Variant report

Variant	rs820866
Chromosome Location	chr5:73978701-73978702
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	FOS	chr5:73978489-73978821	MCF10A-Er-Src	breast:	n/a	n/a
2	JUND	chr5:73978275-73978712	K562	blood:	n/a	n/a
3	PBX3	chr5:73978506-73978908	SK-N-SH	brain:	n/a	n/a
4	FOS	chr5:73978488-73978850	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr5:73978513-73978831	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr5:73978506-73978804	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:73974217..73979066-chr5:73979317..73982643,5	K562	blood:

Variant related genes	Relation type
HEXB	TF binding region
ENSG00000049860	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2936918	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6896615	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs820841	0.85[EUR][1000 genomes]
rs820862	0.86[EUR][1000 genomes]
rs820863	0.85[EUR][1000 genomes]
rs820867	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs820868	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs820869	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs820870	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs820871	0.81[YRI][hapmap];0.83[AFR][1000 genomes]
rs820872	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs820874	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs820876	0.96[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.87[EUR][1000 genomes]
rs820879	0.92[YRI][hapmap];0.89[AFR][1000 genomes]
rs820880	0.94[ASW][hapmap];0.85[LWK][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes]
rs820881	0.88[YRI][hapmap];0.82[AFR][1000 genomes]
rs820882	0.92[YRI][hapmap];0.86[AFR][1000 genomes]
rs820883	0.94[ASW][hapmap];0.87[LWK][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs820885	0.94[ASW][hapmap];0.87[LWK][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes]
rs820886	0.80[AFR][1000 genomes]
rs820887	0.82[AFR][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs820866	TMEM174	cis	parietal	SCAN
rs820866	HEXB	cis	cerebellum	SCAN
rs820866	MAP1B	cis	parietal	SCAN
rs820866	HEXB	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:73966800-73980200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:73966800-73980600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:73969800-73978800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:73969800-73980600	Weak transcription	HMEC	breast
5	chr5:73969800-73980600	Weak transcription	HSMM	muscle
6	chr5:73969800-73980800	Weak transcription	NHLF	lung
7	chr5:73971800-73980200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:73973400-73979400	Weak transcription	Placenta	Placenta
9	chr5:73973800-73980600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:73975200-73980200	Weak transcription	Spleen	Spleen
11	chr5:73976000-73980600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:73976200-73978800	Weak transcription	NHEK	skin
13	chr5:73976200-73980200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr5:73976200-73980600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:73976200-73980600	Weak transcription	Osteobl	bone
16	chr5:73976200-73981000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:73976400-73980000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:73976400-73980200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:73976400-73980200	Weak transcription	Hela-S3	cervix
20	chr5:73976800-73980600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:73977400-73980800	Weak transcription	HSMMtube	muscle
22	chr5:73978000-73980000	Weak transcription	K562	blood
23	chr5:73978400-73980600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:73978400-73980600	Enhancers	Fetal Intestine Large	intestine
25	chr5:73978600-73979000	Enhancers	NH-A	brain
26	chr5:73978600-73980600	Enhancers	Fetal Intestine Small	intestine

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