Variant report

Variant	rs13170550
Chromosome Location	chr5:119876374-119876375
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:119870688..119872446-chr5:119874411..119876714,2	K562	blood:
2	chr5:119875090..119877798-chr5:119880363..119881947,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10045601	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1037572	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1039546	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10519637	0.88[EUR][1000 genomes]
rs11241548	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11241549	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1157177	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1157178	0.87[EUR][1000 genomes]
rs13165484	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13171101	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1454981	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1524576	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2124162	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2168215	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs300966	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4895262	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6862351	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7706727	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs874946	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][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	nsv830463	chr5:119806643-119968825	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv462427	chr5:119838923-119928674	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv599601	chr5:119838923-119928674	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	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
6	nsv948613	chr5:119861955-119999008	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	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
8	nsv949499	chr5:119869763-119999008	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv882787	chr5:119874306-119925692	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119839800-119879800	Weak transcription	Psoas Muscle	Psoas
2	chr5:119867200-119879800	Weak transcription	Left Ventricle	heart
3	chr5:119874000-119876400	Enhancers	HMEC	breast
4	chr5:119874400-119876600	Enhancers	Fetal Heart	heart
5	chr5:119874600-119876400	Enhancers	NHDF-Ad	bronchial
6	chr5:119874600-119877000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:119874800-119876400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:119874800-119876400	Enhancers	NHLF	lung
9	chr5:119874800-119876400	Enhancers	Osteobl	bone
10	chr5:119874800-119876800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:119874800-119876800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:119874800-119877400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:119874800-119886000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:119875400-119876400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr5:119875400-119876600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:119875400-119878400	Weak transcription	HSMM	muscle
17	chr5:119876000-119876400	Enhancers	Right Atrium	heart
18	chr5:119876000-119879400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:119876000-119879600	Weak transcription	NH-A	brain
20	chr5:119876200-119876400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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