Variant report

Variant	rs2143995
Chromosome Location	chr1:94269100-94269101
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11799613	1.00[EUR][1000 genomes]
rs11799798	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11800378	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11801536	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11804187	1.00[AMR][1000 genomes]
rs11805483	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11806874	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807845	1.00[AMR][1000 genomes]
rs11810655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11811077	1.00[AMR][1000 genomes]
rs11811811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11812065	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17878956	1.00[AMR][1000 genomes]
rs17881957	1.00[AMR][1000 genomes]
rs17884925	1.00[AMR][1000 genomes]
rs34212520	1.00[AMR][1000 genomes]
rs57824006	1.00[AMR][1000 genomes]
rs59857996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59984689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60114825	1.00[AMR][1000 genomes]
rs60465681	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6692003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6698242	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	nsv546822	chr1:94246577-94289863	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv1815663	chr1:94246577-94291252	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1877	chr1:94247756-94292908	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv508415	chr1:94256122-94305339	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 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	chr1:94262400-94270200	Enhancers	Hela-S3	cervix
2	chr1:94264400-94269200	Weak transcription	NHEK	skin
3	chr1:94264400-94270000	Weak transcription	Aorta	Aorta
4	chr1:94264600-94269800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:94264600-94270000	Weak transcription	HSMMtube	muscle
6	chr1:94264800-94269200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:94264800-94269600	Weak transcription	HSMM	muscle
8	chr1:94265000-94269200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:94265000-94269200	Weak transcription	NH-A	brain
10	chr1:94266200-94269400	Enhancers	HepG2	liver
11	chr1:94267200-94269800	Enhancers	Placenta	Placenta
12	chr1:94267400-94269800	Weak transcription	Fetal Lung	lung
13	chr1:94267600-94270200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:94267600-94273400	Weak transcription	Lung	lung
15	chr1:94268000-94269800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:94268000-94270200	Enhancers	NHDF-Ad	bronchial
17	chr1:94268200-94269200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:94268200-94269200	Weak transcription	Osteobl	bone
19	chr1:94268200-94269400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:94268200-94269400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:94268200-94269400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:94268200-94269400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:94268200-94269400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:94268200-94270200	Enhancers	HUVEC	blood vessel
25	chr1:94268200-94271000	Weak transcription	Small Intestine	intestine
26	chr1:94268400-94269400	Weak transcription	NHLF	lung
27	chr1:94268600-94271200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:94268800-94269400	Weak transcription	Right Atrium	heart
29	chr1:94268800-94270000	Enhancers	A549	lung
30	chr1:94268800-94270200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:94268800-94270200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr1:94268800-94271400	Enhancers	HMEC	breast

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