Variant report

Variant	rs59023591
Chromosome Location	chr7:83670418-83670419
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:83662207..83663714-chr7:83668037..83670808,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1534075	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16887610	0.86[ASN][1000 genomes]
rs17158521	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158529	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158532	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158583	0.82[ASN][1000 genomes]
rs2372020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735516	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3779441	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3801604	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41323648	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60359427	0.82[ASN][1000 genomes]
rs61482260	0.82[ASN][1000 genomes]
rs66493308	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67536627	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68158025	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73175252	1.00[AFR][1000 genomes]
rs73177472	1.00[AFR][1000 genomes]
rs73181988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73183709	0.91[EUR][1000 genomes]
rs73185435	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73185447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73185458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73185463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73185469	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73185480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73187439	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73187440	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73187443	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73187445	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73187447	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73187448	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73187451	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73187453	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73187455	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73187457	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73187458	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73187460	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73187462	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73187464	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73187466	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73187470	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73187479	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73187480	0.86[ASN][1000 genomes]
rs73189355	0.82[ASN][1000 genomes]
rs73189358	0.82[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:35 , 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	chr7:83652400-83671400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:83655400-83671400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:83655400-83671600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:83655600-83671000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:83655600-83671000	Weak transcription	A549	lung
8	chr7:83655600-83673200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:83666600-83672800	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:83667000-83671200	Weak transcription	NHLF	lung
11	chr7:83667600-83672800	Weak transcription	Fetal Lung	lung
12	chr7:83668000-83672800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:83668400-83674200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:83668400-83676000	Weak transcription	Fetal Muscle Leg	muscle
15	chr7:83668800-83672000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:83669200-83671800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr7:83669400-83670800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:83669400-83674800	Enhancers	HepG2	liver
19	chr7:83669600-83670600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:83669600-83671000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:83669600-83672000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:83669800-83671000	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr7:83669800-83671400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:83669800-83673800	Weak transcription	Brain Germinal Matrix	brain
25	chr7:83670000-83671000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:83670000-83671200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:83670000-83671200	Weak transcription	Stomach Mucosa	stomach
28	chr7:83670000-83671600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:83670200-83671000	Weak transcription	NHDF-Ad	bronchial
30	chr7:83670200-83671200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:83670200-83671400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:83670200-83671400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:83670200-83673000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:83670200-83673000	Weak transcription	Brain Angular Gyrus	brain
35	chr7:83670200-83685000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links