Variant report

Variant	rs2312151
Chromosome Location	chr1:66996140-66996141
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:66995342-66996462	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
SGIP1	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10789207	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10789208	0.81[ASW][hapmap];0.95[CEU][hapmap];0.87[CHB][hapmap];0.87[CHD][hapmap];0.96[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12083791	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12093875	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144047	0.95[CEU][hapmap];0.87[CHB][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1338197	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17129012	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17472890	0.89[ASN][1000 genomes]
rs2068381	0.95[CEU][hapmap];0.87[CHB][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4655617	0.87[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs6662330	0.95[CEU][hapmap];0.87[CHB][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72677052	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7516148	0.90[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2312151	ANGPTL3	cis	parietal	SCAN
rs2312151	TCTEX1D1	cis	parietal	SCAN
rs2312151	TCTEX1D1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:66988400-66998200	Weak transcription	Osteobl	bone
2	chr1:66991800-66998600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:66992000-66997400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:66993600-66997400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:66993600-66997400	Weak transcription	NHDF-Ad	bronchial
6	chr1:66993600-66997600	Weak transcription	Fetal Heart	heart
7	chr1:66993600-66998200	Weak transcription	NHEK	skin
8	chr1:66993800-66998000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:66994000-66998000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:66994600-66996200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:66994800-66996800	Weak transcription	Left Ventricle	heart
12	chr1:66994800-66997000	Weak transcription	NHLF	lung
13	chr1:66995000-66997000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:66995000-66997200	Weak transcription	HUVEC	blood vessel
15	chr1:66995200-66996200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:66995200-66996200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:66995200-66996200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr1:66995400-66996200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr1:66995400-66996200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr1:66995600-66996200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr1:66995600-66996200	Enhancers	HUES6 Cell Line	embryonic stem cell

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