Variant report

Variant	rs710143
Chromosome Location	chr1:192796532-192796533
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	chr1:192783714..192785248-chr1:192795090..192796972,2	K562	blood:
2	chr1:192777758..192779737-chr1:192794166..192797131,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116741	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1770915	0.83[GIH][hapmap]
rs1770916	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1770917	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1770919	1.00[EUR][1000 genomes]
rs1770920	1.00[EUR][1000 genomes]
rs1775684	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1775687	0.83[GIH][hapmap]
rs2153084	1.00[EUR][1000 genomes]
rs2185124	1.00[EUR][1000 genomes]
rs2746074	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2788405	0.94[EUR][1000 genomes]
rs2797396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35000062	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs859889	1.00[AMR][1000 genomes];0.94[EUR][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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 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	chr1:192781400-192803400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:192794400-192796600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr1:192795000-192796600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:192795000-192797400	Enhancers	Hela-S3	cervix
5	chr1:192795200-192796600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr1:192795200-192796600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:192795200-192796600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr1:192795400-192796600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:192795400-192796600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:192795400-192796800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:192795400-192797000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:192795400-192797000	Enhancers	Osteobl	bone
13	chr1:192795400-192797400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:192795400-192797800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:192795400-192809000	Weak transcription	Placenta	Placenta
16	chr1:192795600-192796600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:192795600-192796800	Enhancers	NHEK	skin
18	chr1:192795600-192797400	Weak transcription	Aorta	Aorta
19	chr1:192795800-192796600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:192795800-192796600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:192795800-192796600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:192795800-192796800	Enhancers	HMEC	breast
23	chr1:192795800-192799800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:192796000-192796600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:192796000-192796800	Flanking Active TSS	HUVEC	blood vessel
26	chr1:192796200-192796800	Flanking Active TSS	A549	lung
27	chr1:192796200-192800200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:192796200-192803400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:192796200-192807000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:192796400-192796800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:192796400-192796800	Flanking Active TSS	NH-A	brain
32	chr1:192796400-192799800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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