Variant report

Variant	rs7008165
Chromosome Location	chr8:54431866-54431867
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10090582	0.88[ASN][1000 genomes]
rs10093741	0.88[ASN][1000 genomes]
rs10216947	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504155	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6473841	0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752674	chr8:54181147-54483747	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54411800-54433400	Weak transcription	Colon Smooth Muscle	Colon
2	chr8:54419200-54436200	Weak transcription	Pancreas	Pancrea
3	chr8:54421800-54434800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:54422800-54434800	Weak transcription	Esophagus	oesophagus
5	chr8:54426400-54433000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:54426400-54434600	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:54427200-54433200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:54427200-54433400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:54427400-54433000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:54427400-54434600	Weak transcription	NHLF	lung
11	chr8:54427600-54433200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:54427600-54433400	Weak transcription	HMEC	breast
13	chr8:54427800-54436200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:54428000-54434400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:54428200-54435000	Weak transcription	Fetal Stomach	stomach
16	chr8:54428600-54433400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:54428800-54433000	Weak transcription	NH-A	brain
18	chr8:54428800-54433600	Weak transcription	Left Ventricle	heart
19	chr8:54428800-54435200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:54429000-54433400	Weak transcription	HSMMtube	muscle
21	chr8:54429200-54434600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:54429600-54432600	Weak transcription	Ovary	ovary
23	chr8:54429600-54433400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:54429800-54432200	Weak transcription	Osteobl	bone
25	chr8:54429800-54432800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr8:54430000-54433400	Weak transcription	Aorta	Aorta
27	chr8:54430000-54433400	Weak transcription	Right Ventricle	heart
28	chr8:54430000-54433400	Weak transcription	HSMM	muscle
29	chr8:54430000-54433600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:54430600-54436000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:54431400-54433200	Weak transcription	Fetal Heart	heart
32	chr8:54431600-54432000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links