Variant report

Variant	rs7595823
Chromosome Location	chr2:208869437-208869438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10192065	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs10196408	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10198217	0.89[ASN][1000 genomes]
rs1037416	0.90[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs10497891	0.91[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs10497892	0.82[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs10932218	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10932220	0.81[CEU][hapmap]
rs10932221	0.81[CEU][hapmap]
rs11676872	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs11679492	0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs11687058	0.82[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs11692908	0.87[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs12694097	0.85[ASN][1000 genomes]
rs13005382	0.81[CEU][hapmap]
rs13006024	0.82[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs13011597	0.89[ASN][1000 genomes]
rs13025100	0.87[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs13402422	0.84[JPT][hapmap]
rs13421034	0.81[CEU][hapmap]
rs1466185	0.82[CEU][hapmap]
rs1812697	0.89[ASN][1000 genomes]
rs2044971	0.81[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2100349	0.86[ASN][1000 genomes]
rs2100351	0.86[ASN][1000 genomes]
rs2123294	0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs2123295	0.86[ASN][1000 genomes]
rs2362782	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2362783	0.82[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs34329895	0.91[ASN][1000 genomes]
rs35086013	0.85[ASN][1000 genomes]
rs35687108	0.89[ASN][1000 genomes]
rs35726860	0.86[ASN][1000 genomes]
rs35735821	0.89[ASN][1000 genomes]
rs3795911	0.82[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs3795912	0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs4021953	0.87[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs4441448	0.85[ASN][1000 genomes]
rs4507086	0.87[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs4673377	0.82[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs61116354	0.89[ASN][1000 genomes]
rs62190895	0.89[ASN][1000 genomes]
rs6435401	0.81[JPT][hapmap]
rs6712527	0.82[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs6718363	0.89[ASN][1000 genomes]
rs6730216	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs6731479	0.88[ASN][1000 genomes]
rs6733857	0.82[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs6741366	0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7355275	0.87[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs7562306	0.83[ASN][1000 genomes]
rs7570588	0.81[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7583013	0.81[CEU][hapmap]
rs7593972	0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs7595734	0.81[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7599531	0.81[CEU][hapmap]
rs7609209	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs896636	0.82[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs930746	0.82[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs9679132	0.86[ASN][1000 genomes]
rs9789446	0.82[CEU][hapmap]
rs9789586	0.81[CEU][hapmap]
rs9789678	0.81[CEU][hapmap]

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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208836000-208878400	Weak transcription	Fetal Kidney	kidney
2	chr2:208842200-208871200	Weak transcription	Esophagus	oesophagus
3	chr2:208843600-208871200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:208854200-208889400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:208856600-208882000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:208857000-208877200	Weak transcription	Pancreas	Pancrea
7	chr2:208857200-208888000	Weak transcription	Fetal Brain Male	brain
8	chr2:208858400-208871800	Weak transcription	HSMM	muscle
9	chr2:208858600-208870600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:208858600-208870600	Weak transcription	NHEK	skin
11	chr2:208858600-208871200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:208858800-208878600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:208861000-208874800	Weak transcription	Small Intestine	intestine
14	chr2:208862800-208872800	Weak transcription	HUVEC	blood vessel
15	chr2:208862800-208877400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:208863400-208870600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:208863400-208870600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:208865200-208871200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:208865200-208871600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:208865200-208889000	Weak transcription	Brain Substantia Nigra	brain
21	chr2:208865400-208878400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr2:208865400-208878800	Weak transcription	Brain Anterior Caudate	brain
23	chr2:208865600-208877800	Weak transcription	HepG2	liver
24	chr2:208865600-208878400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:208866000-208870400	Weak transcription	HMEC	breast
26	chr2:208866000-208871800	Weak transcription	NHDF-Ad	bronchial
27	chr2:208866000-208878200	Weak transcription	Lung	lung
28	chr2:208866200-208870200	Weak transcription	Fetal Lung	lung
29	chr2:208866200-208870400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:208866200-208871200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:208866200-208871200	Weak transcription	NH-A	brain
32	chr2:208866200-208871400	Weak transcription	Osteobl	bone
33	chr2:208866200-208871600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:208866200-208878200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:208866200-208882400	Weak transcription	Aorta	Aorta
36	chr2:208866400-208869600	Weak transcription	Fetal Thymus	thymus
37	chr2:208866400-208871200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:208866400-208871600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:208866400-208874800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:208866400-208875200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:208866400-208877200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr2:208866400-208877200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:208866400-208882000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:208866400-208888200	Weak transcription	Ovary	ovary
45	chr2:208866600-208870600	Weak transcription	Fetal Muscle Leg	muscle
46	chr2:208866600-208871600	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:208866600-208875000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr2:208866600-208875000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr2:208866600-208875200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:208866600-208878200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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