Variant report

Variant	rs1391650
Chromosome Location	chr5:58376391-58376392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10037973	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10038704	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10043357	0.91[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10045150	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10075067	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10075104	0.90[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11958928	0.95[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11958956	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1353749	0.94[JPT][hapmap]
rs1363882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1391651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1463817	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1498599	0.95[CEU][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1498600	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1498601	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2409626	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5010782	1.00[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6450503	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6898374	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7730070	0.91[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs929820	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830312	chr5:58191579-58382226	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58375200-58376400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:58375200-58376400	Enhancers	Hela-S3	cervix
3	chr5:58375400-58376600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:58375400-58376600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr5:58375400-58376600	Enhancers	NHEK	skin
6	chr5:58375600-58376400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:58375600-58376400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:58375600-58376400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:58375600-58376400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr5:58375600-58376400	Enhancers	Right Atrium	heart
11	chr5:58375600-58376400	Enhancers	HepG2	liver
12	chr5:58375600-58376400	Enhancers	HMEC	breast
13	chr5:58375600-58376400	Enhancers	NH-A	brain
14	chr5:58375600-58376400	Enhancers	NHDF-Ad	bronchial
15	chr5:58375600-58376400	Enhancers	Osteobl	bone
16	chr5:58375600-58376600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:58375600-58376600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:58375600-58376600	Enhancers	HUVEC	blood vessel
19	chr5:58375600-58376600	Enhancers	NHLF	lung
20	chr5:58375600-58376800	Enhancers	HSMM	muscle
21	chr5:58375800-58376400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:58375800-58376400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:58375800-58376400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:58375800-58376400	Enhancers	Fetal Kidney	kidney
25	chr5:58375800-58376400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr5:58375800-58376400	Flanking Active TSS	A549	lung
27	chr5:58375800-58376600	Enhancers	Colon Smooth Muscle	Colon
28	chr5:58375800-58376600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr5:58375800-58376600	Enhancers	Fetal Heart	heart
30	chr5:58375800-58376600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr5:58375800-58376600	Enhancers	Rectal Smooth Muscle	rectum
32	chr5:58376000-58376400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr5:58376000-58376400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:58376000-58376400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr5:58376000-58376400	Enhancers	HSMMtube	muscle
36	chr5:58376200-58377400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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