Variant report

Variant	rs7778658
Chromosome Location	chr7:140791306-140791307
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140791037..140792664-chr7:140793260..140795969,2	K562	blood:
2	chr7:140790828..140792569-chr7:140797247..140798946,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11762357	0.94[ASN][1000 genomes]
rs1860752	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2365575	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4726263	0.92[ASN][1000 genomes]
rs491554	0.92[ASN][1000 genomes]
rs498933	0.94[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs511001	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs534348	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs536809	0.90[ASN][1000 genomes]
rs553046	0.92[ASN][1000 genomes]
rs55949610	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs560981	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6464278	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs6464330	0.88[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.87[MKK][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6944492	0.92[ASN][1000 genomes]
rs6960603	0.88[ASN][1000 genomes]
rs6962233	0.94[ASW][hapmap];0.94[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6967482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs722219	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7805034	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7806026	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7810146	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs801157	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs801158	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs9640323	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889248	chr7:140754785-140809205	Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3336433	chr7:140783089-140892541	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7778658	TRPV5	cis	cerebellum	SCAN
rs7778658	RAB19	cis	parietal	SCAN
rs7778658	TRIM24	cis	cerebellum	SCAN
rs7778658	ADCK2	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140778000-140793200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:140778800-140794400	Weak transcription	Fetal Brain Female	brain
3	chr7:140783400-140793200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:140783400-140794400	Weak transcription	Brain Angular Gyrus	brain
5	chr7:140783400-140800600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:140783400-140801400	Weak transcription	Fetal Brain Male	brain
7	chr7:140788400-140793400	Weak transcription	Brain Anterior Caudate	brain
8	chr7:140790400-140791400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:140790600-140791400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:140790800-140791400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:140790800-140791600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:140790800-140791600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:140791000-140792600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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