Variant report

Variant	rs664133
Chromosome Location	chr11:75370988-75370989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75364181..75366383-chr11:75370266..75372144,2	MCF-7	breast:
2	chr11:75286949..75288532-chr11:75369547..75372456,2	MCF-7	breast:
3	chr11:75369616..75372196-chr11:75374658..75377795,3	MCF-7	breast:
4	chr11:75363830..75367510-chr11:75368962..75372910,4	K562	blood:
5	chr11:75369962..75371623-chr11:75376445..75378438,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1368135	1.00[ASW][hapmap];0.93[LWK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2015782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511005	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs544997	0.90[CEU][hapmap];0.94[CHB][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs570559	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs581522	0.81[EUR][1000 genomes]
rs584046	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs585433	0.82[JPT][hapmap]
rs588955	0.82[JPT][hapmap]
rs589063	0.82[JPT][hapmap]
rs599816	0.82[JPT][hapmap]
rs601142	0.86[CEU][hapmap];0.94[CHB][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs601293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs609131	0.93[CHB][hapmap];0.81[JPT][hapmap]
rs611221	0.86[CEU][hapmap];0.94[CHB][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs617449	0.94[CHB][hapmap];0.97[GIH][hapmap];1.00[YRI][hapmap]
rs61897968	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs629176	0.94[CHB][hapmap];0.81[EUR][1000 genomes]
rs636418	0.82[JPT][hapmap]
rs642002	0.82[CEU][hapmap];0.94[CHB][hapmap];0.82[YRI][hapmap];0.82[EUR][1000 genomes]
rs644388	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs648930	0.86[CEU][hapmap];0.94[CHB][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs652524	0.94[CHB][hapmap]
rs678320	0.81[EUR][1000 genomes]
rs678874	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs683195	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs684644	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs664133	SLCO2B1	cis	cerebellum	SCAN
rs664133	P2RY2	cis	cerebellum	SCAN
rs664133	KRTAP5-9	cis	cerebellum	SCAN
rs664133	CTD-2530H12.4	cis	Artery Tibial	GTEx
rs664133	GAB2	cis	parietal	SCAN
rs664133	C2CD3	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75364600-75378000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr11:75367200-75374200	Weak transcription	Fetal Brain Male	brain
3	chr11:75367200-75376400	Weak transcription	Brain Angular Gyrus	brain
4	chr11:75367400-75377800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr11:75367600-75371000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:75367600-75371400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:75367600-75374400	Weak transcription	Fetal Brain Female	brain
8	chr11:75367600-75376400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:75367600-75376600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:75367600-75378200	Weak transcription	Aorta	Aorta
11	chr11:75367800-75373200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:75367800-75374200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:75367800-75374200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:75367800-75374600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:75367800-75377800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr11:75368000-75373400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:75369000-75374600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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