Variant report

Variant	rs949859
Chromosome Location	chr5:37822651-37822652
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11740708	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11745806	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11747340	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11951867	1.00[CEU][hapmap]
rs16903732	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17379667	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17386472	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3812047	0.81[CEU][hapmap]
rs55750779	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56000387	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56049351	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62358931	0.80[AMR][1000 genomes]
rs62360366	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62360369	0.91[EUR][1000 genomes]
rs62360370	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62360371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62360373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62360376	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62360378	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]

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	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37813400-37824400	Weak transcription	Fetal Kidney	kidney
2	chr5:37815800-37830600	Weak transcription	Ovary	ovary
3	chr5:37816200-37834000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:37816800-37823000	Weak transcription	NHEK	skin
5	chr5:37816800-37830600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr5:37816800-37831600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:37817000-37831800	Weak transcription	NH-A	brain
8	chr5:37817200-37825400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:37817400-37823200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:37817400-37823400	Weak transcription	HSMM	muscle
11	chr5:37817400-37824000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:37817400-37824000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:37817400-37826800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:37817400-37831800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:37817800-37824200	Strong transcription	Osteobl	bone
16	chr5:37818200-37834400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:37818400-37823800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:37818400-37826200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr5:37819200-37825600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:37819600-37823800	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:37820200-37832000	Strong transcription	NHDF-Ad	bronchial
22	chr5:37821200-37826400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:37821800-37824200	Strong transcription	Fetal Stomach	stomach
24	chr5:37821800-37824400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:37822000-37822800	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr5:37822200-37823400	Weak transcription	HSMMtube	muscle
27	chr5:37822600-37823800	Weak transcription	Fetal Intestine Small	intestine
28	chr5:37822600-37825800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:37822600-37834400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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