Variant report

Variant	rs900238
Chromosome Location	chr8:49596058-49596059
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	chr8:49594955..49597165-chr8:49608675..49610341,2	MCF-7	breast:
2	chr8:49594282..49596793-chr8:49599195..49602109,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10090157	0.82[EUR][1000 genomes]
rs10090819	1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs10092718	0.92[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10097910	0.85[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs10101066	0.87[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10111821	0.85[CHD][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs1074382	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs10808720	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs10957199	0.81[CHB][hapmap]
rs1126259	0.87[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11785748	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12155607	0.85[CHB][hapmap];0.83[CHD][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12542203	0.82[EUR][1000 genomes]
rs12547015	0.82[EUR][1000 genomes]
rs12547603	0.82[EUR][1000 genomes]
rs12547619	0.82[EUR][1000 genomes]
rs12548278	0.89[JPT][hapmap]
rs13251991	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs13276316	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1482261	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.94[ASN][1000 genomes]
rs1482262	0.85[CHB][hapmap];0.87[CHD][hapmap];0.87[GIH][hapmap];0.80[JPT][hapmap]
rs1871889	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs2384970	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2891648	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[ASN][1000 genomes]
rs35243529	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4873084	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4873285	0.87[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4873288	0.80[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55923266	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6984858	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6990865	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7835152	0.81[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs900237	0.85[CHB][hapmap];0.87[CHD][hapmap];0.87[GIH][hapmap];0.80[JPT][hapmap];0.83[MEX][hapmap]
rs9298058	0.87[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9332436	0.81[CHB][hapmap]
rs966703	0.87[CEU][hapmap];0.85[CHB][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs900238	EFCAB1	cis	cerebellum	SCAN
rs900238	C8orf22	cis	cerebellum	SCAN
rs900238	EFCAB1	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49592200-49596600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:49592200-49600600	Weak transcription	Lung	lung
3	chr8:49594400-49596800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr8:49595000-49596200	Enhancers	HUVEC	blood vessel
5	chr8:49595000-49596600	Enhancers	Fetal Kidney	kidney
6	chr8:49595200-49596200	Enhancers	Fetal Muscle Leg	muscle
7	chr8:49595200-49596400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:49595400-49596200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:49595400-49596200	Enhancers	Placenta	Placenta
10	chr8:49595400-49596600	Enhancers	Primary hematopoietic stem cells	blood
11	chr8:49595600-49596600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr8:49595800-49601800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:49595800-49607600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:49595800-49616800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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