Variant report

Variant	rs498193
Chromosome Location	chr8:103997435-103997436
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103876107..103878038-chr8:103994980..103997604,2	MCF-7	breast:
2	chr8:103989692..103992041-chr8:103996933..103998764,2	MCF-7	breast:
3	chr8:103996495..103999134-chr8:104007444..104009301,2	MCF-7	breast:
4	chr8:103993356..103995449-chr8:103995905..103998523,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000254281	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10092124	1.00[CEU][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10955300	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11775864	0.81[EUR][1000 genomes]
rs11777066	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs11779536	0.80[EUR][1000 genomes]
rs11985451	0.95[CEU][hapmap];0.95[GIH][hapmap];0.82[MEX][hapmap];0.81[EUR][1000 genomes]
rs1512348	0.87[JPT][hapmap]
rs1566158	0.87[JPT][hapmap]
rs1913025	1.00[CEU][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2388373	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2679733	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2679734	0.81[ASN][1000 genomes]
rs2679738	0.85[ASN][1000 genomes]
rs28693757	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2935582	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2935583	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2942225	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2945830	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3018945	0.85[ASN][1000 genomes]
rs3018946	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3018947	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4373497	1.00[CEU][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4400350	0.83[EUR][1000 genomes]
rs4592000	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs492009	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs492108	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs493743	0.88[ASN][1000 genomes]
rs494767	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs494941	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs514502	0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs515024	0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs522300	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs525817	0.83[ASN][1000 genomes]
rs543674	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs543736	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs548291	0.87[ASN][1000 genomes]
rs549251	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55743653	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs563544	0.86[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs565338	1.00[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.92[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs571301	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs575524	0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs577704	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs579324	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs582100	0.87[JPT][hapmap]
rs595227	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs596631	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs600667	0.80[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs611839	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs612340	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs612363	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62525305	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs626234	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs626253	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs627111	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs640049	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs641814	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs641839	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs661012	0.83[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs688298	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs688308	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs693341	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7816814	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7834756	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7834916	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs868907	1.00[CEU][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	esv3479710	chr8:103993376-103998574	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv3424698	chr8:103993626-103997924	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv824699	chr8:103993689-103998885	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3366496	chr8:103994001-103997724	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv611831	chr8:103995624-104002664	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs498193	OXR1	cis	parietal	SCAN
rs498193	ZNF706	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103990400-104011400	Weak transcription	Placenta	Placenta
2	chr8:103993400-104012400	Weak transcription	Spleen	Spleen
3	chr8:103994800-103999200	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:103995800-103999400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr8:103996000-104001400	Weak transcription	Primary B cells from cord blood	blood
6	chr8:103996400-104001400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:103996400-104001800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr8:103996400-104003200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:103996400-104003200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr8:103997000-103997600	Enhancers	HMEC	breast
11	chr8:103997200-103997600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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