Variant report

Variant	rs72789534
Chromosome Location	chr2:11455786-11455787
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11450066..11451573-chr2:11455094..11457155,2	MCF-7	breast:
2	chr2:11452123..11453873-chr2:11454228..11456636,2	MCF-7	breast:
3	chr2:11449416..11451875-chr2:11454672..11457949,3	K562	blood:
4	chr2:11455012..11457129-chr2:11460561..11462468,2	K562	blood:
5	chr2:11454425..11456556-chr2:11460014..11461725,2	MCF-7	breast:
6	chr2:11455012..11458402-chr2:11459652..11462468,3	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]
rs72789527	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]
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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11444000-11458600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:11445000-11465200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:11445400-11460200	Weak transcription	Left Ventricle	heart
4	chr2:11447000-11456000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:11447000-11459800	Weak transcription	Fetal Kidney	kidney
6	chr2:11447000-11460000	Weak transcription	Ovary	ovary
7	chr2:11447000-11460200	Weak transcription	Fetal Lung	lung
8	chr2:11447200-11456000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:11447200-11466200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:11448000-11465800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:11449600-11458800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:11450600-11466600	Weak transcription	NHLF	lung
13	chr2:11451200-11455800	Weak transcription	Fetal Intestine Small	intestine
14	chr2:11451200-11460000	Weak transcription	Adipose Nuclei	Adipose
15	chr2:11451400-11461000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:11451600-11467000	Weak transcription	Primary B cells from cord blood	blood
17	chr2:11451800-11455800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:11451800-11466000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:11452000-11460000	Weak transcription	Psoas Muscle	Psoas
20	chr2:11452000-11466000	Weak transcription	Small Intestine	intestine
21	chr2:11453400-11456000	Weak transcription	Liver	Liver
22	chr2:11454400-11456000	Enhancers	HSMM	muscle
23	chr2:11454400-11456200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:11454400-11457000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:11454400-11469800	Weak transcription	Fetal Brain Male	brain
26	chr2:11454600-11466000	Weak transcription	Brain Angular Gyrus	brain
27	chr2:11455000-11460000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:11455000-11460000	Weak transcription	K562	blood
29	chr2:11455000-11462800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:11455000-11469200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr2:11455200-11456000	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:11455200-11456000	Weak transcription	A549	lung
33	chr2:11455200-11456200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:11455200-11466600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:11455400-11456000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:11455400-11456200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:11455400-11456200	Weak transcription	HepG2	liver
38	chr2:11455600-11455800	Weak transcription	Fetal Heart	heart
39	chr2:11455600-11456000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:11455600-11465400	Weak transcription	NHDF-Ad	bronchial

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