Variant report

Variant	rs72789543
Chromosome Location	chr2:11467033-11467034
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11465940..11468205-chr2:11479384..11482432,3	MCF-7	breast:
2	chr2:11465949..11467499-chr2:11475511..11477428,2	MCF-7	breast:

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]
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]
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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11454400-11469800	Weak transcription	Fetal Brain Male	brain
2	chr2:11455000-11469200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:11456000-11469400	Weak transcription	HSMM	muscle
4	chr2:11457200-11476400	Weak transcription	Fetal Intestine Small	intestine
5	chr2:11457400-11469800	Weak transcription	Hela-S3	cervix
6	chr2:11459800-11469400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:11460600-11469400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:11460800-11469800	Weak transcription	Fetal Lung	lung
9	chr2:11461000-11467200	Weak transcription	Right Ventricle	heart
10	chr2:11461000-11476400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:11461200-11469400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:11462400-11467600	Weak transcription	Left Ventricle	heart
13	chr2:11464200-11467200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:11464400-11467200	Weak transcription	Ovary	ovary
15	chr2:11464400-11475200	Weak transcription	Aorta	Aorta
16	chr2:11465200-11467800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:11465400-11467200	Enhancers	Right Atrium	heart
18	chr2:11465400-11467800	Enhancers	Brain Anterior Caudate	brain
19	chr2:11465600-11467600	Enhancers	Brain Substantia Nigra	brain
20	chr2:11465800-11467400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:11466000-11467200	Enhancers	Small Intestine	intestine
22	chr2:11466000-11467400	Enhancers	K562	blood
23	chr2:11466000-11467800	Enhancers	Adipose Nuclei	Adipose
24	chr2:11466000-11467800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:11466000-11468600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:11466200-11467200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:11466200-11469400	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:11466400-11467200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:11466400-11467200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:11466400-11467800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:11466400-11468000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:11466600-11467200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr2:11466600-11467200	Enhancers	Brain Germinal Matrix	brain
34	chr2:11466600-11467400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr2:11466600-11467400	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr2:11466600-11467400	Flanking Active TSS	HUVEC	blood vessel
37	chr2:11466600-11467600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:11466600-11467800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:11466600-11467800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr2:11466600-11467800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr2:11466600-11468000	Enhancers	Psoas Muscle	Psoas
42	chr2:11466600-11468400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:11466800-11467200	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr2:11466800-11467200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:11466800-11467400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr2:11466800-11467400	Enhancers	Primary B cells from peripheral blood	blood
47	chr2:11466800-11467400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr2:11466800-11467600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:11466800-11467600	Enhancers	Brain Angular Gyrus	brain
50	chr2:11466800-11467600	Enhancers	A549	lung

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