Variant report

Variant	rs10208129
Chromosome Location	chr2:208912251-208912252
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:208905718..208908340-chr2:208910863..208912416,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10186630	1.00[AMR][1000 genomes]
rs10189163	1.00[AMR][1000 genomes]
rs13390083	1.00[AMR][1000 genomes]
rs13422757	1.00[AMR][1000 genomes]
rs34368414	1.00[AMR][1000 genomes]
rs55748006	1.00[AMR][1000 genomes]
rs55936323	1.00[AMR][1000 genomes]
rs56077606	1.00[AMR][1000 genomes]
rs56115457	1.00[AMR][1000 genomes]
rs56891045	1.00[AMR][1000 genomes]
rs57608666	1.00[AMR][1000 genomes]
rs58324771	1.00[AMR][1000 genomes]
rs58891474	1.00[AMR][1000 genomes]
rs61370782	1.00[AMR][1000 genomes]
rs61414132	1.00[AMR][1000 genomes]
rs6731047	1.00[AMR][1000 genomes]
rs6756930	1.00[AMR][1000 genomes]
rs73983695	1.00[AMR][1000 genomes]
rs73983696	1.00[AMR][1000 genomes]
rs73983698	1.00[AMR][1000 genomes]
rs73983699	1.00[AMR][1000 genomes]
rs73983700	1.00[AMR][1000 genomes]
rs73983701	1.00[AMR][1000 genomes]
rs73983702	1.00[AMR][1000 genomes]
rs73986503	1.00[AMR][1000 genomes]
rs73986504	1.00[AMR][1000 genomes]
rs73986505	1.00[AMR][1000 genomes]
rs73986506	1.00[AMR][1000 genomes]
rs73986507	1.00[AMR][1000 genomes]
rs73986509	1.00[AMR][1000 genomes]
rs73986510	1.00[AMR][1000 genomes]
rs73986511	1.00[AMR][1000 genomes]
rs73986512	1.00[AMR][1000 genomes]
rs7572929	1.00[AMR][1000 genomes]
rs9677413	1.00[AMR][1000 genomes]
rs9678765	1.00[AMR][1000 genomes]
rs9678918	1.00[AMR][1000 genomes]
rs9679488	1.00[AMR][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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208907000-208913800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr2:208911400-208912800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:208911800-208912800	Enhancers	HMEC	breast
4	chr2:208911800-208912800	Enhancers	NHEK	skin
5	chr2:208912000-208912800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:208912000-208912800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:208912000-208912800	Enhancers	Duodenum Mucosa	Duodenum
8	chr2:208912000-208912800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr2:208912000-208912800	Enhancers	HepG2	liver
10	chr2:208912200-208912800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr2:208912200-208912800	Enhancers	Rectal Mucosa Donor 29	rectum

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