Variant report

Variant	rs11747144
Chromosome Location	chr5:60607678-60607679
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60607093..60609330-chr5:60616167..60617939,2	MCF-7	breast:
2	chr5:60457106..60459969-chr5:60606928..60608823,2	MCF-7	breast:
3	chr5:60605123..60607843-chr5:60623875..60626572,3	MCF-7	breast:
4	chr5:60596572..60599250-chr5:60605731..60609279,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251279	Chromatin interaction
ENSG00000188725	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10939897	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10939898	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11743133	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11960587	0.85[CEU][hapmap];0.98[EUR][1000 genomes]
rs13154581	0.84[CEU][hapmap];0.91[EUR][1000 genomes]
rs13154663	0.92[CEU][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13156118	0.85[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13162866	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13164720	1.00[CEU][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13171223	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13174916	0.86[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13182603	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34323293	0.81[EUR][1000 genomes]
rs4409043	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4513641	1.00[CEU][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4544785	0.92[CEU][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62366236	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6449526	0.93[CEU][hapmap]
rs6449527	0.86[CEU][hapmap]
rs6860599	0.92[CEU][hapmap]
rs6867278	0.86[CEU][hapmap]
rs6870349	0.92[CEU][hapmap];0.92[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881622	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6889338	0.86[CEU][hapmap]
rs7704636	0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60600600-60609800	Weak transcription	Ovary	ovary
2	chr5:60600800-60615800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:60602800-60608200	Weak transcription	HMEC	breast
4	chr5:60603000-60607800	Weak transcription	HSMMtube	muscle
5	chr5:60603000-60608200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:60603200-60609800	Weak transcription	Fetal Lung	lung
7	chr5:60603200-60609800	Weak transcription	Stomach Mucosa	stomach
8	chr5:60603600-60607800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:60603800-60608200	Weak transcription	NHEK	skin
10	chr5:60603800-60609200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr5:60603800-60609600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:60605000-60608000	Weak transcription	NH-A	brain
13	chr5:60605200-60609800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:60605200-60609800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:60605400-60607800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:60605400-60607800	Weak transcription	NHDF-Ad	bronchial
17	chr5:60606600-60607800	Enhancers	A549	lung
18	chr5:60606600-60610400	Enhancers	Placenta	Placenta
19	chr5:60606600-60610800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:60606600-60611200	Enhancers	Hela-S3	cervix
21	chr5:60606600-60611400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:60606600-60611800	Enhancers	HSMM	muscle
23	chr5:60606800-60608800	Enhancers	Stomach Smooth Muscle	stomach
24	chr5:60607200-60608000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:60607200-60608400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:60607200-60610200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr5:60607200-60610200	Enhancers	HUVEC	blood vessel
28	chr5:60607200-60611800	Enhancers	NHLF	lung
29	chr5:60607400-60608400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:60607400-60608800	Enhancers	Colon Smooth Muscle	Colon
31	chr5:60607400-60609800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr5:60607400-60610200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:60607600-60607800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:60607600-60607800	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr5:60607600-60609400	Weak transcription	Lung	lung
36	chr5:60607600-60609800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:60607600-60610600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:60607600-60611400	Enhancers	Osteobl	bone

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