Variant report

Variant	rs2698765
Chromosome Location	chr10:49567989-49567990
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	chr10:49565426..49568203-chr10:49568307..49571165,2	K562	blood:
2	chr10:49560371..49562620-chr10:49566484..49568463,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10735224	0.87[AFR][1000 genomes]
rs10735225	0.87[AFR][1000 genomes]
rs10776599	0.87[AFR][1000 genomes]
rs1542153	1.00[EUR][1000 genomes]
rs1550774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1881739	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1919705	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1978998	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2463956	0.86[AFR][1000 genomes]
rs2590379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2590380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2590387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2590388	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2590390	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2698760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2698769	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3730154	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41301111	1.00[EUR][1000 genomes]
rs4141840	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58181014	0.89[AFR][1000 genomes]
rs59377405	1.00[EUR][1000 genomes]
rs60467447	1.00[EUR][1000 genomes]
rs61343950	1.00[EUR][1000 genomes]
rs7072065	1.00[EUR][1000 genomes]
rs7073628	1.00[EUR][1000 genomes]
rs7085678	0.94[AFR][1000 genomes]
rs73293121	1.00[EUR][1000 genomes]
rs73293181	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73293198	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73298383	1.00[EUR][1000 genomes]
rs73300395	1.00[EUR][1000 genomes]
rs74130210	0.83[EUR][1000 genomes]
rs74130216	1.00[EUR][1000 genomes]
rs7894863	0.87[AFR][1000 genomes]
rs7901179	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
5	nsv6587	chr10:49526329-49571804	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49542800-49568000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:49543000-49576200	Weak transcription	Right Atrium	heart
3	chr10:49552600-49568800	Weak transcription	NHDF-Ad	bronchial
4	chr10:49559600-49568000	Weak transcription	Ovary	ovary
5	chr10:49559600-49572000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr10:49563600-49572000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:49565400-49568400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr10:49565800-49568000	Weak transcription	Psoas Muscle	Psoas
9	chr10:49566000-49568600	Weak transcription	HUVEC	blood vessel
10	chr10:49566000-49571800	Weak transcription	Adipose Nuclei	Adipose
11	chr10:49566000-49573200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr10:49566400-49580000	Weak transcription	Colon Smooth Muscle	Colon
13	chr10:49566800-49568000	Weak transcription	Brain Angular Gyrus	brain
14	chr10:49566800-49571800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr10:49567600-49568200	Enhancers	Brain Anterior Caudate	brain
16	chr10:49567800-49568000	Enhancers	Liver	Liver
17	chr10:49567800-49568000	Enhancers	Fetal Heart	heart
18	chr10:49567800-49568000	Enhancers	Rectal Smooth Muscle	rectum
19	chr10:49567800-49568000	Flanking Active TSS	K562	blood

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