Variant report

Variant	rs2072830
Chromosome Location	chr6:166903987-166903988
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2072832	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2072833	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2235276	0.81[ASN][1000 genomes]
rs2235277	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2281045	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35665106	0.89[EUR][1000 genomes]
rs3765235	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3799671	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3817778	0.93[EUR][1000 genomes]
rs3817780	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3817781	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3817783	0.91[EUR][1000 genomes]
rs3817786	0.90[EUR][1000 genomes]
rs4710056	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9347130	0.89[EUR][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:101 , 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	chr6:166877200-166904400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:166877200-166908800	Weak transcription	Colonic Mucosa	Colon
5	chr6:166880800-166904400	Weak transcription	NH-A	brain
6	chr6:166881400-166904400	Weak transcription	Fetal Kidney	kidney
7	chr6:166884600-166911400	Weak transcription	HMEC	breast
8	chr6:166888200-166904400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:166890600-166925200	Weak transcription	Colon Smooth Muscle	Colon
10	chr6:166891400-166904800	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr6:166892600-166910600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:166893000-166923200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:166893600-166921400	Weak transcription	Fetal Brain Male	brain
14	chr6:166894800-166928400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:166895000-166905000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:166895200-166904600	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr6:166895600-166904800	Strong transcription	Pancreas	Pancrea
18	chr6:166896400-166906000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:166897000-166908800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:166897600-166922400	Weak transcription	HSMMtube	muscle
21	chr6:166898600-166904200	Strong transcription	Brain Germinal Matrix	brain
22	chr6:166899200-166905000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr6:166899400-166929400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:166899600-166907200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:166899600-166907200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:166900000-166904000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:166900400-166907800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:166900600-166912200	Weak transcription	Fetal Intestine Large	intestine
29	chr6:166900800-166905000	Genic enhancers	Fetal Muscle Leg	muscle
30	chr6:166901000-166904200	Weak transcription	Brain Substantia Nigra	brain
31	chr6:166901000-166904400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:166901000-166904400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:166901000-166904600	Weak transcription	Esophagus	oesophagus
34	chr6:166901000-166904600	Weak transcription	Fetal Lung	lung
35	chr6:166901000-166904600	Weak transcription	Ovary	ovary
36	chr6:166901000-166906600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:166901000-166906600	Weak transcription	Fetal Intestine Small	intestine
38	chr6:166901000-166907000	Weak transcription	Liver	Liver
39	chr6:166901000-166907200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr6:166901000-166907800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:166901000-166911800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:166901000-166954800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr6:166901400-166904000	Weak transcription	Brain Hippocampus Middle	brain
44	chr6:166901400-166922000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:166901600-166906000	Enhancers	HUVEC	blood vessel
46	chr6:166901600-166907200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:166901800-166905800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr6:166902000-166905000	Genic enhancers	Left Ventricle	heart
49	chr6:166902200-166904200	Strong transcription	Gastric	stomach
50	chr6:166902200-166904200	Weak transcription	Stomach Mucosa	stomach

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