Variant report

Variant	rs6595252
Chromosome Location	chr5:120020138-120020139
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10040406	1.00[CEU][hapmap]
rs1020474	1.00[AMR][1000 genomes]
rs1158194	1.00[AMR][1000 genomes]
rs12187275	1.00[CEU][hapmap]
rs12515727	1.00[AMR][1000 genomes]
rs13166198	1.00[AMR][1000 genomes]
rs1349179	1.00[AMR][1000 genomes]
rs1449158	1.00[CEU][hapmap]
rs1449161	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1449168	1.00[AMR][1000 genomes]
rs1470628	1.00[AMR][1000 genomes]
rs2053839	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2122189	1.00[CEU][hapmap]
rs2167022	1.00[CEU][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4640828	1.00[CEU][hapmap]
rs4895269	1.00[CEU][hapmap]
rs6595253	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6883881	1.00[AMR][1000 genomes]
rs7446739	1.00[AMR][1000 genomes]
rs973563	1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1031453	chr5:119843593-120393038	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv599602	chr5:119866504-120023393	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv830464	chr5:119950090-120106717	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv599603	chr5:119953529-120317035	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv949415	chr5:119957645-120459183	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv830465	chr5:119973839-120151853	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1030613	chr5:119980213-120301205	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1029773	chr5:120018166-120213999	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119953000-120021800	Weak transcription	HSMMtube	muscle
2	chr5:120007400-120021800	Weak transcription	Fetal Lung	lung
3	chr5:120008000-120021600	Weak transcription	Aorta	Aorta
4	chr5:120016000-120020200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:120016400-120020800	Enhancers	NHDF-Ad	bronchial
6	chr5:120016600-120021000	Enhancers	Osteobl	bone
7	chr5:120017400-120020200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:120017800-120020600	Enhancers	NH-A	brain
9	chr5:120018200-120020400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:120018200-120020800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr5:120018400-120020400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:120018400-120020600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:120018400-120026000	Weak transcription	NHLF	lung
14	chr5:120018600-120020400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:120018800-120020400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:120019000-120021000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:120019200-120020200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:120019200-120021600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:120019400-120020400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:120019400-120020800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:120019400-120021000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:120019600-120020400	Weak transcription	Dnd41	blood
23	chr5:120019600-120021600	Weak transcription	HSMM	muscle
24	chr5:120019800-120020200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:120019800-120021600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:120020000-120021600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr5:120020000-120021600	Weak transcription	Fetal Stomach	stomach

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