Variant report

Variant	rs6943044
Chromosome Location	chr7:83791040-83791041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10488269	1.00[JPT][hapmap]
rs17158642	1.00[JPT][hapmap]
rs17158647	1.00[JPT][hapmap]
rs17158675	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs17158680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158685	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs1990046	1.00[GIH][hapmap];1.00[JPT][hapmap]
rs55923950	1.00[EUR][1000 genomes]
rs56663012	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58382291	1.00[EUR][1000 genomes]
rs58675984	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59186128	1.00[EUR][1000 genomes]
rs60227422	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66539631	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975522	1.00[EUR][1000 genomes]
rs73177487	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73380837	0.95[AFR][1000 genomes]
rs73380843	1.00[EUR][1000 genomes]
rs7786079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786377	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7787696	1.00[JPT][hapmap]
rs7804558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7806601	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808547	1.00[GIH][hapmap];1.00[JPT][hapmap]

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	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv517852	chr7:83782435-83794756	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv888630	chr7:83782839-83809111	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83770800-83795000	Weak transcription	NHDF-Ad	bronchial
2	chr7:83775400-83791600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:83777000-83803000	Weak transcription	NHLF	lung
4	chr7:83778000-83803000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:83779400-83791600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:83785000-83791600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:83785000-83803000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:83787000-83791400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:83787000-83791400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:83787000-83791600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:83787200-83791200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:83787200-83791600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:83787200-83791600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:83787200-83791600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:83787400-83792000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:83787400-83792000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:83787400-83803000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:83787800-83804600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:83789200-83791600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:83789200-83792000	Weak transcription	Fetal Heart	heart
21	chr7:83790400-83792200	Enhancers	Colon Smooth Muscle	Colon
22	chr7:83790600-83792400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:83790800-83791200	Enhancers	A549	lung
24	chr7:83790800-83792200	Enhancers	Brain Substantia Nigra	brain
25	chr7:83790800-83792400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:83790800-83792400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr7:83790800-83792400	Enhancers	Fetal Lung	lung
28	chr7:83790800-83792400	Enhancers	Rectal Smooth Muscle	rectum
29	chr7:83791000-83791400	Weak transcription	Fetal Stomach	stomach
30	chr7:83791000-83792000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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