Variant report

Variant	rs361227
Chromosome Location	chr3:136742300-136742301
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:136580222..136582633-chr3:136740948..136742731,2	MCF-7	breast:
2	chr3:136470071..136471591-chr3:136741187..136743880,2	K562	blood:
3	chr3:136740086..136742353-chr3:136744519..136746885,2	K562	blood:
4	chr3:136740086..136742353-chr3:136744519..136747302,3	K562	blood:

Variant related genes	Relation type
ENSG00000239213	Chromatin interaction
ENSG00000118007	Chromatin interaction
ENSG00000158092	Chromatin interaction
ENSG00000261758	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs108858	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11711599	0.82[ASN][1000 genomes]
rs13095034	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1385306	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470142	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1654900	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1654901	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1682361	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1682362	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1682363	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1682364	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1682365	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1682366	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs171519	0.82[ASN][1000 genomes]
rs181732	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs183120	0.82[ASN][1000 genomes]
rs2086880	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2117008	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2344092	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34564994	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs361228	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361229	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs361231	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs361232	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs361233	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs361234	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs361235	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs361238	0.82[ASN][1000 genomes]
rs361240	0.82[ASN][1000 genomes]
rs361249	0.82[ASN][1000 genomes]
rs361253	0.82[ASN][1000 genomes]
rs4678278	0.89[EUR][1000 genomes]
rs4678281	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55781515	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6439677	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6439678	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6766766	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6766858	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6802479	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71620537	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs754694	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7640951	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7646307	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs835627	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835628	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs835629	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835630	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835631	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835651	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs835652	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs900947	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs900948	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs900949	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs900950	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9681468	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9817061	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9827066	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9845076	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9850024	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9854795	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9874615	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9875855	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs999038	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv877534	chr3:136676303-136765859	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv524856	chr3:136693459-137190765	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1012111	chr3:136695367-137343430	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136733400-136742400	Weak transcription	Esophagus	oesophagus
2	chr3:136733600-136742400	Weak transcription	HSMM	muscle
3	chr3:136738400-136748600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:136741200-136743600	Weak transcription	NHEK	skin
5	chr3:136741400-136743400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:136741400-136743400	Enhancers	Liver	Liver
7	chr3:136741800-136743000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:136742000-136742400	Enhancers	HSMMtube	muscle
9	chr3:136742000-136743600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:136742000-136743800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:136742200-136742400	Enhancers	Fetal Muscle Leg	muscle
12	chr3:136742200-136742600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr3:136742200-136742800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:136742200-136742800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr3:136742200-136742800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr3:136742200-136742800	Flanking Active TSS	HepG2	liver
17	chr3:136742200-136742800	Enhancers	Osteobl	bone
18	chr3:136742200-136743000	Enhancers	Adipose Nuclei	Adipose
19	chr3:136742200-136746000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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