Variant report

Variant	rs2646934
Chromosome Location	chr6:37391050-37391051
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:37357575..37360002-chr6:37390264..37392492,2	MCF-7	breast:
2	chr6:37336070..37337842-chr6:37390532..37393304,2	K562	blood:
3	chr6:37391025..37393237-chr6:37463835..37465802,2	K562	blood:
4	chr6:37389971..37393834-chr6:37440150..37443110,4	MCF-7	breast:
5	chr6:37391025..37394535-chr6:37463764..37466076,3	K562	blood:
6	chr6:37290599..37292900-chr6:37390289..37392598,3	K562	blood:
7	chr6:37388900..37391581-chr6:37403584..37406042,2	MCF-7	breast:
8	chr6:37386436..37388168-chr6:37390589..37393996,3	MCF-7	breast:
9	chr6:37384249..37387029-chr6:37388839..37391579,3	K562	blood:
10	chr6:37390262..37393860-chr6:37393896..37398106,6	MCF-7	breast:
11	chr6:37383701..37387029-chr6:37388839..37391915,5	K562	blood:
12	chr6:37322263..37324339-chr6:37389226..37391465,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000112130	Chromatin interaction
ENSG00000137200	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10692	0.84[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap]
rs11756941	0.86[CHB][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12212090	0.81[ASN][1000 genomes]
rs1224127	0.85[ASN][1000 genomes]
rs1224128	0.95[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1224129	0.85[ASN][1000 genomes]
rs2252920	0.82[CEU][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs2395671	0.89[ASN][1000 genomes]
rs2646926	0.82[ASN][1000 genomes]
rs2646933	0.84[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs2776880	0.91[ASN][1000 genomes]
rs2776881	0.88[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2776906	0.84[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs2776908	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2776910	1.00[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2776911	0.96[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2776917	0.86[ASN][1000 genomes]
rs2776918	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2797790	0.83[JPT][hapmap]
rs4257849	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6929029	0.82[ASN][1000 genomes]
rs756202	0.84[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap]
rs904251	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs931649	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1807065	chr6:37379409-37399185	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2646934	RP1-153P14.5	cis	Whole Blood	GTEx
rs2646934	C6orf129	cis	parietal	SCAN
rs2646934	RP1-153P14.8	cis	Whole Blood	GTEx
rs2646934	FTSJD2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37391000-37391600	Flanking Active TSS	K562	blood

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