Variant report

Variant	rs2655695
Chromosome Location	chr6:80245967-80245968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1385533	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1385535	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1394288	1.00[YRI][hapmap]
rs1485368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1847499	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1875846	1.00[EUR][1000 genomes]
rs2575199	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2655664	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2655667	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2655690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2655702	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2803187	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2803196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2803198	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2814374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2814387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2814389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56010310	1.00[EUR][1000 genomes]
rs905713	1.00[YRI][hapmap]
rs9448702	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv830707	chr6:80134625-80325171	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1029259	chr6:80142754-80340332	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv886303	chr6:80147225-80252423	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv463906	chr6:80240951-80313297	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv604052	chr6:80240951-80313297	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80207600-80246000	Weak transcription	Ovary	ovary
2	chr6:80214600-80246000	Weak transcription	Fetal Stomach	stomach
3	chr6:80217800-80246000	Weak transcription	Aorta	Aorta
4	chr6:80234200-80246000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:80234400-80246400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:80235600-80246000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:80235600-80246400	Weak transcription	Small Intestine	intestine
8	chr6:80235800-80246200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:80236000-80246000	Weak transcription	HSMM	muscle
10	chr6:80238200-80246000	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:80242400-80246000	Weak transcription	Brain Angular Gyrus	brain
12	chr6:80243000-80249400	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr6:80244000-80246000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr6:80244600-80246000	Weak transcription	Fetal Lung	lung
15	chr6:80245000-80246000	Weak transcription	Fetal Heart	heart
16	chr6:80245000-80248800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:80245000-80249200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr6:80245200-80246000	Enhancers	Brain Hippocampus Middle	brain
19	chr6:80245200-80246000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr6:80245200-80248800	Active TSS	Fetal Brain Male	brain
21	chr6:80245400-80246000	Enhancers	Fetal Intestine Small	intestine
22	chr6:80245400-80246000	Enhancers	Rectal Smooth Muscle	rectum
23	chr6:80245400-80249400	Active TSS	Right Atrium	heart
24	chr6:80245600-80246000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:80245600-80246000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:80245600-80246000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:80245600-80246000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:80245600-80246000	Enhancers	NH-A	brain
29	chr6:80245600-80246000	Enhancers	NHEK	skin
30	chr6:80245600-80246200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:80245600-80248200	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr6:80245600-80248400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:80245600-80248800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:80245600-80248800	Active TSS	NHLF	lung
35	chr6:80245600-80249400	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr6:80245800-80246000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr6:80245800-80246000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:80245800-80246000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:80245800-80246000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:80245800-80246000	Enhancers	Adipose Nuclei	Adipose
41	chr6:80245800-80246000	Enhancers	Liver	Liver
42	chr6:80245800-80246000	Enhancers	Brain Cingulate Gyrus	brain
43	chr6:80245800-80246000	Enhancers	Fetal Kidney	kidney
44	chr6:80245800-80246000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr6:80245800-80246000	Active TSS	HMEC	breast
46	chr6:80245800-80246000	Active TSS	HUVEC	blood vessel
47	chr6:80245800-80246200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr6:80245800-80246200	Flanking Active TSS	Fetal Brain Female	brain
49	chr6:80245800-80246400	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr6:80245800-80246600	Active TSS	Brain Germinal Matrix	brain

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