Variant report

Variant	rs10512764
Chromosome Location	chr5:41157340-41157341
allele	C/T
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	chr5:41156747-41157720	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr5:41156819-41157709	MCF10A-Er-Src	breast:	n/a	n/a
3	TCF12	chr5:41157326-41157844	SK-N-SH	brain:	n/a	n/a
4	FOS	chr5:41156809-41157732	MCF10A-Er-Src	breast:	n/a	n/a
5	EP300	chr5:41157275-41157828	SK-N-SH_RA	brain:	n/a	chr5:41157289-41157303
6	GATA3	chr5:41157306-41158054	SH-SY5Y	brain:	n/a	n/a
7	NFIC	chr5:41157213-41157834	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr5:41157224-41157854	SK-N-SH	brain:	n/a	n/a
9	MYC	chr5:41156856-41157732	MCF10A-Er-Src	breast:	n/a	n/a
10	GATA3	chr5:41157222-41157827	SK-N-SH	brain:	n/a	n/a
11	FOS	chr5:41156888-41157620	MCF10A-Er-Src	breast:	n/a	n/a
12	TCF12	chr5:41157186-41157869	SK-N-SH	brain:	n/a	n/a
13	GATA2	chr5:41157304-41157870	SH-SY5Y	brain:	n/a	n/a
14	FOS	chr5:41156860-41157731	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
C6	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10041397	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10473235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11749466	0.81[CEU][hapmap]
rs1423395	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1423418	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs167815	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes]
rs16870720	0.83[YRI][hapmap]
rs16871019	0.81[CEU][hapmap]
rs170529	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs2067542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2305060	0.81[CEU][hapmap];0.89[LWK][hapmap]
rs28470701	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs325856	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs325858	0.83[CHB][hapmap];0.81[GIH][hapmap]
rs325859	0.84[CHB][hapmap]
rs325860	0.84[CHB][hapmap];0.81[GIH][hapmap]
rs325863	0.84[CHB][hapmap];0.81[GIH][hapmap]
rs325864	0.83[CHB][hapmap]
rs325866	0.84[CHB][hapmap];0.81[GIH][hapmap]
rs325867	0.84[CHB][hapmap]
rs325868	0.84[CHB][hapmap]
rs325870	0.84[CHB][hapmap]
rs325872	0.84[CHB][hapmap];0.81[GIH][hapmap]
rs325875	0.84[CHB][hapmap]
rs325876	0.83[CHB][hapmap]
rs3805715	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3830070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3830071	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3830072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3830073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs387699	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap]
rs391243	0.83[CHB][hapmap]
rs56909233	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs618334	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.84[EUR][1000 genomes]
rs644800	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs648563	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs67738881	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs865093	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap]
rs918608	0.80[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10512764	C9	cis	parietal	SCAN
rs10512764	PSMB1	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41139800-41182000	Weak transcription	Left Ventricle	heart
2	chr5:41151000-41181400	Weak transcription	Fetal Intestine Small	intestine
3	chr5:41153200-41169000	Weak transcription	Pancreas	Pancrea
4	chr5:41155000-41159200	Weak transcription	Adipose Nuclei	Adipose
5	chr5:41155200-41157400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:41155200-41161600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:41156400-41157800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:41156400-41160200	Genic enhancers	Liver	Liver
9	chr5:41156600-41157800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:41156600-41169000	Weak transcription	Fetal Intestine Large	intestine
11	chr5:41157000-41157400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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