Variant report

Variant	rs764345
Chromosome Location	chr6:2379078-2379079
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11242759	0.88[ASN][1000 genomes]
rs11242760	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11242761	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11242766	0.82[EUR][1000 genomes]
rs12189724	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12195877	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12198593	1.00[YRI][hapmap]
rs12199637	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12209220	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12209801	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12210286	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12213643	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12525582	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12526475	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12527624	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12529507	1.00[YRI][hapmap]
rs12662045	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13202573	0.82[CHB][hapmap];1.00[YRI][hapmap]
rs13214014	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13214565	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13220392	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35144026	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35612673	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3734506	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3817904	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71552116	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71552117	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9503155	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9503161	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
2	nsv883388	chr6:2093432-2514911	Strong transcription Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv883389	chr6:2093432-2776303	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
4	nsv1021573	chr6:2246721-2832408	Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
5	nsv538102	chr6:2246721-2832408	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	80 gene(s)	inside rSNPs	diseases
6	nsv883390	chr6:2265344-2584919	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv883391	chr6:2282747-2507448	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1016878	chr6:2375784-2680476	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2356200-2382200	Weak transcription	Aorta	Aorta
2	chr6:2356600-2382800	Weak transcription	Psoas Muscle	Psoas
3	chr6:2360400-2379600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:2362400-2391800	Weak transcription	Fetal Intestine Small	intestine
5	chr6:2362400-2397200	Weak transcription	Liver	Liver
6	chr6:2362800-2397200	Weak transcription	Left Ventricle	heart
7	chr6:2370200-2389000	Weak transcription	Esophagus	oesophagus
8	chr6:2376600-2380200	Enhancers	HSMM	muscle
9	chr6:2376800-2380400	Enhancers	HMEC	breast
10	chr6:2376800-2380400	Enhancers	NHDF-Ad	bronchial
11	chr6:2376800-2380600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:2376800-2389000	Weak transcription	Pancreas	Pancrea
13	chr6:2377000-2382600	Weak transcription	Gastric	stomach
14	chr6:2377600-2379200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:2377800-2380600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr6:2377800-2380600	Enhancers	Osteobl	bone
17	chr6:2377800-2381000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:2378000-2379200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:2378200-2379200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:2378200-2379400	Weak transcription	NH-A	brain
21	chr6:2378200-2380600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:2378200-2380600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:2378200-2382400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr6:2378800-2379200	Weak transcription	HSMMtube	muscle
25	chr6:2378800-2379800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:2378800-2380400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:2379000-2380200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:2379000-2380600	Enhancers	HUVEC	blood vessel

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