Variant report

Variant	rs763193
Chromosome Location	chr6:166996127-166996128
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10455979	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12661452	0.83[ASN][1000 genomes]
rs34324183	0.83[ASN][1000 genomes]
rs35574615	0.83[ASN][1000 genomes]
rs35798186	0.82[ASN][1000 genomes]
rs3778379	0.89[CHB][hapmap]
rs3778380	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs3778381	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs3778383	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs3799590	0.90[CHB][hapmap]
rs3799591	0.90[CHB][hapmap]
rs3799592	0.90[CHB][hapmap]
rs3799593	0.90[CHB][hapmap]
rs3799594	0.90[CHB][hapmap]
rs3799595	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs3799596	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs3799599	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs3799601	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs3823196	0.90[CHB][hapmap]
rs3823197	0.90[CHB][hapmap]
rs3823198	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6907098	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs6907443	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs733591	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348149	0.89[CHB][hapmap];0.84[ASN][1000 genomes]
rs9356491	0.83[ASN][1000 genomes]
rs9366029	0.90[EUR][1000 genomes]
rs9366031	0.90[CHB][hapmap]
rs960145	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[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	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	nsv886941	chr6:166907173-166996991	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv5592	chr6:166958317-167002951	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	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
6	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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166979400-166996600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr6:166979400-166997600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr6:166981800-167002400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:166986000-166996400	Weak transcription	Fetal Kidney	kidney
5	chr6:166986200-167002200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:166986600-167001400	Weak transcription	Brain Hippocampus Middle	brain
7	chr6:166986800-166997800	Weak transcription	Brain Substantia Nigra	brain
8	chr6:166986800-167003000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:166987000-166996600	Weak transcription	Osteobl	bone
10	chr6:166987000-166997200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr6:166987000-167002000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:166987200-166997600	Weak transcription	NHLF	lung
13	chr6:166987200-166998400	Weak transcription	NH-A	brain
14	chr6:166987200-167001800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:166987800-166996600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:166989000-166996600	Weak transcription	Esophagus	oesophagus
17	chr6:166989000-167011400	Weak transcription	Ovary	ovary
18	chr6:166989600-167001800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr6:166990600-167001800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:166991600-166997800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:166991600-166998800	Enhancers	Fetal Brain Male	brain
22	chr6:166991800-166996600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:166992000-166998800	Enhancers	Fetal Muscle Leg	muscle
24	chr6:166992400-167000200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:166992400-167000400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:166993600-167003000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:166993800-166996600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:166993800-166996800	Weak transcription	Fetal Heart	heart
29	chr6:166993800-167001800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr6:166994000-166996600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:166994000-167003600	Weak transcription	Brain Germinal Matrix	brain
32	chr6:166994800-167002000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr6:166995000-166996600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:166995000-166996800	Weak transcription	Aorta	Aorta
35	chr6:166995000-167008400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr6:166995200-166996800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:166995200-166997000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:166995400-166997000	Enhancers	Fetal Stomach	stomach
39	chr6:166995600-166996400	Enhancers	Muscle Satellite Cultured Cells	--
40	chr6:166995600-166996800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:166995600-166997600	Weak transcription	Right Atrium	heart
42	chr6:166995600-166998000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:166995600-167000200	Weak transcription	Brain Angular Gyrus	brain
44	chr6:166995600-167002400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr6:166995800-166996200	Weak transcription	HSMM	muscle
46	chr6:166995800-166996800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:166995800-166996800	Weak transcription	Left Ventricle	heart
48	chr6:166995800-166996800	Weak transcription	Lung	lung
49	chr6:166995800-166996800	Weak transcription	Pancreas	Pancrea
50	chr6:166995800-166997200	Weak transcription	NHDF-Ad	bronchial

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