Variant report

Variant	rs2444793
Chromosome Location	chr6:81318836-81318837
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10943730	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1840332	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902069	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2247639	0.81[ASN][1000 genomes]
rs2444826	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2444827	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2496682	0.81[EUR][1000 genomes]
rs2503728	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7750052	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9449093	0.89[ASN][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	nsv531333	chr6:81042427-81836484	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1019670	chr6:81086504-81569984	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv915714	chr6:81134888-81366749	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1020533	chr6:81288890-81406533	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv538340	chr6:81288890-81406533	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv508417	chr6:81290516-81330590	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv604085	chr6:81297890-81439973	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1015520	chr6:81309213-81374699	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81314800-81321000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:81317000-81319000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:81317000-81319000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:81317000-81321000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:81317000-81321000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:81317000-81321000	Enhancers	HMEC	breast
7	chr6:81317000-81321000	Enhancers	HSMM	muscle
8	chr6:81317000-81321200	Enhancers	NHDF-Ad	bronchial
9	chr6:81317200-81319000	Enhancers	Colon Smooth Muscle	Colon
10	chr6:81317400-81319000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:81317400-81319200	Enhancers	NHEK	skin
12	chr6:81317600-81319200	Enhancers	NH-A	brain
13	chr6:81317800-81321200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:81318200-81319000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:81318200-81319200	Enhancers	Osteobl	bone
16	chr6:81318200-81319600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:81318200-81320400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:81318200-81321000	Weak transcription	Right Atrium	heart
19	chr6:81318400-81320000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:81318400-81320600	Weak transcription	Hela-S3	cervix
21	chr6:81318400-81321000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:81318400-81321200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr6:81318400-81321200	Enhancers	HSMMtube	muscle
24	chr6:81318600-81319400	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr6:81318800-81319400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:81318800-81320000	Weak transcription	NHLF	lung

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