Variant report

Variant	rs10874122
Chromosome Location	chr1:75235866-75235867
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: 9 )

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

rs_ID	r²[population]
rs1051122	0.92[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	0.97[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	0.88[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3931020	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs10874122	CRYZ	cis	Lymphoblastoid	GTEx
rs10874122	CRYZ	cis	parietal	SCAN
rs10874122	CRYZ	cis	multi-tissue	Pritchard
rs10874122	CRYZ	cis	Adipose Subcutaneous	GTEx
rs10874122	CRYZ	cis	lymphoblastoid	seeQTL
rs10874122	CRYZ	cis	cerebellum	SCAN
rs10874122	TYW3	cis	parietal	SCAN
rs10874122	TYW3	cis	cerebellum	SCAN
rs10874122	CRYZ	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:14 , 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	chr1:75230800-75238400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:75231200-75237600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:75231200-75237600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:75231200-75237800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:75231200-75245600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:75231200-75246000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:75231600-75236200	Weak transcription	Primary B cells from cord blood	blood
12	chr1:75231800-75237000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:75231800-75237400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:75232200-75238000	Weak transcription	Liver	Liver

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