Variant report

Variant	rs72789527
Chromosome Location	chr2:11451035-11451036
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11449416..11451875-chr2:11454672..11457949,3	K562	blood:
2	chr2:11450066..11451573-chr2:11455094..11457155,2	MCF-7	breast:
3	chr2:11429835..11432089-chr2:11450828..11453411,2	K562	blood:
4	chr2:11444512..11447438-chr2:11450182..11452688,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10205141	0.82[EUR][1000 genomes]
rs41264191	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs41264193	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55657626	1.00[AMR][1000 genomes]
rs55737637	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55750834	1.00[AMR][1000 genomes]
rs55841255	1.00[AMR][1000 genomes]
rs55932113	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56070302	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56268206	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56393775	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72771303	1.00[AMR][1000 genomes]
rs72771305	1.00[AMR][1000 genomes]
rs72774840	1.00[AMR][1000 genomes]
rs72785455	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785456	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785460	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785462	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72785465	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785466	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785468	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785469	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785471	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785473	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785474	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785475	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785476	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785478	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785479	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785480	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785483	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785487	1.00[AMR][1000 genomes]
rs72785488	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785489	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785491	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785496	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785497	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785500	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785501	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72785502	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72787605	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72787609	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72787611	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72787619	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72787623	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72787626	1.00[AMR][1000 genomes]
rs72787632	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72787638	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72787642	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72787646	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72787651	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72787659	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72787662	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72787664	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72787665	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72787669	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72787680	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787682	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787684	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787686	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787687	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787689	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787690	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787693	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787695	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787697	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787698	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787701	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789514	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789517	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789523	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789528	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72789529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789533	1.00[EUR][1000 genomes]
rs72789534	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789536	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789538	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789547	1.00[AMR][1000 genomes]
rs7422435	1.00[AMR][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:48 , 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	chr2:11439200-11453000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:11444000-11458600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:11444800-11454600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:11445000-11465200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:11445400-11460200	Weak transcription	Left Ventricle	heart
7	chr2:11446200-11453200	Weak transcription	K562	blood
8	chr2:11447000-11451400	Weak transcription	Small Intestine	intestine
9	chr2:11447000-11454400	Weak transcription	Fetal Heart	heart
10	chr2:11447000-11456000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:11447000-11459800	Weak transcription	Fetal Kidney	kidney
12	chr2:11447000-11460000	Weak transcription	Ovary	ovary
13	chr2:11447000-11460200	Weak transcription	Fetal Lung	lung
14	chr2:11447200-11452600	Weak transcription	Fetal Stomach	stomach
15	chr2:11447200-11454400	Weak transcription	HSMM	muscle
16	chr2:11447200-11454600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:11447200-11456000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:11447200-11466200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:11447400-11451400	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:11448000-11454400	Weak transcription	NHDF-Ad	bronchial
21	chr2:11448000-11465800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:11448200-11451400	Weak transcription	Psoas Muscle	Psoas
23	chr2:11449400-11452200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:11449400-11455400	Enhancers	HepG2	liver
25	chr2:11449600-11458800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:11449800-11451200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:11449800-11451200	Enhancers	Adipose Nuclei	Adipose
28	chr2:11449800-11451200	Enhancers	Fetal Intestine Large	intestine
29	chr2:11449800-11451200	Enhancers	Fetal Intestine Small	intestine
30	chr2:11449800-11451600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:11449800-11452200	Enhancers	Liver	Liver
32	chr2:11450200-11451200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr2:11450200-11451600	Weak transcription	Aorta	Aorta
34	chr2:11450400-11451200	Enhancers	HMEC	breast
35	chr2:11450400-11452000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:11450400-11454800	Weak transcription	Osteobl	bone
37	chr2:11450400-11455200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:11450600-11451400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:11450600-11451800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr2:11450600-11451800	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr2:11450600-11466600	Weak transcription	NHLF	lung
42	chr2:11450800-11452200	Enhancers	A549	lung
43	chr2:11451000-11451200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:11451000-11451400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:11451000-11451400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:11451000-11451600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:11451000-11452200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr2:11451000-11454400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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