Variant report

Variant	rs11976488
Chromosome Location	chr7:83819515-83819516
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11971838	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11973201	1.00[YRI][hapmap]
rs11981143	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11982456	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12234403	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs28631483	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58513095	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61194772	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73709587	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73709588	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73709589	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73709590	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73709592	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73709595	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73709602	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73712705	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9642176	0.90[CHB][hapmap];0.87[CHD][hapmap];0.83[ASN][1000 genomes]
rs9642177	1.00[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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83792200-83820600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr7:83803400-83821800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:83803800-83820600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:83812000-83819600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:83814000-83823200	Weak transcription	Brain Substantia Nigra	brain
6	chr7:83814200-83823200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:83814400-83823800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:83816200-83819600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:83816200-83820600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:83816200-83821000	Enhancers	A549	lung
11	chr7:83816400-83819600	Weak transcription	Fetal Brain Male	brain
12	chr7:83816400-83823600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr7:83816600-83819600	Enhancers	NHLF	lung
14	chr7:83816800-83823600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr7:83817000-83820600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:83817400-83819800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:83817600-83820600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:83817600-83820600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:83817600-83821200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:83817600-83821200	Weak transcription	Fetal Kidney	kidney
21	chr7:83817800-83820600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:83817800-83820600	Weak transcription	Brain Anterior Caudate	brain
23	chr7:83817800-83820800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr7:83817800-83823200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:83818000-83823200	Weak transcription	HUVEC	blood vessel
26	chr7:83818200-83821200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:83818200-83821200	Weak transcription	NHEK	skin
28	chr7:83818200-83821600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:83818400-83819800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:83818400-83819800	Weak transcription	Fetal Brain Female	brain
31	chr7:83818400-83820600	Weak transcription	Fetal Stomach	stomach
32	chr7:83818400-83821200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:83818400-83823600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:83818600-83819600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:83818600-83820600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:83818600-83820600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr7:83818600-83821000	Weak transcription	Fetal Heart	heart
38	chr7:83818600-83821200	Weak transcription	Primary T cells from cord blood	blood
39	chr7:83818600-83821200	Weak transcription	Hela-S3	cervix
40	chr7:83818600-83821400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr7:83818600-83823200	Weak transcription	Adipose Nuclei	Adipose
42	chr7:83818800-83820600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr7:83818800-83821800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:83819000-83820600	Weak transcription	Colon Smooth Muscle	Colon
45	chr7:83819200-83819600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:83819200-83819800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr7:83819200-83821200	Enhancers	HMEC	breast
48	chr7:83819200-83821200	Enhancers	Osteobl	bone
49	chr7:83819400-83819600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:83819400-83819600	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links