Variant report

Variant	rs11776081
Chromosome Location	chr8:11431222-11431223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr8:11431111-11431385	T-47D	breast:	n/a	n/a
2	ESR1	chr8:11431157-11431351	T-47D	breast:	n/a	n/a
3	GATA3	chr8:11431030-11431395	T-47D	breast:	n/a	n/a
4	FOXA1	chr8:11431015-11431399	T-47D	breast:	n/a	chr8:11431339-11431354
5	ESR1	chr8:11431113-11431458	T-47D	breast:	n/a	n/a
6	ESR1	chr8:11431114-11431394	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11422187..11423813-chr8:11429710..11432078,2	MCF-7	breast:
2	chr8:11429172..11431915-chr8:11433216..11435875,2	MCF-7	breast:
3	chr8:11429899..11432844-chr8:11444265..11445875,2	MCF-7	breast:
4	chr8:11430263..11432062-chr8:11433287..11435276,2	K562	blood:

Variant related genes	Relation type
LINC00208	TF binding region
ENSG00000170983	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10093575	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10094362	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11774549	1.00[JPT][hapmap]
rs11777648	0.83[AFR][1000 genomes]
rs11779184	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11786268	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2127128	0.85[CHD][hapmap]
rs2250986	1.00[JPT][hapmap]
rs2306234	0.85[CHD][hapmap]
rs28604385	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841565	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62490880	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62490881	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62490888	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62490890	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62490891	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62490892	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62490893	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62490930	0.91[AFR][1000 genomes]
rs62490931	0.91[AFR][1000 genomes]
rs62490932	0.91[AFR][1000 genomes]
rs62490933	0.83[AFR][1000 genomes]
rs73197313	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs732947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs746411	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs755320	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs899366	0.85[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1026837	chr8:11394466-11464127	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1018959	chr8:11395232-11455756	Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv890358	chr8:11396856-11448738	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1033629	chr8:11401789-11466745	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv523827	chr8:11408401-11486220	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1032195	chr8:11420541-11480692	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1016749	chr8:11422571-11466745	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11776081	PRSS55	cis	cerebellum	SCAN
rs11776081	DEFB134	cis	cerebellum	SCAN
rs11776081	CTSB	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11425200-11440400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:11429000-11431600	Enhancers	Ovary	ovary
3	chr8:11429200-11431400	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr8:11429200-11432600	Enhancers	Stomach Mucosa	stomach
5	chr8:11429600-11431600	Enhancers	HepG2	liver
6	chr8:11430200-11431600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
7	chr8:11430400-11431400	Bivalent Enhancer	Hela-S3	cervix
8	chr8:11430800-11431400	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
9	chr8:11430800-11431600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:11431000-11432000	Weak transcription	Pancreas	Pancrea
11	chr8:11431000-11432000	Weak transcription	Spleen	Spleen
12	chr8:11431000-11432200	Weak transcription	Esophagus	oesophagus
13	chr8:11431000-11432200	Weak transcription	Gastric	stomach
14	chr8:11431000-11432200	Weak transcription	Left Ventricle	heart
15	chr8:11431000-11432200	Weak transcription	Right Ventricle	heart
16	chr8:11431000-11432200	Enhancers	Stomach Smooth Muscle	stomach
17	chr8:11431000-11432600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr8:11431000-11436000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:11431000-11436000	Weak transcription	Right Atrium	heart
20	chr8:11431200-11431400	Flanking Active TSS	Fetal Heart	heart
21	chr8:11431200-11432200	Weak transcription	Placenta	Placenta

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