Variant report

Variant	rs1449161
Chromosome Location	chr5:120014380-120014381
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:120009986..120011754-chr5:120014103..120015876,2	K562	blood:

Extended variants
information (count: 28 )
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]
rs1449168	1.00[AMR][1000 genomes]
rs1470628	1.00[AMR][1000 genomes]
rs2053839	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2122189	1.00[CEU][hapmap]
rs2167022	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4640828	1.00[CEU][hapmap]
rs4895269	1.00[CEU][hapmap]
rs6595252	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6595253	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6883881	1.00[AMR][1000 genomes]
rs7446739	1.00[AMR][1000 genomes]
rs973563	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:18 , 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	chr5:120011000-120017200	Weak transcription	NHLF	lung
5	chr5:120012800-120014400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:120012800-120014400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:120012800-120015200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:120012800-120015200	Enhancers	Osteobl	bone
9	chr5:120013000-120017800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:120013400-120019400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:120013800-120014400	Enhancers	NHDF-Ad	bronchial
12	chr5:120013800-120014600	Genic enhancers	HSMM	muscle
13	chr5:120013800-120014800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:120013800-120015000	Enhancers	NH-A	brain
15	chr5:120013800-120015200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:120014000-120014400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr5:120014200-120014600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:120014200-120017800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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