Variant report

Variant	rs7608799
Chromosome Location	chr2:187387856-187387857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187386798..187388432-chr2:187393071..187395661,2	K562	blood:
2	chr2:187309177..187311666-chr2:187386026..187388228,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10469728	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12614328	0.84[ASN][1000 genomes]
rs13397032	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60010629	0.84[ASN][1000 genomes]
rs6434185	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6710788	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9288130	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh 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	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv459988	chr2:187364878-187440683	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv584031	chr2:187364878-187440683	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7608799	ITGAV	cis	Nerve Tibial	GTEx

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187361400-187389200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:187363000-187408800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:187363200-187397600	Weak transcription	Small Intestine	intestine
4	chr2:187367200-187396800	Weak transcription	Gastric	stomach
5	chr2:187367200-187405800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:187371000-187389400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:187371000-187395800	Weak transcription	Fetal Heart	heart
8	chr2:187371000-187407800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:187372200-187390000	Weak transcription	Fetal Brain Male	brain
10	chr2:187373600-187388000	Weak transcription	Psoas Muscle	Psoas
11	chr2:187373600-187395800	Weak transcription	HSMMtube	muscle
12	chr2:187373600-187397600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:187373800-187390200	Weak transcription	Brain Anterior Caudate	brain
14	chr2:187374000-187388600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:187374400-187389800	Weak transcription	Brain Germinal Matrix	brain
16	chr2:187374400-187396200	Weak transcription	Brain Substantia Nigra	brain
17	chr2:187374400-187398800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:187374800-187388400	Weak transcription	NHLF	lung
19	chr2:187377200-187397200	Weak transcription	HUVEC	blood vessel
20	chr2:187379000-187388000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr2:187379000-187397400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:187380400-187389200	Weak transcription	Fetal Lung	lung
23	chr2:187381800-187406600	Weak transcription	NHEK	skin
24	chr2:187383000-187397000	Weak transcription	K562	blood
25	chr2:187383400-187388600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:187383400-187397600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:187384200-187388200	Weak transcription	NHDF-Ad	bronchial
28	chr2:187384200-187397800	Weak transcription	A549	lung
29	chr2:187386200-187388000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:187386200-187388000	Weak transcription	Spleen	Spleen
31	chr2:187386200-187388200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:187386200-187388400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:187386200-187388400	Weak transcription	Left Ventricle	heart
34	chr2:187386200-187388400	Weak transcription	Ovary	ovary
35	chr2:187386200-187388600	Weak transcription	Aorta	Aorta
36	chr2:187386200-187392600	Weak transcription	Thymus	Thymus
37	chr2:187386200-187395800	Weak transcription	NH-A	brain
38	chr2:187386200-187397000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr2:187386200-187397400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:187386200-187398400	Weak transcription	Liver	Liver
41	chr2:187386200-187405200	Weak transcription	HSMM	muscle
42	chr2:187386200-187408000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:187386400-187388000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:187386400-187388200	Weak transcription	Osteobl	bone
45	chr2:187386400-187390200	Weak transcription	Fetal Intestine Large	intestine
46	chr2:187386600-187388200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:187386600-187388200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:187386600-187388200	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:187386600-187388400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:187386600-187389000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links