Variant report

Variant	rs5008836
Chromosome Location	chr1:79658861-79658862
allele	A/G
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:20)

rs_ID	r²[population]
rs10782682	0.81[ASN][1000 genomes]
rs10874022	0.81[AFR][1000 genomes]
rs10874023	0.81[AFR][1000 genomes]
rs11162650	0.84[AFR][1000 genomes]
rs12134421	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs1352271	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1487549	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1487550	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1487551	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1487552	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs182761	0.81[AFR][1000 genomes]
rs228549	0.94[AFR][1000 genomes]
rs228550	0.94[AFR][1000 genomes]
rs228551	0.93[AFR][1000 genomes]
rs401462	0.84[AFR][1000 genomes]
rs4650390	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4650391	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6424638	0.88[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs6424639	0.89[LWK][hapmap];0.82[MKK][hapmap];0.96[YRI][hapmap]
rs7525060	0.87[CHB][hapmap];1.00[JPT][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	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv830326	chr1:79573379-79735667	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv871182	chr1:79614989-79822735	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv999471	chr1:79650363-79774433	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 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	chr1:79654200-79659000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:79654400-79659000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:79658000-79659800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:79658200-79659200	Enhancers	Thymus	Thymus
5	chr1:79658400-79659000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:79658600-79659400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:79658600-79659400	Enhancers	Fetal Thymus	thymus
8	chr1:79658800-79659000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:79658800-79659000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:79658800-79659000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:79658800-79659000	Active TSS	Adipose Nuclei	Adipose
12	chr1:79658800-79659000	Enhancers	HMEC	breast
13	chr1:79658800-79659000	Enhancers	Osteobl	bone
14	chr1:79658800-79659200	Flanking Active TSS	Hela-S3	cervix
15	chr1:79658800-79659400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr1:79658800-79659400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:79658800-79659400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:79658800-79659400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:79658800-79659400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:79658800-79659400	Enhancers	Fetal Lung	lung
21	chr1:79658800-79659400	Flanking Active TSS	NH-A	brain
22	chr1:79658800-79659400	Enhancers	NHDF-Ad	bronchial
23	chr1:79658800-79659600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:79658800-79659600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:79658800-79659600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:79658800-79659600	Enhancers	Primary hematopoietic stem cells	blood
27	chr1:79658800-79659600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:79658800-79659600	Enhancers	GM12878-XiMat	blood
29	chr1:79658800-79659600	Flanking Active TSS	HUVEC	blood vessel

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