Variant report

Variant	rs495590
Chromosome Location	chr1:172122809-172122810
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10752864	0.93[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs1555381	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs2104037	1.00[YRI][hapmap]
rs2819527	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs2819530	0.85[CHB][hapmap];0.97[CHD][hapmap];0.81[LWK][hapmap];0.82[TSI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4075021	0.88[CHD][hapmap]
rs4244192	0.86[CHB][hapmap];0.85[CHD][hapmap]
rs484686	0.87[ASW][hapmap];0.89[CEU][hapmap]
rs532688	0.82[CEU][hapmap]
rs6693520	0.81[ASN][1000 genomes]
rs672740	0.81[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532342	chr1:171922237-172133785	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172114400-172137000	Weak transcription	Brain Angular Gyrus	brain
2	chr1:172114800-172123600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:172115000-172123400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:172115000-172123600	Weak transcription	Adipose Nuclei	Adipose
5	chr1:172115000-172133800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:172115600-172132600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:172116000-172123400	Weak transcription	NH-A	brain
8	chr1:172116400-172123200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:172116800-172123400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:172118200-172123200	Weak transcription	HUVEC	blood vessel
11	chr1:172119000-172125000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:172119600-172123400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:172120000-172123600	Weak transcription	Ovary	ovary
14	chr1:172122000-172123400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:172122000-172123600	Weak transcription	Fetal Kidney	kidney
16	chr1:172122200-172123000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:172122200-172123400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:172122200-172123600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:172122200-172123600	Enhancers	NHDF-Ad	bronchial
20	chr1:172122200-172124800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:172122200-172124800	Enhancers	HMEC	breast
22	chr1:172122200-172125400	Enhancers	NHEK	skin
23	chr1:172122400-172123400	Enhancers	NHLF	lung
24	chr1:172122400-172125000	Weak transcription	Fetal Lung	lung
25	chr1:172122600-172123000	Weak transcription	Osteobl	bone
26	chr1:172122600-172123600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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