Variant report

Variant	rs11138581
Chromosome Location	chr9:72039986-72039987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72039845..72040903-chr9:72160889..72161458,4	MCF-7	breast:
2	chr9:72038579..72040872-chr9:72161729..72164338,3	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10217407	0.87[CEU][hapmap];0.92[JPT][hapmap]
rs10283713	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs10283788	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs1029064	1.00[CEU][hapmap];0.81[CHD][hapmap];0.84[JPT][hapmap]
rs1029065	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs10780360	0.83[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs10780361	0.82[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs10867423	0.84[JPT][hapmap]
rs10867477	0.84[ASN][1000 genomes]
rs10867481	0.86[ASN][1000 genomes]
rs10867647	1.00[CEU][hapmap];0.86[CHD][hapmap];0.92[JPT][hapmap]
rs10867671	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs10867672	1.00[CEU][hapmap];0.81[CHD][hapmap];0.92[JPT][hapmap]
rs1113067	1.00[CEU][hapmap];0.81[CHD][hapmap];0.92[JPT][hapmap]
rs11138566	0.85[ASN][1000 genomes]
rs11138722	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11138830	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11138843	0.84[EUR][1000 genomes]
rs11138927	1.00[CEU][hapmap];0.86[CHD][hapmap];0.92[JPT][hapmap]
rs11138941	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs11138980	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs11138986	1.00[CEU][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap]
rs11139043	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs11139050	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs11139160	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs11139181	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs11139285	1.00[CEU][hapmap]
rs11788742	1.00[CEU][hapmap];0.81[CHD][hapmap];0.92[JPT][hapmap]
rs12235168	1.00[CEU][hapmap];0.86[CHD][hapmap];0.92[JPT][hapmap]
rs12238067	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs12344522	1.00[CEU][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap]
rs12348063	1.00[CEU][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap]
rs1331972	0.85[ASN][1000 genomes]
rs1331979	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap]
rs2001699	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2297421	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs28564328	0.83[ASN][1000 genomes]
rs3793613	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3897966	0.88[CEU][hapmap];0.92[JPT][hapmap]
rs4744570	1.00[CEU][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap]
rs4744895	0.89[ASN][1000 genomes]
rs4744901	0.86[EUR][1000 genomes]
rs4744904	1.00[CEU][hapmap]
rs4744910	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs4744911	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs62570239	0.86[EUR][1000 genomes]
rs62570245	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6559498	0.84[JPT][hapmap]
rs7044071	1.00[CEU][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap]
rs7357615	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs7866250	0.84[JPT][hapmap]
rs885174	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs932967	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv893429	chr9:71961923-72047337	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1047593	chr9:71971536-72180583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1035633	chr9:71995963-72176984	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv893431	chr9:72003036-72048098	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2757340	chr9:72018246-72048098	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2759694	chr9:72018246-72048098	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv893432	chr9:72028323-72056397	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1047666	chr9:72028458-72049592	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1048650	chr9:72028458-72179847	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv2761289	chr9:72028470-72049604	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1049763	chr9:72029588-72049592	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv2422080	chr9:72029600-72049028	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1045274	chr9:72032381-72049592	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1048256	chr9:72032381-72067786	ZNF genes & repeats Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1045239	chr9:72032381-72067942	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv1041436	chr9:72032381-72069314	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	esv3396573	chr9:72033229-72054457	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	esv15039	chr9:72034725-72049025	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	esv2761532	chr9:72035189-72049604	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv442554	chr9:72035193-72049028	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	nsv1038185	chr9:72035199-72057304	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
23	esv3693030	chr9:72035847-72048477	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
24	nsv520760	chr9:72035847-72048477	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
25	nsv818703	chr9:72035847-72048477	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72027000-72040000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:72036200-72043000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr9:72036600-72082600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:72036800-72045200	Weak transcription	Fetal Brain Female	brain
5	chr9:72037200-72040200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr9:72037200-72046600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr9:72037200-72048600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:72037200-72055600	Weak transcription	Fetal Lung	lung
9	chr9:72037200-72056200	Weak transcription	Fetal Muscle Leg	muscle
10	chr9:72037400-72045200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr9:72037600-72044800	Weak transcription	Fetal Stomach	stomach
12	chr9:72037600-72046600	Weak transcription	Fetal Kidney	kidney
13	chr9:72039000-72040000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:72039400-72040000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr9:72039600-72040200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr9:72039600-72040400	Enhancers	Brain Substantia Nigra	brain
17	chr9:72039600-72043200	Enhancers	Brain Hippocampus Middle	brain
18	chr9:72039800-72040200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr9:72039800-72040200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr9:72039800-72041600	Weak transcription	Liver	Liver
21	chr9:72039800-72043000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr9:72039800-72043400	Enhancers	Brain Angular Gyrus	brain
23	chr9:72039800-72043400	Enhancers	Brain Cingulate Gyrus	brain

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