Variant report

Variant	rs2344714
Chromosome Location	chr6:167010892-167010893
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs35501888	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3778377	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3799585	0.96[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4710074	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1029530	chr6:166977678-167016052	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166989000-167011400	Weak transcription	Ovary	ovary
2	chr6:166998000-167011200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr6:167002600-167011400	Weak transcription	Right Atrium	heart
4	chr6:167002600-167013200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:167003200-167011200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:167003200-167011200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:167003600-167011600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:167003600-167013000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:167004200-167012200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:167006000-167012400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr6:167006200-167011400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr6:167006600-167011600	Weak transcription	Aorta	Aorta
13	chr6:167008000-167012600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:167008200-167013000	Enhancers	HSMM	muscle
15	chr6:167008200-167013000	Enhancers	NHDF-Ad	bronchial
16	chr6:167008800-167013800	Enhancers	Right Ventricle	heart
17	chr6:167009200-167013200	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:167009400-167011600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr6:167009400-167011600	Enhancers	Osteobl	bone
20	chr6:167009400-167011800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr6:167009400-167015800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:167009600-167011000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:167009600-167011200	Weak transcription	Fetal Heart	heart
24	chr6:167009600-167011600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:167009600-167011600	Weak transcription	Colon Smooth Muscle	Colon
26	chr6:167009600-167014200	Weak transcription	HMEC	breast
27	chr6:167009600-167014800	Enhancers	NH-A	brain
28	chr6:167009800-167011400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:167009800-167011800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:167009800-167012200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:167009800-167012200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr6:167010000-167011400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:167010200-167014000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:167010200-167014000	Enhancers	Lung	lung
35	chr6:167010400-167011000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:167010400-167011000	Enhancers	Fetal Muscle Trunk	muscle
37	chr6:167010400-167011000	Enhancers	Pancreas	Pancrea
38	chr6:167010400-167011000	Genic enhancers	Psoas Muscle	Psoas
39	chr6:167010400-167011200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:167010400-167011200	Weak transcription	HSMMtube	muscle
41	chr6:167010400-167011600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:167010400-167011600	Enhancers	HUVEC	blood vessel
43	chr6:167010400-167012600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:167010400-167013800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr6:167010600-167011000	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr6:167010600-167011000	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr6:167010600-167011000	Enhancers	Esophagus	oesophagus
48	chr6:167010600-167011000	Bivalent Enhancer	Placenta	Placenta
49	chr6:167010600-167011000	Genic enhancers	Fetal Stomach	stomach
50	chr6:167010600-167011600	Genic enhancers	NHLF	lung

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