Variant report

Variant	rs2003119
Chromosome Location	chr7:78396496-78396497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10227551	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10235632	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10237620	0.89[EUR][1000 genomes]
rs10242552	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10250784	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10252524	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10264296	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1118935	0.82[EUR][1000 genomes]
rs11974493	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11980954	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13244373	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13246802	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1330494	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13308578	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1360302	0.89[EUR][1000 genomes]
rs1888238	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1888239	0.92[EUR][1000 genomes]
rs2214558	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6953482	0.82[EUR][1000 genomes]
rs6976884	0.82[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	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1019355	chr7:78319575-78399845	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv607657	chr7:78329795-78483211	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78386200-78397600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr7:78391800-78398800	Weak transcription	Pancreas	Pancrea
3	chr7:78394000-78396600	Enhancers	Psoas Muscle	Psoas
4	chr7:78394000-78397000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:78394400-78397400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:78394400-78397600	Weak transcription	Brain Angular Gyrus	brain
7	chr7:78394400-78397600	Weak transcription	Fetal Heart	heart
8	chr7:78394600-78396600	Weak transcription	Fetal Brain Female	brain
9	chr7:78395400-78396600	Enhancers	Fetal Brain Male	brain
10	chr7:78395400-78397800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:78395600-78398000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:78395600-78398200	Weak transcription	Aorta	Aorta
13	chr7:78395600-78398400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:78395800-78397000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:78395800-78397400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:78395800-78398000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:78395800-78398200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:78396000-78397400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:78396000-78397600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:78396000-78397800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:78396000-78398000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr7:78396200-78397400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:78396200-78397400	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:78396200-78397400	Weak transcription	Brain Substantia Nigra	brain
25	chr7:78396200-78397800	Weak transcription	Brain Anterior Caudate	brain
26	chr7:78396200-78398000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:78396200-78398400	Weak transcription	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links