Variant report

Variant	rs6756913
Chromosome Location	chr2:190505766-190505767
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190482045..190484817-chr2:190504102..190506545,2	MCF-7	breast:
2	chr2:190462767..190465403-chr2:190503806..190505859,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 17 )

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

rs_ID	r²[population]
rs1055091	0.94[CHB][hapmap];0.86[CHD][hapmap];0.88[TSI][hapmap]
rs10931430	0.94[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.88[TSI][hapmap];0.81[ASN][1000 genomes]
rs1132360	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs11679767	0.89[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.88[TSI][hapmap];0.81[ASN][1000 genomes]
rs1233245	0.89[CHB][hapmap]
rs1233276	0.94[CEU][hapmap]
rs1233284	0.94[CHB][hapmap];0.86[CHD][hapmap];0.88[TSI][hapmap]
rs1233288	0.94[CHB][hapmap];0.86[CHD][hapmap];0.88[TSI][hapmap]
rs1233297	0.89[CHB][hapmap];0.81[CHD][hapmap];0.85[TSI][hapmap]
rs1233302	0.94[CHB][hapmap]
rs12471663	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693551	0.94[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.95[LWK][hapmap];0.94[MKK][hapmap];0.88[TSI][hapmap];0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12693557	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs1437891	0.94[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap];0.88[TSI][hapmap]
rs16831873	0.81[CEU][hapmap]
rs1899025	0.94[CHB][hapmap];0.86[CHD][hapmap];0.88[TSI][hapmap]
rs2033870	0.94[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.81[TSI][hapmap]
rs2278591	0.81[CEU][hapmap]
rs2289226	0.94[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.93[LWK][hapmap];0.85[TSI][hapmap];0.83[AFR][1000 genomes]
rs3816196	0.89[CHB][hapmap];0.83[CHD][hapmap];0.88[TSI][hapmap]
rs4667295	0.82[AMR][1000 genomes]
rs4667296	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4667297	0.94[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.98[LWK][hapmap];0.99[MKK][hapmap];0.88[TSI][hapmap];0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4667299	0.81[ASN][1000 genomes]
rs5742938	0.94[CHB][hapmap];0.86[CHD][hapmap];0.88[TSI][hapmap]
rs5743047	0.81[CEU][hapmap]
rs5743063	0.81[CHD][hapmap]
rs5743072	0.81[CEU][hapmap]
rs61487110	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6434355	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6434361	0.80[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6753164	0.81[CEU][hapmap]
rs6756040	0.83[EUR][1000 genomes]
rs6756571	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756657	0.83[EUR][1000 genomes]
rs6761923	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6942	0.94[CHB][hapmap]
rs7568449	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.88[TSI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7571089	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs7577644	0.83[EUR][1000 genomes]
rs7591929	0.94[CHB][hapmap];0.86[CHD][hapmap];0.88[TSI][hapmap]
rs893784	0.94[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.88[TSI][hapmap];0.82[ASN][1000 genomes]
rs9646811	0.89[CHB][hapmap];0.84[JPT][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs6756913	ORMDL1	cis	cerebellum	SCAN
rs6756913	ORMDL1	cis	Adipose Subcutaneous	GTEx
rs6756913	ORMDL1	cis	Skin Sun Exposed Lower leg	GTEx
rs6756913	ASNSD1	cis	cerebellum	SCAN
rs6756913	ORMDL1	cis	parietal	SCAN
rs6756913	PMS1	cis	cerebellum	SCAN
rs6756913	ASNSD1	cis	parietal	SCAN
rs6756913	HIBCH	cis	parietal	SCAN
rs6756913	ORMDL1	cis	multi-tissue	Pritchard
rs6756913	MFSD6	cis	cerebellum	SCAN
rs6756913	ORMDL1	cis	lymphoblastoid	seeQTL
rs6756913	ASNSD1	cis	Whole Blood	GTEx
rs6756913	PMS1	Cis_1M	lymphoblastoid	RTeQTL
rs6756913	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL
rs6756913	ASNSD1	Cis_1M	lymphoblastoid	RTeQTL
rs6756913	NBLA00058	cis	multi-tissue	Pritchard
rs6756913	PMS1	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190502000-190506000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:190503000-190506200	Enhancers	Fetal Intestine Large	intestine
3	chr2:190503200-190506800	Enhancers	Hela-S3	cervix
4	chr2:190503400-190507000	Enhancers	Stomach Mucosa	stomach
5	chr2:190503600-190505800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:190504200-190505800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr2:190504200-190506200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:190505000-190506000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:190505600-190506600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:190505600-190506600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:190505600-190506600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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