Variant report

Variant	rs11180595
Chromosome Location	chr12:41671163-41671164
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	chr12:41670983..41671656-chr12:42057034..42057781,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11504342	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12311702	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12315869	0.85[AMR][1000 genomes]
rs12318064	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12319621	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12320153	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55829782	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs55877007	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73119019	0.92[AMR][1000 genomes]
rs73120954	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73120962	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73120983	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73120988	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73121001	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73122803	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73122812	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73122813	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73122815	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73122829	0.89[EUR][1000 genomes]
rs73122848	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7316559	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7971737	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv899034	chr12:41515090-41698342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv899035	chr12:41548545-41710912	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv469364	chr12:41631105-41710912	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv558699	chr12:41631105-41710912	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv558700	chr12:41665279-41710912	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41669000-41671200	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:41670600-41672200	Enhancers	Brain Germinal Matrix	brain
3	chr12:41670800-41671400	Enhancers	Fetal Brain Male	brain
4	chr12:41671000-41671200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:41671000-41671200	Active TSS	Brain Angular Gyrus	brain
6	chr12:41671000-41671200	Active TSS	Brain Anterior Caudate	brain
7	chr12:41671000-41671200	Active TSS	Brain Cingulate Gyrus	brain
8	chr12:41671000-41671200	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr12:41671000-41671200	Active TSS	Fetal Kidney	kidney
10	chr12:41671000-41671200	Enhancers	Ovary	ovary
11	chr12:41671000-41671400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr12:41671000-41671400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:41671000-41671400	Enhancers	Primary B cells from peripheral blood	blood
14	chr12:41671000-41671400	Enhancers	Primary hematopoietic stem cells	blood
15	chr12:41671000-41671400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:41671000-41671400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:41671000-41671400	Active TSS	Brain Hippocampus Middle	brain
18	chr12:41671000-41671400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:41671000-41671400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr12:41671000-41671400	Enhancers	Fetal Heart	heart
21	chr12:41671000-41671400	Enhancers	Fetal Muscle Leg	muscle
22	chr12:41671000-41671400	Enhancers	Left Ventricle	heart
23	chr12:41671000-41671600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:41671000-41671600	Flanking Active TSS	Brain Substantia Nigra	brain
25	chr12:41671000-41671600	Active TSS	Pancreatic Islets	Pancreatic Islet

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