Variant report

Variant	rs2396583
Chromosome Location	chr7:112522196-112522197
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10243834	0.90[ASN][1000 genomes]
rs10249952	0.87[ASN][1000 genomes]
rs10272143	0.90[ASN][1000 genomes]
rs10275208	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10280618	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10280825	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1044262	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11762737	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11768408	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11768787	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11769037	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1530756	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17160078	0.87[ASN][1000 genomes]
rs17405723	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1976897	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1992988	0.83[ASN][1000 genomes]
rs2396570	0.85[EUR][1000 genomes]
rs56012709	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62472536	0.86[ASN][1000 genomes]
rs62491096	0.80[EUR][1000 genomes]
rs62491097	0.83[ASN][1000 genomes]
rs62491099	0.83[ASN][1000 genomes]
rs6466423	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944843	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7781871	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7808616	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2754368	chr7:112483049-112588049	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112468600-112550000	Weak transcription	Aorta	Aorta
2	chr7:112469800-112529000	Weak transcription	Brain Anterior Caudate	brain
3	chr7:112470800-112533200	Weak transcription	HSMM	muscle
4	chr7:112471800-112545200	Weak transcription	Ovary	ovary
5	chr7:112472000-112524600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:112472600-112533200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:112490800-112533000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:112494200-112532400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr7:112496200-112533400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:112506800-112533000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:112507400-112556800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:112507800-112529800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:112509400-112523400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:112509400-112532400	Weak transcription	Dnd41	blood
15	chr7:112510600-112525600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:112511400-112524600	Weak transcription	Brain Germinal Matrix	brain
17	chr7:112512800-112533400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr7:112513800-112526200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:112513800-112533200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:112515200-112534000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr7:112515400-112533000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:112515400-112533400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:112515400-112551000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:112516000-112523000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:112516000-112533000	Weak transcription	Fetal Kidney	kidney
26	chr7:112516000-112533200	Weak transcription	Fetal Brain Male	brain
27	chr7:112516000-112537800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr7:112516400-112529600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:112516400-112551000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr7:112516600-112524800	Weak transcription	Fetal Brain Female	brain
31	chr7:112517200-112529800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:112517800-112529400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr7:112518000-112529800	Weak transcription	Placenta	Placenta
34	chr7:112518000-112533000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr7:112518000-112533400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr7:112518000-112534200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:112518200-112523600	Weak transcription	Primary T cells from cord blood	blood
38	chr7:112518600-112524400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:112518800-112533000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:112519000-112532800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:112519000-112557400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr7:112519200-112523000	Weak transcription	HUVEC	blood vessel
43	chr7:112519200-112532200	Weak transcription	Fetal Lung	lung
44	chr7:112519400-112533400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr7:112520200-112533200	Weak transcription	Osteobl	bone
46	chr7:112520400-112529800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:112520800-112522400	Enhancers	Fetal Muscle Leg	muscle
48	chr7:112520800-112522600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr7:112521000-112522200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:112521000-112522200	Strong transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links