Variant report

Variant	rs524031
Chromosome Location	chr1:78576617-78576618
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78571657..78575752-chr1:78576103..78579567,3	MCF-7	breast:
2	chr1:78468899..78473761-chr1:78575076..78581804,16	K562	blood:
3	chr1:78390813..78392462-chr1:78574866..78577116,2	K562	blood:
4	chr1:78467852..78476620-chr1:78566212..78581721,30	K562	blood:

Variant related genes	Relation type
ENSG00000273338	Chromatin interaction
ENSG00000162614	Chromatin interaction
ENSG00000162616	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11162414	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11589864	0.82[ASN][1000 genomes]
rs1510245	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs478308	0.87[ASN][1000 genomes]
rs507045	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs522952	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs534283	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs540742	0.89[CEU][hapmap];0.85[CHB][hapmap];0.91[CHD][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs556170	0.89[CEU][hapmap]
rs561300	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs566236	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs577978	0.89[CEU][hapmap];0.88[TSI][hapmap]
rs584660	0.88[CEU][hapmap]
rs585072	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs585100	0.89[CEU][hapmap];0.84[TSI][hapmap]
rs586333	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs587433	0.89[CEU][hapmap];0.85[CHB][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs595384	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs599293	0.88[ASN][1000 genomes]
rs599417	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs599730	0.89[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs605659	0.89[CEU][hapmap]
rs609390	0.89[CEU][hapmap]
rs614963	0.88[CEU][hapmap]
rs616332	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs617195	0.88[CEU][hapmap];0.85[CHB][hapmap];0.83[EUR][1000 genomes]
rs621524	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs627654	0.89[CEU][hapmap]
rs627661	0.88[CEU][hapmap]
rs640134	0.87[ASN][1000 genomes]
rs642248	0.89[CEU][hapmap];0.85[TSI][hapmap]
rs650495	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs651897	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs661844	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs663254	0.89[CEU][hapmap];0.88[TSI][hapmap]
rs6666954	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6684364	0.88[ASW][hapmap];0.82[YRI][hapmap]
rs685393	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs685848	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs687708	0.89[CEU][hapmap]
rs812097	0.83[CEU][hapmap];0.82[TSI][hapmap]

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	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv870608	chr1:78520822-78594286	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs524031	CRYZ	cis	cerebellum	SCAN
rs524031	NEXN	Cis_1M	lymphoblastoid	RTeQTL
rs524031	TYW3	cis	cerebellum	SCAN
rs524031	SNORD45A	cis	parietal	SCAN
rs524031	CRYZ	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78546600-78579800	Weak transcription	Liver	Liver
2	chr1:78554800-78579800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:78555400-78608600	Weak transcription	Pancreas	Pancrea
4	chr1:78558600-78582800	Weak transcription	Fetal Intestine Large	intestine
5	chr1:78567000-78586800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:78567600-78607200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:78569400-78579600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:78569800-78592600	Weak transcription	Spleen	Spleen
9	chr1:78570200-78579800	Weak transcription	Psoas Muscle	Psoas
10	chr1:78570400-78579800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:78570800-78578000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:78570800-78589200	Weak transcription	Right Ventricle	heart
13	chr1:78571400-78579600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:78572000-78577200	Weak transcription	Fetal Intestine Small	intestine
15	chr1:78574800-78577800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:78575000-78577200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:78575000-78579600	Weak transcription	HSMM	muscle
18	chr1:78575800-78576800	Enhancers	HepG2	liver
19	chr1:78576200-78576800	Enhancers	NHEK	skin
20	chr1:78576400-78576800	Enhancers	K562	blood
21	chr1:78576600-78578000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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