Variant report

Variant	rs9991205
Chromosome Location	chr4:53994831-53994832
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:53987651..53991411-chr4:53993052..53996048,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10008674	0.96[AFR][1000 genomes]
rs10022830	1.00[AFR][1000 genomes]
rs10029526	1.00[AFR][1000 genomes]
rs10031285	1.00[AFR][1000 genomes]
rs17082455	0.96[AFR][1000 genomes]
rs17082523	1.00[YRI][hapmap]
rs17082533	1.00[YRI][hapmap]
rs17082570	1.00[YRI][hapmap]
rs17082591	1.00[YRI][hapmap]
rs1962074	0.81[AFR][1000 genomes]
rs28485254	0.94[AFR][1000 genomes]
rs28571997	1.00[AFR][1000 genomes]
rs28629793	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 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	chr4:53978800-54008000	Weak transcription	Primary T cells from cord blood	blood
2	chr4:53986800-54010800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:53986800-54011000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:53987800-54016800	Weak transcription	NHLF	lung
5	chr4:53988000-53997600	Weak transcription	Osteobl	bone
6	chr4:53988200-54008000	Weak transcription	Primary B cells from cord blood	blood
7	chr4:53988600-54011000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:53989200-54010200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr4:53989600-53995000	Weak transcription	Brain Substantia Nigra	brain
10	chr4:53990000-53995000	Weak transcription	HUVEC	blood vessel
11	chr4:53990400-53995000	Weak transcription	Liver	Liver
12	chr4:53992400-54009600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr4:53992800-53995400	Enhancers	Ovary	ovary
14	chr4:53993800-54027800	Weak transcription	Fetal Stomach	stomach
15	chr4:53994000-53996600	Weak transcription	Psoas Muscle	Psoas
16	chr4:53994000-53996600	Weak transcription	Right Ventricle	heart
17	chr4:53994000-53998400	Weak transcription	Aorta	Aorta
18	chr4:53994000-54011000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr4:53994200-53996000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:53994200-53996200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:53994400-53995400	Enhancers	Fetal Heart	heart
22	chr4:53994400-53995800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:53994400-53996000	Enhancers	Adipose Nuclei	Adipose
24	chr4:53994400-53996000	Enhancers	NHDF-Ad	bronchial
25	chr4:53994600-53995200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr4:53994600-53996000	Enhancers	Colon Smooth Muscle	Colon
27	chr4:53994800-53995200	Enhancers	Fetal Lung	lung
28	chr4:53994800-53995600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:53994800-53996600	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:53994800-53996600	Weak transcription	Left Ventricle	heart
31	chr4:53994800-53997800	Weak transcription	Right Atrium	heart
32	chr4:53994800-53998400	Weak transcription	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links