Variant report

Variant	rs3931020
Chromosome Location	chr1:75235317-75235318
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:75234170..75236486-chr1:75241343..75243331,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1051122	0.92[ASN][1000 genomes]
rs10874122	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890142	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11485298	0.99[ASN][1000 genomes]
rs11485555	0.87[ASN][1000 genomes]
rs12410060	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1248244	0.99[ASN][1000 genomes]
rs1409785	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1465483	0.89[ASN][1000 genomes]
rs1475396	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1969111	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1980851	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs277368	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs277369	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs277374	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs277375	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs277376	1.00[ASN][1000 genomes]
rs277380	0.95[ASN][1000 genomes]
rs277396	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs277398	0.98[ASN][1000 genomes]
rs277402	0.89[ASN][1000 genomes]
rs2795030	1.00[ASN][1000 genomes]
rs28482086	0.99[ASN][1000 genomes]
rs28568334	0.97[ASN][1000 genomes]
rs28583318	0.99[ASN][1000 genomes]
rs2881153	0.99[ASN][1000 genomes]
rs28857918	0.97[ASN][1000 genomes]
rs28879157	0.97[ASN][1000 genomes]
rs3806160	0.97[ASN][1000 genomes]
rs3819946	0.87[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs405445	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs4145871	0.99[ASN][1000 genomes]
rs438014	0.98[ASN][1000 genomes]
rs452242	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs455032	0.92[ASN][1000 genomes]
rs525487	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs7522428	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.92[ASN][1000 genomes]
rs968358	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv830259	chr1:75089177-75241062	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1851105	chr1:75152186-75302921	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv871743	chr1:75235082-75714554	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Resistin levels	22843503	GWAS catalog

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs3931020	CRYZ	cis	cerebellum	SCAN
rs3931020	CRYZ	cis	lymphoblastoid	seeQTL
rs3931020	TYW3	cis	cerebellum	SCAN
rs3931020	CRYZ	cis	Adipose Subcutaneous	GTEx
rs3931020	CRYZ	cis	multi-tissue	Pritchard
rs3931020	CRYZ	cis	parietal	SCAN
rs3931020	CRYZ	cis	Lymphoblastoid	GTEx
rs3931020	TYW3	cis	parietal	SCAN
rs3931020	CRYZ	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75221400-75238000	Weak transcription	A549	lung
2	chr1:75221600-75237600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:75222200-75236000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:75226000-75237600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:75227800-75235600	Weak transcription	HUVEC	blood vessel
6	chr1:75228000-75235800	Weak transcription	Aorta	Aorta
7	chr1:75230800-75238400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:75231200-75235600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:75231200-75235800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:75231200-75237600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:75231200-75237600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:75231200-75237800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:75231200-75245600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:75231200-75246000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:75231600-75236200	Weak transcription	Primary B cells from cord blood	blood
16	chr1:75231800-75235800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:75231800-75237000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:75231800-75237400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:75232200-75238000	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links