Variant report

Variant	rs718534
Chromosome Location	chr6:119452719-119452720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119254330..119256221-chr6:119450297..119453095,2	K562	blood:
2	chr6:119450079..119455479-chr6:119456627..119461758,6	K562	blood:
3	chr6:119452081..119454221-chr6:119663183..119665490,2	MCF-7	breast:
4	chr6:119450801..119453428-chr6:119630832..119632419,2	K562	blood:

Variant related genes	Relation type
ENSG00000111877	Chromatin interaction
ENSG00000253194	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6569052	1.00[ASN][1000 genomes]
rs73767260	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808031	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119445800-119453400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:119449000-119454400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:119449800-119453400	Weak transcription	Fetal Lung	lung
4	chr6:119450400-119453200	Enhancers	Fetal Muscle Leg	muscle
5	chr6:119450400-119453400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:119450600-119453400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:119450600-119453400	Weak transcription	Adipose Nuclei	Adipose
8	chr6:119450600-119453600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr6:119450600-119458800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:119450600-119469600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:119450800-119453400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:119450800-119453400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:119450800-119453400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr6:119450800-119453400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr6:119451400-119468800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr6:119451800-119452800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:119451800-119453400	Weak transcription	HSMM	muscle
18	chr6:119451800-119460400	Weak transcription	HSMMtube	muscle
19	chr6:119452000-119453200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:119452000-119453400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:119452000-119453400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr6:119452000-119453400	Weak transcription	K562	blood
23	chr6:119452200-119452800	Weak transcription	Osteobl	bone
24	chr6:119452200-119453000	Enhancers	Pancreas	Pancrea
25	chr6:119452200-119458800	Weak transcription	HepG2	liver
26	chr6:119452400-119453400	Weak transcription	NHDF-Ad	bronchial
27	chr6:119452400-119457800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:119452600-119452800	Enhancers	Fetal Muscle Trunk	muscle
29	chr6:119452600-119453000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr6:119452600-119454200	Enhancers	Cortex derived primary cultured neurospheres	brain

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