Variant report

Variant	rs204240
Chromosome Location	chr6:13732018-13732019
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13712562..13715550-chr6:13731027..13734094,5	K562	blood:
2	chr6:13683514..13685773-chr6:13730850..13733772,2	K562	blood:
3	chr6:13721713..13725590-chr6:13730515..13734730,4	K562	blood:
4	chr6:13726567..13730349-chr6:13731147..13734427,5	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10456703	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs204233	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs204234	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs204235	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs204236	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs204237	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs204238	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs204239	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs204242	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs379844	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs411094	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs438942	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs442458	0.86[ASN][1000 genomes]
rs453337	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59313939	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61384492	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv883452	chr6:13704341-13733565	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13724600-13733000	Weak transcription	K562	blood
2	chr6:13729600-13733400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:13730200-13733000	Weak transcription	Placenta	Placenta
4	chr6:13730200-13733400	Weak transcription	Esophagus	oesophagus
5	chr6:13730600-13733200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:13730600-13733200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:13730600-13733200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:13730600-13733200	Weak transcription	Osteobl	bone
9	chr6:13730800-13733200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:13731000-13733200	Weak transcription	HSMM	muscle
11	chr6:13731200-13733000	Weak transcription	NHEK	skin
12	chr6:13731200-13733200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:13731200-13733200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:13731200-13733200	Weak transcription	HMEC	breast
15	chr6:13731400-13733200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:13731400-13733400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:13731600-13733200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:13731600-13733200	Weak transcription	NHDF-Ad	bronchial
19	chr6:13731600-13733200	Weak transcription	NHLF	lung
20	chr6:13731800-13733200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:13731800-13733400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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