Variant report

Variant	rs6464330
Chromosome Location	chr7:140803520-140803521
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140772309..140775530-chr7:140801888..140805201,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261115	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11762357	0.97[ASN][1000 genomes]
rs1860752	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2365575	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4726263	0.89[ASN][1000 genomes]
rs491554	0.89[ASN][1000 genomes]
rs498933	0.94[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.89[ASN][1000 genomes]
rs511001	0.89[ASN][1000 genomes]
rs534348	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs536809	0.87[ASN][1000 genomes]
rs553046	0.89[ASN][1000 genomes]
rs55949610	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs560981	0.96[ASN][1000 genomes]
rs6464278	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs6944492	0.89[ASN][1000 genomes]
rs6960603	0.85[ASN][1000 genomes]
rs6962233	0.82[ASW][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6967482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs722219	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.91[ASN][1000 genomes]
rs7778658	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7805034	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7806026	0.88[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7810146	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs801157	0.89[ASN][1000 genomes]
rs801158	0.89[ASN][1000 genomes]
rs9640323	0.86[AFR][1000 genomes];0.96[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6464330	TMEM178B	cis	Esophagus Mucosa	GTEx
rs6464330	TRPV5	cis	cerebellum	SCAN
rs6464330	EPHA1	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140796000-140803800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:140796200-140803600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr7:140801800-140804200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:140802200-140804000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:140802600-140803600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:140802800-140804200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:140803000-140804000	Weak transcription	Brain Angular Gyrus	brain
8	chr7:140803000-140804200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:140803000-140804200	Weak transcription	Fetal Brain Female	brain
10	chr7:140803200-140804000	Weak transcription	Fetal Brain Male	brain

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