Variant report

Variant	rs12955161
Chromosome Location	chr18:12542121-12542122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12541118..12543753-chr18:12550923..12553850,2	MCF-7	breast:
2	chr18:12540364..12542429-chr18:12655156..12657959,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134278	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10445428	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11080582	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11080583	0.94[ASN][1000 genomes]
rs11080584	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11664861	0.81[ASN][1000 genomes]
rs11664914	0.81[ASN][1000 genomes]
rs11664917	0.81[ASN][1000 genomes]
rs12455093	0.89[ASN][1000 genomes]
rs12455536	0.89[ASN][1000 genomes]
rs12455909	0.83[ASN][1000 genomes]
rs12457903	0.99[ASN][1000 genomes]
rs12604385	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12604400	0.90[ASN][1000 genomes]
rs12605240	0.84[ASN][1000 genomes]
rs12605392	0.81[ASN][1000 genomes]
rs12606506	0.87[ASN][1000 genomes]
rs12709540	0.86[ASN][1000 genomes]
rs12953406	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12954614	0.88[ASN][1000 genomes]
rs12955490	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12956385	0.90[ASN][1000 genomes]
rs12956885	0.80[ASN][1000 genomes]
rs12957151	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12957688	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12959015	0.87[ASN][1000 genomes]
rs12961695	0.89[ASN][1000 genomes]
rs12961966	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12962476	0.83[ASN][1000 genomes]
rs12963179	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12963325	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12964660	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12965094	0.87[ASN][1000 genomes]
rs12970025	0.80[ASN][1000 genomes]
rs12970174	0.92[ASN][1000 genomes]
rs1893193	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1940974	0.84[ASN][1000 genomes]
rs28496036	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28582228	0.80[ASN][1000 genomes]
rs28886423	0.83[ASN][1000 genomes]
rs34072260	0.87[ASN][1000 genomes]
rs34178879	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34456643	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34814556	0.89[ASN][1000 genomes]
rs34899007	0.87[ASN][1000 genomes]
rs35122110	0.85[ASN][1000 genomes]
rs35449211	0.85[ASN][1000 genomes]
rs35630805	0.82[ASN][1000 genomes]
rs35963756	0.94[ASN][1000 genomes]
rs4389196	0.83[ASN][1000 genomes]
rs4493131	0.86[ASN][1000 genomes]
rs55749182	0.94[ASN][1000 genomes]
rs58215411	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60505421	0.96[ASN][1000 genomes]
rs62097094	0.88[ASN][1000 genomes]
rs62097102	0.92[ASN][1000 genomes]
rs62097103	0.90[ASN][1000 genomes]
rs62097126	0.84[ASN][1000 genomes]
rs62097148	0.82[ASN][1000 genomes]
rs67268432	0.94[ASN][1000 genomes]
rs722708	0.89[ASN][1000 genomes]
rs7234697	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs723836	0.86[ASN][1000 genomes]
rs7242395	0.85[ASN][1000 genomes]
rs755020	0.81[ASN][1000 genomes]
rs755021	0.81[ASN][1000 genomes]
rs8086094	0.81[ASN][1000 genomes]
rs8087885	0.85[ASN][1000 genomes]
rs8089081	0.85[ASN][1000 genomes]
rs8089619	0.94[ASN][1000 genomes]
rs8093129	0.80[ASN][1000 genomes]
rs8093571	0.84[ASN][1000 genomes]
rs948301	0.81[ASN][1000 genomes]
rs948302	0.81[ASN][1000 genomes]
rs9675543	0.81[ASN][1000 genomes]
rs9945339	0.80[ASN][1000 genomes]
rs9947738	0.80[ASN][1000 genomes]
rs9951147	0.84[ASN][1000 genomes]
rs9959759	0.84[ASN][1000 genomes]
rs9961851	0.82[ASN][1000 genomes]
rs9964759	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	esv2756075	chr18:12481377-12548970	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12478800-12551800	Weak transcription	Pancreas	Pancrea
2	chr18:12492200-12548600	Weak transcription	Fetal Kidney	kidney
3	chr18:12493200-12551800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr18:12511400-12551800	Weak transcription	Lung	lung
5	chr18:12516000-12553200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr18:12516600-12555000	Weak transcription	Aorta	Aorta
7	chr18:12518600-12551800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:12520800-12543400	Weak transcription	Osteobl	bone
9	chr18:12520800-12551800	Weak transcription	Colon Smooth Muscle	Colon
10	chr18:12520800-12552000	Weak transcription	NHLF	lung
11	chr18:12521000-12542200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr18:12521000-12552200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr18:12530600-12551600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr18:12533200-12542400	Weak transcription	Fetal Heart	heart
15	chr18:12533200-12551800	Weak transcription	HSMMtube	muscle
16	chr18:12533600-12543200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr18:12534000-12551800	Weak transcription	Fetal Brain Male	brain
18	chr18:12534600-12551600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr18:12535000-12544600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr18:12535200-12543400	Weak transcription	HSMM	muscle
21	chr18:12540800-12542200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr18:12541000-12551800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr18:12541000-12552000	Weak transcription	Gastric	stomach
24	chr18:12541400-12542400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr18:12541400-12543400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
26	chr18:12541400-12553000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr18:12541600-12543400	Weak transcription	HMEC	breast
28	chr18:12542000-12542200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr18:12542000-12542400	ZNF genes & repeats	Ovary	ovary
30	chr18:12542000-12543600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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