr7:64406439-64562139	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
14	nsv970505	chr7:64441807-64494987	ZNF genes & repeats Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv1033517	chr7:64443052-64942418	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
16	nsv538893	chr7:64443052-64942418	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64431800-64448000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:64433400-64465600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:64436400-64447600	ZNF genes & repeats	Brain Germinal Matrix	brain
4	chr7:64436400-64454200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:64436800-64454200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr7:64437000-64449600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr7:64437400-64447000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:64437400-64447400	ZNF genes & repeats	Primary B cells from cord blood	blood
9	chr7:64438200-64447000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:64438600-64448200	Strong transcription	Placenta	Placenta
11	chr7:64438600-64465200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:64438800-64447400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr7:64438800-64454400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:64440200-64457600	Weak transcription	Pancreas	Pancrea
15	chr7:64440600-64452000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:64441600-64450200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr7:64441800-64450600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:64441800-64450600	Weak transcription	Brain Substantia Nigra	brain
19	chr7:64441800-64453200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:64441800-64456800	Weak transcription	Fetal Heart	heart
21	chr7:64441800-64459400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:64441800-64465000	Weak transcription	Brain Angular Gyrus	brain
23	chr7:64442000-64446800	Weak transcription	HUVEC	blood vessel
24	chr7:64442000-64452800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:64442000-64453600	Weak transcription	Fetal Kidney	kidney
26	chr7:64442000-64457600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:64442600-64453200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr7:64442600-64453600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:64442800-64448800	Weak transcription	Brain Anterior Caudate	brain
30	chr7:64443000-64449000	Weak transcription	Brain Hippocampus Middle	brain
31	chr7:64443000-64452200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr7:64443800-64446400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
33	chr7:64443800-64446600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:64443800-64457200	Weak transcription	Right Ventricle	heart
35	chr7:64444000-64446800	ZNF genes & repeats	Dnd41	blood
36	chr7:64444000-64448400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:64444200-64447600	Strong transcription	HSMM	muscle
38	chr7:64444200-64454200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr7:64444400-64446800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:64444400-64447800	Weak transcription	HepG2	liver
41	chr7:64444600-64446400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:64444600-64450400	Weak transcription	HSMMtube	muscle
43	chr7:64444800-64450200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:64444800-64452400	Weak transcription	Ovary	ovary
45	chr7:64445000-64446600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:64445200-64446400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:64445200-64446400	ZNF genes & repeats	Fetal Intestine Small	intestine
48	chr7:64445400-64447800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
49	chr7:64445400-64448000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:64445400-64452000	Weak transcription	Esophagus	oesophagus

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