Variant report

Variant	rs7951628
Chromosome Location	chr11:120161117-120161118
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120159375..120161536-chr11:120164947..120166851,2	MCF-7	breast:
2	chr11:120105158..120109707-chr11:120158183..120163088,7	MCF-7	breast:
3	chr11:120101055..120116563-chr11:120160593..120179156,52	K562	blood:
4	chr11:120151774..120154252-chr11:120159688..120162065,3	K562	blood:
5	chr11:120106473..120108744-chr11:120160537..120163342,3	MCF-7	breast:
6	chr11:120159549..120163046-chr11:120164212..120166890,3	K562	blood:

Variant related genes	Relation type
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10750170	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10790373	1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs10790374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10892559	0.88[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes]
rs11217785	1.00[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11217787	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11217796	0.80[MEX][hapmap]
rs2155810	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4245211	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4936512	1.00[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.80[MEX][hapmap];0.92[ASN][1000 genomes]
rs4936513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56966127	0.97[ASN][1000 genomes]
rs6589805	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6589806	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6589807	0.84[CEU][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes]
rs7111185	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120237	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73578248	0.95[ASN][1000 genomes]
rs744983	0.81[ASW][hapmap];0.85[CEU][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes]
rs7479050	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7951628	TRIM56	trans	cerebellum	SCAN
rs7951628	RNF214	cis	parietal	SCAN
rs7951628	DPAGT1	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120159400-120162600	Weak transcription	Placenta	Placenta
2	chr11:120159600-120163800	Weak transcription	Hela-S3	cervix
3	chr11:120160000-120161400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr11:120160800-120161800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr11:120161000-120161200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr11:120161000-120161200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:120161000-120162200	Enhancers	HUES64 Cell Line	embryonic stem cell

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