Variant report

Variant	rs2639296
Chromosome Location	chr6:71215508-71215509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12189779	0.87[AMR][1000 genomes]
rs1739331	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2262681	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv886145	chr6:71119524-71317480	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71181600-71215800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:71183800-71216200	Weak transcription	Pancreas	Pancrea
3	chr6:71187400-71218200	Weak transcription	Small Intestine	intestine
4	chr6:71191200-71216000	Weak transcription	Gastric	stomach
5	chr6:71208800-71215600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:71209800-71216800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:71210600-71216000	Strong transcription	Placenta	Placenta
8	chr6:71210600-71262000	Weak transcription	Fetal Thymus	thymus
9	chr6:71210800-71215800	Weak transcription	Thymus	Thymus
10	chr6:71210800-71216200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:71211400-71221600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:71211600-71216400	Weak transcription	Fetal Stomach	stomach
13	chr6:71212000-71217600	Weak transcription	Hela-S3	cervix
14	chr6:71212600-71216200	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr6:71213200-71216800	Weak transcription	Stomach Mucosa	stomach
16	chr6:71214000-71215600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:71214000-71216000	Weak transcription	Primary T cells from cord blood	blood
18	chr6:71214000-71216000	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr6:71214000-71216200	Strong transcription	Duodenum Mucosa	Duodenum
20	chr6:71214000-71217000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr6:71214000-71217800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr6:71214000-71217800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr6:71214000-71218200	Weak transcription	NHDF-Ad	bronchial
24	chr6:71214000-71218400	Weak transcription	Fetal Heart	heart
25	chr6:71214000-71220600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr6:71214000-71236600	Weak transcription	Primary B cells from cord blood	blood
27	chr6:71214000-71244800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr6:71214000-71248600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:71214000-71248800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr6:71214000-71249600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:71214000-71250600	Weak transcription	Right Ventricle	heart
32	chr6:71214000-71253000	Weak transcription	Colonic Mucosa	Colon
33	chr6:71214000-71253000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:71214000-71256600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr6:71214000-71276000	Weak transcription	Brain Angular Gyrus	brain
36	chr6:71214000-71276000	Weak transcription	Brain Germinal Matrix	brain
37	chr6:71214000-71276000	Weak transcription	Colon Smooth Muscle	Colon
38	chr6:71214200-71216200	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr6:71214200-71217000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr6:71214200-71217400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:71214200-71218000	Weak transcription	HUVEC	blood vessel
42	chr6:71214200-71225800	Weak transcription	Ovary	ovary
43	chr6:71214200-71234000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:71214200-71234400	Weak transcription	Liver	Liver
45	chr6:71214200-71248200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr6:71214400-71216200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr6:71214400-71216800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:71214400-71217800	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr6:71214400-71218600	Weak transcription	Fetal Brain Female	brain
50	chr6:71214400-71220400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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