Variant report

Variant	rs72789533
Chromosome Location	chr2:11454476-11454477
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11452123..11453873-chr2:11454228..11456636,2	MCF-7	breast:
2	chr2:11454425..11456556-chr2:11460014..11461725,2	MCF-7	breast:
3	chr2:11444757..11447160-chr2:11453898..11455416,2	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10205141	0.82[EUR][1000 genomes]
rs41264191	0.82[EUR][1000 genomes]
rs41264193	0.85[EUR][1000 genomes]
rs55737637	1.00[EUR][1000 genomes]
rs55932113	0.82[EUR][1000 genomes]
rs56070302	0.92[EUR][1000 genomes]
rs56268206	0.96[EUR][1000 genomes]
rs56393775	0.82[EUR][1000 genomes]
rs72785455	0.82[EUR][1000 genomes]
rs72785456	0.82[EUR][1000 genomes]
rs72785460	0.82[EUR][1000 genomes]
rs72785462	0.80[EUR][1000 genomes]
rs72785465	0.82[EUR][1000 genomes]
rs72785466	0.82[EUR][1000 genomes]
rs72785468	0.82[EUR][1000 genomes]
rs72785469	0.82[EUR][1000 genomes]
rs72785471	0.82[EUR][1000 genomes]
rs72785473	0.82[EUR][1000 genomes]
rs72785474	0.82[EUR][1000 genomes]
rs72785475	0.82[EUR][1000 genomes]
rs72785476	0.82[EUR][1000 genomes]
rs72785478	0.82[EUR][1000 genomes]
rs72785479	0.82[EUR][1000 genomes]
rs72785480	0.82[EUR][1000 genomes]
rs72785483	0.82[EUR][1000 genomes]
rs72785488	0.82[EUR][1000 genomes]
rs72785489	0.82[EUR][1000 genomes]
rs72785491	0.82[EUR][1000 genomes]
rs72785496	0.82[EUR][1000 genomes]
rs72785497	0.82[EUR][1000 genomes]
rs72785500	0.82[EUR][1000 genomes]
rs72785501	0.82[EUR][1000 genomes]
rs72785502	0.82[EUR][1000 genomes]
rs72787605	0.82[EUR][1000 genomes]
rs72787609	0.82[EUR][1000 genomes]
rs72787611	0.82[EUR][1000 genomes]
rs72787619	0.82[EUR][1000 genomes]
rs72787623	0.82[EUR][1000 genomes]
rs72787632	0.85[EUR][1000 genomes]
rs72787638	0.85[EUR][1000 genomes]
rs72787642	0.85[EUR][1000 genomes]
rs72787646	0.85[EUR][1000 genomes]
rs72787651	0.85[EUR][1000 genomes]
rs72787659	0.85[EUR][1000 genomes]
rs72787662	0.85[EUR][1000 genomes]
rs72787664	0.85[EUR][1000 genomes]
rs72787665	0.85[EUR][1000 genomes]
rs72787669	0.81[EUR][1000 genomes]
rs72787680	0.89[EUR][1000 genomes]
rs72787682	0.89[EUR][1000 genomes]
rs72787684	0.89[EUR][1000 genomes]
rs72787686	0.89[EUR][1000 genomes]
rs72787687	0.89[EUR][1000 genomes]
rs72787689	0.92[EUR][1000 genomes]
rs72787690	0.92[EUR][1000 genomes]
rs72787693	0.92[EUR][1000 genomes]
rs72787695	0.92[EUR][1000 genomes]
rs72787697	0.92[EUR][1000 genomes]
rs72787698	0.92[EUR][1000 genomes]
rs72787701	0.92[EUR][1000 genomes]
rs72789506	1.00[EUR][1000 genomes]
rs72789514	1.00[EUR][1000 genomes]
rs72789516	1.00[EUR][1000 genomes]
rs72789517	1.00[EUR][1000 genomes]
rs72789519	1.00[EUR][1000 genomes]
rs72789523	1.00[EUR][1000 genomes]
rs72789524	1.00[EUR][1000 genomes]
rs72789527	1.00[EUR][1000 genomes]
rs72789528	0.96[EUR][1000 genomes]
rs72789529	1.00[EUR][1000 genomes]
rs72789531	1.00[EUR][1000 genomes]
rs72789534	1.00[EUR][1000 genomes]
rs72789535	1.00[EUR][1000 genomes]
rs72789536	1.00[EUR][1000 genomes]
rs72789537	1.00[EUR][1000 genomes]
rs72789538	1.00[EUR][1000 genomes]
rs72789539	1.00[EUR][1000 genomes]
rs72789543	1.00[EUR][1000 genomes]
rs72789544	1.00[EUR][1000 genomes]
rs72789546	1.00[EUR][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	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11424800-11455200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:11444000-11458600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:11444800-11454600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:11445000-11465200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:11445400-11460200	Weak transcription	Left Ventricle	heart
6	chr2:11447000-11456000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:11447000-11459800	Weak transcription	Fetal Kidney	kidney
8	chr2:11447000-11460000	Weak transcription	Ovary	ovary
9	chr2:11447000-11460200	Weak transcription	Fetal Lung	lung
10	chr2:11447200-11454600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:11447200-11456000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:11447200-11466200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:11448000-11465800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:11449400-11455400	Enhancers	HepG2	liver
15	chr2:11449600-11458800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:11450400-11454800	Weak transcription	Osteobl	bone
17	chr2:11450400-11455200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr2:11450600-11466600	Weak transcription	NHLF	lung
19	chr2:11451200-11455800	Weak transcription	Fetal Intestine Small	intestine
20	chr2:11451200-11460000	Weak transcription	Adipose Nuclei	Adipose
21	chr2:11451400-11461000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:11451600-11467000	Weak transcription	Primary B cells from cord blood	blood
23	chr2:11451800-11454800	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:11451800-11455800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:11451800-11466000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:11452000-11455000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:11452000-11460000	Weak transcription	Psoas Muscle	Psoas
28	chr2:11452000-11466000	Weak transcription	Small Intestine	intestine
29	chr2:11452200-11454600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:11452600-11455200	Enhancers	A549	lung
31	chr2:11453400-11454600	Weak transcription	K562	blood
32	chr2:11453400-11456000	Weak transcription	Liver	Liver
33	chr2:11453800-11454600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:11454000-11455000	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr2:11454200-11455000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:11454400-11454600	Enhancers	Brain Angular Gyrus	brain
37	chr2:11454400-11454800	Flanking Active TSS	Fetal Heart	heart
38	chr2:11454400-11455000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:11454400-11455000	Enhancers	GM12878-XiMat	blood
40	chr2:11454400-11455000	Enhancers	HSMMtube	muscle
41	chr2:11454400-11455600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr2:11454400-11455600	Enhancers	NHDF-Ad	bronchial
43	chr2:11454400-11456000	Enhancers	HSMM	muscle
44	chr2:11454400-11456200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:11454400-11457000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr2:11454400-11469800	Weak transcription	Fetal Brain Male	brain

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