Variant report

Variant	rs17626313
Chromosome Location	chr6:119491960-119491961
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119484833..119487194-chr6:119490008..119492668,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1042800	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11970485	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3756943	0.94[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs4140634	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56017391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56690049	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs760784	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv886570	chr6:119450888-119600556	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119479400-119492200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:119484800-119499400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr6:119490200-119492000	Enhancers	HepG2	liver
4	chr6:119490800-119492200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr6:119491000-119492800	Enhancers	Fetal Heart	heart
6	chr6:119491200-119492400	Enhancers	Fetal Stomach	stomach
7	chr6:119491200-119492600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr6:119491200-119492800	Enhancers	Hela-S3	cervix
9	chr6:119491200-119493400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:119491200-119493400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:119491200-119494600	Enhancers	K562	blood
12	chr6:119491200-119495400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:119491200-119495600	Enhancers	Fetal Lung	lung
14	chr6:119491400-119492000	Enhancers	Adipose Nuclei	Adipose
15	chr6:119491400-119492200	Enhancers	NHEK	skin
16	chr6:119491600-119492000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:119491600-119492400	Enhancers	Liver	Liver
18	chr6:119491600-119492600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:119491800-119492000	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr6:119491800-119496800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:119491800-119500400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr6:119491800-119501000	Weak transcription	Fetal Intestine Large	intestine
23	chr6:119491800-119531200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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