Variant report

Variant	rs4709119
Chromosome Location	chr6:166902974-166902975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1569462	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2072831	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3817777	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3817782	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3817784	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6456088	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7776293	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs909632	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv886937	chr6:166830696-166922813	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv886938	chr6:166859725-166904398	Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv886939	chr6:166859725-166922813	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166808200-166911800	Weak transcription	Psoas Muscle	Psoas
2	chr6:166862400-166920600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:166874800-166903000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:166877200-166904400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:166877200-166908800	Weak transcription	Colonic Mucosa	Colon
6	chr6:166880800-166904400	Weak transcription	NH-A	brain
7	chr6:166881400-166904400	Weak transcription	Fetal Kidney	kidney
8	chr6:166884600-166911400	Weak transcription	HMEC	breast
9	chr6:166888200-166904400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:166890600-166925200	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:166891400-166904800	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr6:166892600-166910600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr6:166893000-166923200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:166893600-166921400	Weak transcription	Fetal Brain Male	brain
15	chr6:166894800-166928400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:166895000-166905000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:166895200-166904600	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr6:166895600-166904800	Strong transcription	Pancreas	Pancrea
19	chr6:166896400-166906000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:166896600-166903600	Weak transcription	Brain Angular Gyrus	brain
21	chr6:166897000-166908800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:166897600-166922400	Weak transcription	HSMMtube	muscle
23	chr6:166898600-166904200	Strong transcription	Brain Germinal Matrix	brain
24	chr6:166899200-166905000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr6:166899400-166929400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:166899600-166907200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:166899600-166907200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:166900000-166904000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:166900400-166907800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:166900600-166903200	Strong transcription	NHDF-Ad	bronchial
31	chr6:166900600-166912200	Weak transcription	Fetal Intestine Large	intestine
32	chr6:166900800-166903000	Enhancers	Fetal Heart	heart
33	chr6:166900800-166903400	Weak transcription	Spleen	Spleen
34	chr6:166900800-166905000	Genic enhancers	Fetal Muscle Leg	muscle
35	chr6:166901000-166903200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:166901000-166903200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr6:166901000-166904200	Weak transcription	Brain Substantia Nigra	brain
38	chr6:166901000-166904400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr6:166901000-166904400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:166901000-166904600	Weak transcription	Esophagus	oesophagus
41	chr6:166901000-166904600	Weak transcription	Fetal Lung	lung
42	chr6:166901000-166904600	Weak transcription	Ovary	ovary
43	chr6:166901000-166906600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:166901000-166906600	Weak transcription	Fetal Intestine Small	intestine
45	chr6:166901000-166907000	Weak transcription	Liver	Liver
46	chr6:166901000-166907200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr6:166901000-166907800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:166901000-166911800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:166901000-166954800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr6:166901200-166903800	Weak transcription	Fetal Brain Female	brain

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