Variant report

Variant	rs56694862
Chromosome Location	chr7:97897120-97897121
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97896517..97899064-chr7:97911337..97914129,2	MCF-7	breast:
2	chr7:97896353..97898168-chr7:97898511..97900531,2	K562	blood:

Variant related genes	Relation type
ENSG00000164713	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11982193	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17169479	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58477839	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58699591	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59597713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6967728	0.81[ASN][1000 genomes]
rs73709460	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777991	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[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	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1033029	chr7:97773232-98017992	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv539033	chr7:97773232-98017992	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv888760	chr7:97816327-97965016	Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv831067	chr7:97860169-98065528	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	nsv1026477	chr7:97869446-98034129	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97886600-97909800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr7:97886800-97909200	Weak transcription	Brain Substantia Nigra	brain
3	chr7:97886800-97910000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr7:97887200-97910000	Weak transcription	Right Ventricle	heart
5	chr7:97887400-97897200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:97887400-97897200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:97887400-97900800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:97887400-97908000	Weak transcription	Gastric	stomach
9	chr7:97887400-97910000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:97887600-97905800	Weak transcription	Left Ventricle	heart
11	chr7:97887600-97909600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:97888000-97908000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:97890600-97899800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr7:97891000-97898400	Weak transcription	Fetal Intestine Large	intestine
15	chr7:97891000-97899600	Weak transcription	Brain Anterior Caudate	brain
16	chr7:97891000-97905200	Weak transcription	Liver	Liver
17	chr7:97891000-97909800	Weak transcription	Brain Hippocampus Middle	brain
18	chr7:97891000-97909800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:97891200-97898000	Weak transcription	Esophagus	oesophagus
20	chr7:97891200-97903200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr7:97891200-97909600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:97891200-97909800	Weak transcription	Aorta	Aorta
23	chr7:97891200-97909800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:97891400-97901200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:97891400-97901200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:97891400-97903000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr7:97891400-97905800	Weak transcription	Pancreas	Pancrea
28	chr7:97891400-97909600	Weak transcription	Primary B cells from cord blood	blood
29	chr7:97891400-97909800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr7:97892000-97899600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:97892000-97900800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr7:97892000-97901400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr7:97892000-97903000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr7:97892000-97909600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr7:97892000-97909800	Weak transcription	Spleen	Spleen
36	chr7:97892600-97909600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:97893200-97897400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:97893400-97905800	Weak transcription	Fetal Intestine Small	intestine
39	chr7:97893400-97909200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr7:97893600-97898000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:97894000-97899600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:97894600-97905800	Weak transcription	Lung	lung
43	chr7:97894800-97905800	Weak transcription	Fetal Stomach	stomach
44	chr7:97895600-97899400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr7:97895600-97907800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:97895600-97910000	Weak transcription	HSMM	muscle
47	chr7:97895800-97898200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr7:97895800-97909800	Weak transcription	Primary T cells from cord blood	blood
49	chr7:97895800-97910000	Weak transcription	Osteobl	bone
50	chr7:97896600-97897200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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