Variant report

Variant	rs9691194
Chromosome Location	chr7:107263333-107263334
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107261454..107263851-chr7:107267426..107269612,2	K562	blood:
2	chr7:107232356..107233858-chr7:107262506..107264853,2	K562	blood:
3	chr7:107261469..107264518-chr7:107270573..107273343,3	K562	blood:
4	chr7:107262077..107263608-chr7:107265529..107267087,2	K562	blood:
5	chr7:107259157..107261520-chr7:107262490..107264922,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250474	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2023685	1.00[LWK][hapmap]
rs62483728	0.89[EUR][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	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1028571	chr7:107114479-107299723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539053	chr7:107114479-107299723	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv482365	chr7:107122401-107271861	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107221200-107272000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:107221400-107272400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:107221400-107276000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:107227800-107265400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:107235200-107271800	Weak transcription	Small Intestine	intestine
6	chr7:107235800-107268200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:107236000-107270800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:107238000-107272000	Weak transcription	Esophagus	oesophagus
9	chr7:107254600-107264400	Weak transcription	HSMMtube	muscle
10	chr7:107255200-107265000	Weak transcription	Hela-S3	cervix
11	chr7:107255400-107271600	Weak transcription	Pancreas	Pancrea
12	chr7:107255600-107271600	Weak transcription	Brain Substantia Nigra	brain
13	chr7:107255600-107272000	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:107255800-107263400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr7:107255800-107264800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:107255800-107266200	Weak transcription	Psoas Muscle	Psoas
17	chr7:107255800-107267400	Weak transcription	Fetal Thymus	thymus
18	chr7:107256200-107269600	Weak transcription	Brain Angular Gyrus	brain
19	chr7:107256400-107272800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr7:107256600-107264200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr7:107256800-107268800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:107256800-107269000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:107256800-107271600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:107256800-107278600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:107257000-107269200	Weak transcription	Brain Germinal Matrix	brain
26	chr7:107257400-107265000	Weak transcription	Thymus	Thymus
27	chr7:107257400-107265200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:107257400-107268600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr7:107257600-107266000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:107257800-107270600	Weak transcription	Brain Anterior Caudate	brain
31	chr7:107257800-107271000	Weak transcription	A549	lung
32	chr7:107258000-107263400	Weak transcription	Liver	Liver
33	chr7:107258200-107271800	Weak transcription	Fetal Brain Male	brain
34	chr7:107258800-107272800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:107259000-107266200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:107259400-107269000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:107260200-107264200	Strong transcription	Adipose Nuclei	Adipose
38	chr7:107260600-107263600	Strong transcription	Left Ventricle	heart
39	chr7:107260600-107263800	Strong transcription	Primary T cells from cord blood	blood
40	chr7:107260600-107263800	Strong transcription	Placenta	Placenta
41	chr7:107260800-107264200	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:107261000-107263600	Strong transcription	NHEK	skin
43	chr7:107261200-107263600	Strong transcription	Aorta	Aorta
44	chr7:107261200-107263600	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr7:107261200-107263800	Strong transcription	Dnd41	blood
46	chr7:107261200-107264200	Strong transcription	Fetal Stomach	stomach
47	chr7:107261400-107263600	Genic enhancers	HUVEC	blood vessel
48	chr7:107261400-107263800	Strong transcription	K562	blood
49	chr7:107261400-107264000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr7:107261600-107263400	Strong transcription	Fetal Heart	heart

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