Variant report

Variant	rs10256270
Chromosome Location	chr7:83821402-83821403
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1006795	0.86[ASN][1000 genomes]
rs10224865	0.84[ASN][1000 genomes]
rs12333631	0.88[ASN][1000 genomes]
rs1356804	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28397702	0.82[ASN][1000 genomes]
rs28884542	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58835109	0.84[ASN][1000 genomes]
rs6953184	0.83[ASN][1000 genomes]
rs6972377	0.83[ASN][1000 genomes]
rs6978737	0.86[ASN][1000 genomes]
rs73179383	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73179400	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73181306	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73181369	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73181375	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73181392	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73183125	0.80[EUR][1000 genomes]
rs73185111	0.84[ASN][1000 genomes]
rs73185120	0.86[ASN][1000 genomes]
rs73185127	0.81[ASN][1000 genomes]
rs73185135	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7804323	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7808707	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9642178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs977752	0.80[EUR][1000 genomes];0.86[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	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83803400-83821800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:83814000-83823200	Weak transcription	Brain Substantia Nigra	brain
3	chr7:83814200-83823200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:83814400-83823800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:83816400-83823600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr7:83816800-83823600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr7:83817800-83823200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:83818000-83823200	Weak transcription	HUVEC	blood vessel
9	chr7:83818200-83821600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:83818400-83823600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:83818600-83823200	Weak transcription	Adipose Nuclei	Adipose
12	chr7:83818800-83821800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:83819400-83825800	Active TSS	Stomach Smooth Muscle	stomach
14	chr7:83819400-83826000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:83819600-83824800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:83819600-83826000	Active TSS	NHLF	lung
17	chr7:83819800-83823200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:83820000-83825800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:83820400-83821600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr7:83820600-83821600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr7:83820600-83821800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr7:83820600-83822000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:83820600-83822000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:83820600-83823800	Active TSS	Brain Anterior Caudate	brain
25	chr7:83820600-83824600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:83820600-83825600	Active TSS	Fetal Intestine Large	intestine
27	chr7:83820600-83825800	Active TSS	Fetal Stomach	stomach
28	chr7:83820600-83826000	Active TSS	Colon Smooth Muscle	Colon
29	chr7:83820600-83826000	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr7:83820600-83826000	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr7:83820800-83824600	Active TSS	Fetal Brain Female	brain
32	chr7:83820800-83825000	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr7:83820800-83825600	Active TSS	Fetal Muscle Leg	muscle
34	chr7:83820800-83826000	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr7:83820800-83826000	Active TSS	Rectal Smooth Muscle	rectum
36	chr7:83820800-83826200	Active TSS	NHDF-Ad	bronchial
37	chr7:83821000-83821600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr7:83821000-83821600	Enhancers	Fetal Heart	heart
39	chr7:83821000-83821600	Active TSS	Fetal Intestine Small	intestine
40	chr7:83821000-83821800	Flanking Active TSS	A549	lung
41	chr7:83821000-83824600	Active TSS	NH-A	brain
42	chr7:83821000-83824800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:83821000-83825600	Active TSS	Brain Germinal Matrix	brain
44	chr7:83821000-83826000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:83821000-83826200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:83821200-83821600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr7:83821200-83821600	Flanking Active TSS	Fetal Brain Male	brain
48	chr7:83821200-83821800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr7:83821200-83821800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:83821200-83821800	Flanking Active TSS	Fetal Lung	lung

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