Variant report

Variant	rs1465768
Chromosome Location	chr1:224892057-224892058
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	chr1:224890636..224894116-chr1:224907021..224910162,3	MCF-7	breast:
2	chr1:224891874..224893385-chr1:224991193..224992708,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10799277	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10799590	0.80[CEU][hapmap];0.83[AMR][1000 genomes]
rs10915696	0.84[CEU][hapmap];0.82[CHD][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10915698	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10915699	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.84[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12092438	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12124262	0.80[CEU][hapmap]
rs12130499	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs12132665	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs1369846	0.82[ASW][hapmap];0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs1369847	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1436169	0.83[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1436171	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1436172	0.82[CEU][hapmap]
rs1561110	0.88[ASW][hapmap];0.87[CEU][hapmap]
rs1603917	0.80[CEU][hapmap]
rs1603918	0.80[CEU][hapmap]
rs169888	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1965776	0.88[ASW][hapmap];0.84[CEU][hapmap];0.81[GIH][hapmap];0.96[LWK][hapmap];0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1965777	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2405525	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2648746	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2897161	0.96[CEU][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2936575	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs298732	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs298733	0.84[CEU][hapmap];0.80[MEX][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs298734	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs298735	0.84[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs298738	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs298739	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2993124	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3012185	0.84[CEU][hapmap];0.80[MEX][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4147293	0.84[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4653402	0.84[CEU][hapmap];0.80[MEX][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4653404	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4653591	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4653592	0.83[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6686604	0.84[CEU][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6686633	0.85[CEU][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67817586	0.80[EUR][1000 genomes]
rs713098	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs7511897	0.96[CEU][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7535296	0.80[CEU][hapmap]
rs7537973	0.80[CEU][hapmap]
rs7543218	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7544312	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs7545574	0.84[CEU][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs873594	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1465768	DEGS1	cis	cerebellum	SCAN
rs1465768	RAB3GAP2	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224862400-224902000	Weak transcription	Pancreas	Pancrea
2	chr1:224881400-224895400	Weak transcription	Ovary	ovary
3	chr1:224885000-224920200	Weak transcription	Right Atrium	heart
4	chr1:224885600-224895200	Weak transcription	NH-A	brain
5	chr1:224885800-224895200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:224888400-224894200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:224888800-224895600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:224889000-224892600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:224889800-224895600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:224890800-224892200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:224890800-224892200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr1:224890800-224892400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:224891000-224892600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:224891400-224892400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:224891400-224892400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:224891400-224893200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:224891600-224892200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:224891600-224892400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr1:224891600-224892400	Strong transcription	Dnd41	blood
20	chr1:224891800-224892200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:224892000-224893000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:224892000-224894000	Weak transcription	NHDF-Ad	bronchial
23	chr1:224892000-224895600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:224892000-224895600	Weak transcription	NHLF	lung

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