Variant report

Variant	rs11665543
Chromosome Location	chr18:12596978-12596979
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12595958..12597985-chr18:12607168..12608800,2	MCF-7	breast:
2	chr18:12596375..12597992-chr18:12655323..12658248,2	MCF-7	breast:
3	chr18:12594070..12599084-chr18:12599553..12605396,7	K562	blood:
4	chr18:12590720..12592550-chr18:12594454..12597445,2	MCF-7	breast:
5	chr18:12596844..12599084-chr18:12603896..12607483,3	K562	blood:
6	chr18:12595174..12598244-chr18:12625042..12627627,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134278	Chromatin interaction
ENSG00000215527	Chromatin interaction

Extended variants
information (count: 149 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:144)

rs_ID	r²[population]
rs10401097	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10445428	0.81[ASN][1000 genomes]
rs11080582	0.81[ASN][1000 genomes]
rs11080583	0.82[ASN][1000 genomes]
rs11080584	0.82[ASN][1000 genomes]
rs11080585	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11080586	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11080590	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11659510	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11659854	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11663958	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11664404	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11664765	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11664861	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11664914	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11664917	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11664927	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11664936	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12326271	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12454931	0.91[ASN][1000 genomes]
rs12455093	0.82[ASN][1000 genomes]
rs12455536	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12455892	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12455909	0.94[ASN][1000 genomes]
rs12604184	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12604385	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12604400	0.86[ASN][1000 genomes]
rs12604402	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12604541	0.91[ASN][1000 genomes]
rs12605240	0.94[ASN][1000 genomes]
rs12605392	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12606465	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12606482	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12606506	0.88[ASN][1000 genomes]
rs12709540	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12953406	0.81[ASN][1000 genomes]
rs12953578	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12954614	0.85[ASN][1000 genomes]
rs12956133	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12956385	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12956885	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12957048	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12957151	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12957688	0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12958200	0.91[ASN][1000 genomes]
rs12959015	0.88[ASN][1000 genomes]
rs12960150	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12961695	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12961966	0.81[ASN][1000 genomes]
rs12962476	0.94[ASN][1000 genomes]
rs12963179	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12963325	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12965094	0.88[ASN][1000 genomes]
rs12969567	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12970025	0.92[ASN][1000 genomes]
rs12970174	0.84[ASN][1000 genomes]
rs1864532	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1893193	0.89[ASN][1000 genomes]
rs1940974	0.94[ASN][1000 genomes]
rs1940975	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155698	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186907	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28414067	0.91[ASN][1000 genomes]
rs28457089	0.88[ASN][1000 genomes]
rs28496036	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs28582228	0.92[ASN][1000 genomes]
rs28647784	0.82[ASN][1000 genomes]
rs28886423	0.94[ASN][1000 genomes]
rs34072260	0.88[ASN][1000 genomes]
rs34178879	0.81[ASN][1000 genomes]
rs34456643	0.82[ASN][1000 genomes]
rs34814556	0.88[ASN][1000 genomes]
rs34899007	0.88[ASN][1000 genomes]
rs35122110	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35449211	0.87[ASN][1000 genomes]
rs35630805	0.93[ASN][1000 genomes]
rs35963756	0.81[ASN][1000 genomes]
rs4389196	0.94[ASN][1000 genomes]
rs4493131	0.83[ASN][1000 genomes]
rs4627434	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4629035	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55749182	0.82[ASN][1000 genomes]
rs58215411	0.80[ASN][1000 genomes]
rs60505421	0.80[ASN][1000 genomes]
rs62097094	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62097102	0.84[ASN][1000 genomes]
rs62097103	0.86[ASN][1000 genomes]
rs62097126	0.94[ASN][1000 genomes]
rs62097148	0.93[ASN][1000 genomes]
rs62097149	0.90[ASN][1000 genomes]
rs62097152	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62097153	0.91[ASN][1000 genomes]
rs67045810	0.91[ASN][1000 genomes]
rs67268432	0.81[ASN][1000 genomes]
rs70964152	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs722708	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7234697	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7237732	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7238080	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs723836	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7238546	0.91[ASN][1000 genomes]
rs7242395	0.86[ASN][1000 genomes]
rs7504857	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs755020	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs755021	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8086094	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8087885	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8088786	0.91[ASN][1000 genomes]
rs8089081	0.86[ASN][1000 genomes]
rs8089115	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8089619	0.82[ASN][1000 genomes]
rs8093129	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8093532	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8093571	0.85[ASN][1000 genomes]
rs8094172	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8095160	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8096455	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9303772	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9303773	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs948301	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs948302	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs948303	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9675543	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9710023	0.82[ASN][1000 genomes]
rs9945339	0.92[ASN][1000 genomes]
rs9947738	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9948505	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9948618	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9949582	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9951147	0.94[ASN][1000 genomes]
rs9954054	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9954419	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9958409	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9958666	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9959759	0.94[ASN][1000 genomes]
rs9960824	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9961705	0.81[ASN][1000 genomes]
rs9961851	0.92[ASN][1000 genomes]
rs9964759	0.93[ASN][1000 genomes]
rs9965123	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9967123	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9989496	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9989506	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9989568	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12589600-12597000	Weak transcription	Aorta	Aorta
2	chr18:12589800-12597200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr18:12589800-12597200	Weak transcription	Ovary	ovary
4	chr18:12589800-12597400	Weak transcription	Brain Angular Gyrus	brain
5	chr18:12590000-12597400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr18:12590800-12597200	Weak transcription	Fetal Brain Male	brain
7	chr18:12590800-12597800	Weak transcription	Pancreas	Pancrea
8	chr18:12590800-12599200	Weak transcription	Liver	Liver
9	chr18:12592400-12597600	Weak transcription	Colon Smooth Muscle	Colon
10	chr18:12592800-12597800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:12594200-12597600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr18:12594600-12600400	Enhancers	HepG2	liver
13	chr18:12595400-12597000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr18:12595400-12597000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr18:12595400-12597200	Enhancers	HSMMtube	muscle
16	chr18:12595400-12598200	Enhancers	Brain Anterior Caudate	brain
17	chr18:12595400-12599400	Enhancers	Fetal Heart	heart
18	chr18:12595400-12600400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr18:12595600-12597200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr18:12595600-12597200	Enhancers	HSMM	muscle
21	chr18:12595600-12597600	Enhancers	HUVEC	blood vessel
22	chr18:12595600-12598000	Enhancers	Brain Substantia Nigra	brain
23	chr18:12595600-12600400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr18:12595600-12600400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr18:12595600-12600600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr18:12595800-12598200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr18:12595800-12599000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr18:12595800-12600600	Enhancers	HMEC	breast
29	chr18:12596000-12597000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr18:12596000-12597000	Enhancers	K562	blood
31	chr18:12596000-12597400	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr18:12596000-12597600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr18:12596000-12598000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr18:12596000-12599200	Enhancers	Fetal Lung	lung
35	chr18:12596000-12599600	Enhancers	Fetal Kidney	kidney
36	chr18:12596200-12597000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr18:12596200-12597400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr18:12596200-12597400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr18:12596200-12599200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:12596400-12597000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr18:12596600-12597200	Enhancers	A549	lung
42	chr18:12596600-12597400	Enhancers	Hela-S3	cervix
43	chr18:12596600-12597400	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr18:12596600-12597800	Enhancers	Primary hematopoietic stem cells	blood
45	chr18:12596600-12600000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr18:12596800-12597000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr18:12596800-12597000	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr18:12596800-12597000	Enhancers	Gastric	stomach
49	chr18:12596800-12597200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr18:12596800-12597200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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