Variant report

Variant	rs1108984
Chromosome Location	chr7:124890172-124890173
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	chr7:124878093..124880264-chr7:124889805..124892447,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1020629	1.00[CHB][hapmap]
rs1031952	0.87[CHB][hapmap]
rs10500102	0.94[CHB][hapmap]
rs10954068	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10954069	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11768346	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11771079	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1248737	0.93[CHB][hapmap]
rs1377811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1404897	0.87[CHB][hapmap]
rs1427580	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1525620	0.92[CHB][hapmap]
rs1552116	0.94[CHB][hapmap]
rs1552117	0.94[CHB][hapmap]
rs17147889	0.87[CHB][hapmap]
rs2929322	0.87[CHB][hapmap]
rs34246481	1.00[CHB][hapmap]
rs35403731	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4370475	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57452500	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57797060	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs612391	0.93[CHB][hapmap]
rs627823	0.93[CHB][hapmap]
rs6466996	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs650653	0.94[CHB][hapmap]
rs651988	1.00[CHB][hapmap]
rs663056	0.94[CHB][hapmap]
rs664062	1.00[CHB][hapmap]
rs6965196	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6973753	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7776954	1.00[ASN][1000 genomes]
rs7797011	1.00[CHB][hapmap]
rs9785002	1.00[CHB][hapmap]
rs9942625	0.93[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3394090	chr7:124602150-124900799	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv2422188	chr7:124782873-125254203	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1029627	chr7:124810399-124901651	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2761087	chr7:124823624-125429662	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1108984	KCP	cis	cerebellum	SCAN
rs1108984	POT1	cis	cerebellum	SCAN
rs1108984	LRRC4	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124871200-124892800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr7:124881800-124892600	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:124883600-124893000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:124885600-124894800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:124887200-124892200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:124887400-124898000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:124888200-124891000	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:124888400-124892800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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