Variant report

Variant	rs66493308
Chromosome Location	chr7:83672138-83672139
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1534075	0.90[ASN][1000 genomes]
rs16887610	0.87[ASN][1000 genomes]
rs17158521	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17158529	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17158532	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17158583	0.83[ASN][1000 genomes]
rs2372020	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3735516	0.87[ASN][1000 genomes]
rs3779441	0.90[ASN][1000 genomes]
rs3801604	0.88[ASN][1000 genomes]
rs41323648	0.94[ASN][1000 genomes]
rs59023591	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60359427	0.83[ASN][1000 genomes]
rs61482260	0.83[ASN][1000 genomes]
rs67536627	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs68158025	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73181988	0.86[ASN][1000 genomes]
rs73185435	0.90[ASN][1000 genomes]
rs73185447	0.99[ASN][1000 genomes]
rs73185458	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73185463	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73185469	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73185480	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73187439	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73187440	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73187443	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73187445	0.93[ASN][1000 genomes]
rs73187447	0.92[ASN][1000 genomes]
rs73187448	0.92[ASN][1000 genomes]
rs73187451	0.93[ASN][1000 genomes]
rs73187453	0.93[ASN][1000 genomes]
rs73187455	0.93[ASN][1000 genomes]
rs73187457	0.93[ASN][1000 genomes]
rs73187458	0.93[ASN][1000 genomes]
rs73187460	0.93[ASN][1000 genomes]
rs73187462	0.93[ASN][1000 genomes]
rs73187464	0.93[ASN][1000 genomes]
rs73187466	0.93[ASN][1000 genomes]
rs73187470	0.93[ASN][1000 genomes]
rs73187479	0.93[ASN][1000 genomes]
rs73187480	0.87[ASN][1000 genomes]
rs73189355	0.83[ASN][1000 genomes]
rs73189358	0.83[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	nsv1020784	chr7:83577402-83687108	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv888623	chr7:83596683-83687622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv888624	chr7:83596683-83698177	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv888625	chr7:83616528-83687622	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3352967	chr7:83626144-83684599	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv888626	chr7:83651854-83698177	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv888627	chr7:83659577-83708238	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv888628	chr7:83659577-83722691	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83610200-83673000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:83652200-83680200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:83655600-83673200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:83666600-83672800	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:83667600-83672800	Weak transcription	Fetal Lung	lung
6	chr7:83668000-83672800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:83668400-83674200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:83668400-83676000	Weak transcription	Fetal Muscle Leg	muscle
9	chr7:83669400-83674800	Enhancers	HepG2	liver
10	chr7:83669800-83673800	Weak transcription	Brain Germinal Matrix	brain
11	chr7:83670200-83673000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:83670200-83673000	Weak transcription	Brain Angular Gyrus	brain
13	chr7:83670200-83685000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:83671000-83672200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:83671000-83672400	Enhancers	NH-A	brain
16	chr7:83671000-83673200	Enhancers	Hela-S3	cervix
17	chr7:83671000-83673200	Enhancers	NHDF-Ad	bronchial
18	chr7:83671000-83673800	Enhancers	Osteobl	bone
19	chr7:83671200-83672200	Enhancers	NHEK	skin
20	chr7:83671200-83672200	Enhancers	NHLF	lung
21	chr7:83671200-83672400	Enhancers	HUVEC	blood vessel
22	chr7:83671200-83673400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:83671400-83672800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:83671400-83674400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:83671800-83672800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:83671800-83672800	Weak transcription	Stomach Mucosa	stomach
27	chr7:83671800-83673000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:83671800-83673000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:83671800-83673200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:83671800-83677600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr7:83671800-83687400	Weak transcription	Fetal Intestine Large	intestine
32	chr7:83672000-83672600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:83672000-83673000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:83672000-83673000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:83672000-83673000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr7:83672000-83673400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:83672000-83673400	Enhancers	A549	lung
38	chr7:83672000-83673800	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:83672000-83674200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr7:83672000-83676200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:83672000-83684600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr7:83672000-83685800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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