Variant report

Variant	rs58147945
Chromosome Location	chr11:46500654-46500655
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46499318..46501948-chr11:46523167..46525991,2	MCF-7	breast:

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10160701	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838602	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038897	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11038900	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11038906	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038914	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038919	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11038927	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11819869	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272795	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12283172	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12292425	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12295266	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12573978	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12574250	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12574668	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12575519	0.96[EUR][1000 genomes]
rs12576115	0.92[EUR][1000 genomes]
rs12576317	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576359	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12577142	0.94[EUR][1000 genomes]
rs12578042	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1472001	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1489192	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938506	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17197116	0.97[ASN][1000 genomes]
rs2046768	0.96[EUR][1000 genomes]
rs2067482	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2171667	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2171668	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2279465	0.96[EUR][1000 genomes]
rs2291487	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2864072	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2864076	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2902858	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34406563	0.95[EUR][1000 genomes]
rs35324223	0.84[EUR][1000 genomes]
rs35623865	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3740974	0.96[EUR][1000 genomes]
rs3740977	0.95[EUR][1000 genomes]
rs3802888	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4307676	0.86[EUR][1000 genomes]
rs55657382	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55661562	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55750336	0.97[ASN][1000 genomes]
rs57535407	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59319338	0.94[EUR][1000 genomes]
rs60722866	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60932698	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882674	0.81[EUR][1000 genomes]
rs61882678	0.88[EUR][1000 genomes]
rs61882682	0.94[EUR][1000 genomes]
rs61882683	0.92[EUR][1000 genomes]
rs61882691	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61882701	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61882702	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61882706	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61882709	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882710	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882711	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882712	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61882720	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882743	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882746	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882748	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882750	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882756	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61882757	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61882758	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61884262	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61884264	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61884271	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61884273	0.86[EUR][1000 genomes]
rs61884274	0.86[EUR][1000 genomes]
rs6485682	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6485685	0.89[EUR][1000 genomes]
rs7108770	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7112229	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7122039	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7125907	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7126316	0.84[EUR][1000 genomes]
rs7126343	0.86[EUR][1000 genomes]
rs7127529	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128092	0.85[EUR][1000 genomes]
rs7130141	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73449983	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7481312	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7484002	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs756343	0.97[ASN][1000 genomes]
rs7924401	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7930103	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7932866	0.88[EUR][1000 genomes]
rs7936413	0.96[EUR][1000 genomes]
rs7946705	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7951579	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7951870	0.97[EUR][1000 genomes]
rs876701	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46456800-46515000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr11:46464200-46513000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:46465000-46513400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:46465200-46504400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr11:46465600-46511200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr11:46478400-46504800	Weak transcription	Fetal Kidney	kidney
7	chr11:46479000-46513400	Weak transcription	Spleen	Spleen
8	chr11:46479000-46525600	Weak transcription	Lung	lung
9	chr11:46485600-46511200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:46486000-46511400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:46486000-46511400	Weak transcription	HSMMtube	muscle
12	chr11:46486200-46513200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:46486200-46525800	Weak transcription	Fetal Brain Female	brain
14	chr11:46486400-46507400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:46486400-46513600	Weak transcription	Esophagus	oesophagus
16	chr11:46486600-46518800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:46487000-46511400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:46487400-46503800	Weak transcription	Fetal Lung	lung
19	chr11:46487400-46514200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:46487600-46507200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:46487600-46507400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:46487600-46513600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:46487600-46514200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:46487600-46515000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:46487800-46508000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:46488000-46511400	Weak transcription	Gastric	stomach
27	chr11:46488200-46501800	Weak transcription	Brain Substantia Nigra	brain
28	chr11:46488200-46513400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:46488200-46515000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:46489600-46511000	Weak transcription	Colon Smooth Muscle	Colon
31	chr11:46489600-46512000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:46489800-46503800	Weak transcription	Thymus	Thymus
33	chr11:46490000-46500800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr11:46490000-46501200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr11:46490000-46503800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr11:46490000-46503800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr11:46490000-46507000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:46490000-46511200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:46490000-46512000	Weak transcription	Adipose Nuclei	Adipose
40	chr11:46490000-46512400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr11:46490200-46503600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr11:46490200-46511200	Weak transcription	Placenta	Placenta
43	chr11:46490200-46525800	Weak transcription	Aorta	Aorta
44	chr11:46490400-46511200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:46490600-46504800	Weak transcription	Fetal Stomach	stomach
46	chr11:46490600-46511200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr11:46490800-46504200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:46492800-46511400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:46492800-46511400	Weak transcription	HSMM	muscle
50	chr11:46492800-46513400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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