Variant report

Variant	rs9948505
Chromosome Location	chr18:12606809-12606810
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12604320..12607057-chr18:12650653..12653511,2	MCF-7	breast:
2	chr18:12596844..12599084-chr18:12603896..12607483,3	K562	blood:
3	chr18:12601083..12604521-chr18:12605372..12609062,5	MCF-7	breast:
4	chr18:12604800..12607453-chr18:12610712..12612678,2	MCF-7	breast:
5	chr18:12604251..12607235-chr18:12656696..12659303,2	MCF-7	breast:
6	chr18:12601660..12604327-chr18:12604536..12607212,2	K562	blood:

Variant related genes	Relation type
ENSG00000134278	Chromatin interaction
ENSG00000215527	Chromatin interaction
ENSG00000128789	Chromatin interaction

Extended variants
information (count: 139 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10401097	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11080583	0.80[ASN][1000 genomes]
rs11080584	0.81[ASN][1000 genomes]
rs11080585	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11080586	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11080590	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11659510	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11659854	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11663958	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11664404	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11664765	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11664861	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11664914	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11664917	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11664927	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11664936	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11665543	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12326271	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12454931	0.89[ASN][1000 genomes]
rs12455093	0.80[ASN][1000 genomes]
rs12455536	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12455892	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12455909	0.93[ASN][1000 genomes]
rs12604184	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12604385	0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12604400	0.85[ASN][1000 genomes]
rs12604402	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12604541	0.89[ASN][1000 genomes]
rs12605240	0.92[ASN][1000 genomes]
rs12605392	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12606465	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12606482	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12606506	0.86[ASN][1000 genomes]
rs12709540	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12953578	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12954614	0.83[ASN][1000 genomes]
rs12956133	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12956385	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12956885	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12957048	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12957151	0.88[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12957688	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12958200	0.89[ASN][1000 genomes]
rs12959015	0.86[ASN][1000 genomes]
rs12960150	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12961695	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12962476	0.93[ASN][1000 genomes]
rs12963179	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12963325	0.90[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12965094	0.86[ASN][1000 genomes]
rs12969567	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12970025	0.90[ASN][1000 genomes]
rs12970174	0.83[ASN][1000 genomes]
rs1864532	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1893193	0.88[ASN][1000 genomes]
rs1940974	0.92[ASN][1000 genomes]
rs1940975	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2155698	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2186907	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28414067	0.89[ASN][1000 genomes]
rs28457089	0.87[ASN][1000 genomes]
rs28496036	0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs28582228	0.90[ASN][1000 genomes]
rs28647784	0.81[ASN][1000 genomes]
rs28886423	0.93[ASN][1000 genomes]
rs34072260	0.86[ASN][1000 genomes]
rs34456643	0.80[ASN][1000 genomes]
rs34814556	0.87[ASN][1000 genomes]
rs34899007	0.86[ASN][1000 genomes]
rs35122110	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35449211	0.86[ASN][1000 genomes]
rs35630805	0.91[ASN][1000 genomes]
rs4389196	0.93[ASN][1000 genomes]
rs4493131	0.82[ASN][1000 genomes]
rs4627434	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4629035	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55749182	0.80[ASN][1000 genomes]
rs62097094	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs62097102	0.83[ASN][1000 genomes]
rs62097103	0.84[ASN][1000 genomes]
rs62097126	0.92[ASN][1000 genomes]
rs62097148	0.91[ASN][1000 genomes]
rs62097149	0.89[ASN][1000 genomes]
rs62097152	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62097153	0.89[ASN][1000 genomes]
rs67045810	0.89[ASN][1000 genomes]
rs70964152	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs722708	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7234697	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7237732	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7238080	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs723836	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7238546	0.89[ASN][1000 genomes]
rs7242395	0.85[ASN][1000 genomes]
rs7504857	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs755020	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs755021	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8086094	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8087885	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8088786	0.89[ASN][1000 genomes]
rs8089081	0.84[ASN][1000 genomes]
rs8089115	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8089619	0.80[ASN][1000 genomes]
rs8093129	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8093532	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8093571	0.83[ASN][1000 genomes]
rs8094172	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs8095160	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8096455	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9303772	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9303773	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs948301	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs948302	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs948303	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9675543	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9710023	0.80[ASN][1000 genomes]
rs9945339	0.90[ASN][1000 genomes]
rs9947738	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9948618	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9949582	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9951147	0.92[ASN][1000 genomes]
rs9954054	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9954419	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9958409	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9958666	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9959759	0.92[ASN][1000 genomes]
rs9960824	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9961851	0.90[ASN][1000 genomes]
rs9964759	0.91[ASN][1000 genomes]
rs9965123	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9967123	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9989496	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9989506	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9989568	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12597800-12610800	Weak transcription	Right Ventricle	heart
2	chr18:12597800-12634600	Weak transcription	Aorta	Aorta
3	chr18:12598000-12607000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr18:12598000-12607200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr18:12598000-12610000	Weak transcription	Lung	lung
6	chr18:12598600-12608600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr18:12598800-12607000	Weak transcription	Brain Angular Gyrus	brain
8	chr18:12598800-12609000	Weak transcription	Right Atrium	heart
9	chr18:12599800-12607000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr18:12600000-12607400	Weak transcription	Pancreas	Pancrea
11	chr18:12600200-12607000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr18:12600400-12607000	Weak transcription	NHLF	lung
13	chr18:12600400-12608600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr18:12602200-12609200	Weak transcription	Fetal Brain Male	brain
15	chr18:12602200-12638400	Weak transcription	Fetal Brain Female	brain
16	chr18:12602800-12611200	Weak transcription	Spleen	Spleen
17	chr18:12603000-12607000	Weak transcription	Fetal Heart	heart
18	chr18:12604600-12607000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr18:12604800-12610800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr18:12605600-12608200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr18:12605800-12607200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr18:12605800-12607200	Enhancers	HUVEC	blood vessel
23	chr18:12605800-12607800	Enhancers	Primary hematopoietic stem cells	blood
24	chr18:12605800-12608200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr18:12605800-12609200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr18:12605800-12609600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr18:12605800-12609800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr18:12606000-12607200	Enhancers	Stomach Mucosa	stomach
29	chr18:12606000-12607200	Enhancers	NHEK	skin
30	chr18:12606000-12607400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr18:12606000-12608000	Enhancers	Left Ventricle	heart
32	chr18:12606000-12608200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr18:12606000-12610800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr18:12606000-12615600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr18:12606200-12607000	Enhancers	A549	lung
36	chr18:12606200-12607200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr18:12606200-12607400	Weak transcription	Esophagus	oesophagus
38	chr18:12606200-12610000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr18:12606200-12616200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr18:12606400-12607400	Enhancers	HSMMtube	muscle
41	chr18:12606400-12607600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr18:12606400-12607800	Enhancers	K562	blood
43	chr18:12606400-12609400	Enhancers	Osteobl	bone
44	chr18:12606400-12609600	Enhancers	HMEC	breast
45	chr18:12606600-12607000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr18:12606600-12607000	Enhancers	Gastric	stomach
47	chr18:12606600-12608800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr18:12606600-12609200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr18:12606600-12611600	Enhancers	HepG2	liver
50	chr18:12606800-12607000	Enhancers	Duodenum Smooth Muscle	Duodenum

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