Variant report

Variant	rs73105363
Chromosome Location	chr5:60603161-60603162
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60603025..60605964-chr5:60611139..60612666,2	MCF-7	breast:
2	chr5:60456737..60461436-chr5:60596585..60603587,8	MCF-7	breast:
3	chr5:60595162..60604481-chr5:60621758..60631019,20	MCF-7	breast:
4	chr5:60600486..60603584-chr5:60608249..60610212,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251279	Chromatin interaction
ENSG00000130449	Chromatin interaction
ENSG00000188725	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10044518	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10044575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188621	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12188882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28685817	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4256302	0.90[ASN][1000 genomes]
rs4323189	0.90[ASN][1000 genomes]
rs4382119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4452517	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59628996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73105361	0.94[EUR][1000 genomes];0.90[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	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv823089	chr5:60589501-60669903	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60597000-60605000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:60598200-60606600	Weak transcription	Lung	lung
3	chr5:60599400-60603200	Enhancers	Fetal Intestine Large	intestine
4	chr5:60599400-60603400	Enhancers	Placenta	Placenta
5	chr5:60600000-60603200	Enhancers	Stomach Mucosa	stomach
6	chr5:60600600-60605200	Enhancers	NHLF	lung
7	chr5:60600600-60609800	Weak transcription	Ovary	ovary
8	chr5:60600800-60603200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr5:60600800-60615800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:60601000-60606800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:60601200-60604600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:60601400-60603800	Enhancers	Hela-S3	cervix
13	chr5:60601400-60604400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:60601600-60603400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:60601600-60603800	Enhancers	NHEK	skin
16	chr5:60602000-60603200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:60602000-60603800	Enhancers	Fetal Intestine Small	intestine
18	chr5:60602000-60605000	Enhancers	NH-A	brain
19	chr5:60602200-60603200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:60602200-60603200	Enhancers	Fetal Lung	lung
21	chr5:60602200-60603200	Flanking Active TSS	A549	lung
22	chr5:60602200-60603400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr5:60602200-60603800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:60602200-60603800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr5:60602200-60604400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:60602200-60605200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:60602400-60603200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:60602400-60603200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:60602400-60603200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:60602400-60603200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr5:60602400-60603200	Flanking Active TSS	NHDF-Ad	bronchial
32	chr5:60602400-60603200	Flanking Active TSS	Osteobl	bone
33	chr5:60602400-60605200	Enhancers	HSMM	muscle
34	chr5:60602800-60604600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:60602800-60606800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:60602800-60608200	Weak transcription	HMEC	breast
37	chr5:60603000-60603600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:60603000-60603600	Enhancers	GM12878-XiMat	blood
39	chr5:60603000-60607800	Weak transcription	HSMMtube	muscle
40	chr5:60603000-60608200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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