Variant report

Variant	rs6870349
Chromosome Location	chr5:60607134-60607135
allele	A/G
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:
5	chr5:60464941..60466921-chr5:60605078..60607461,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251279	Chromatin interaction
ENSG00000188725	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10939897	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10939898	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11743133	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11747144	0.92[CEU][hapmap];0.92[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11960587	0.93[CEU][hapmap];0.98[EUR][1000 genomes]
rs13154581	0.93[CEU][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs13154663	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13156118	0.93[CEU][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13162866	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13164720	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13171223	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13174916	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13178686	0.85[CEU][hapmap]
rs13182603	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34323293	0.81[EUR][1000 genomes]
rs4409043	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4513641	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4544785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62366236	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6449526	0.87[CEU][hapmap];0.87[CHD][hapmap]
rs6449527	0.81[CEU][hapmap];0.87[CHD][hapmap]
rs6860599	0.86[CEU][hapmap]
rs6867278	0.81[CEU][hapmap]
rs6881622	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6889338	0.81[CEU][hapmap]
rs7704636	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[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:35 , 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	chr5:60603200-60607200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:60603200-60609800	Weak transcription	Fetal Lung	lung
8	chr5:60603200-60609800	Weak transcription	Stomach Mucosa	stomach
9	chr5:60603600-60607800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:60603800-60607600	Weak transcription	Osteobl	bone
11	chr5:60603800-60608200	Weak transcription	NHEK	skin
12	chr5:60603800-60609200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr5:60603800-60609600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:60605000-60607200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr5:60605000-60608000	Weak transcription	NH-A	brain
16	chr5:60605200-60607200	Weak transcription	NHLF	lung
17	chr5:60605200-60607400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:60605200-60609800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:60605200-60609800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:60605400-60607800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:60605400-60607800	Weak transcription	NHDF-Ad	bronchial
22	chr5:60606600-60607600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:60606600-60607600	Enhancers	Lung	lung
24	chr5:60606600-60607800	Enhancers	A549	lung
25	chr5:60606600-60610400	Enhancers	Placenta	Placenta
26	chr5:60606600-60610800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:60606600-60611200	Enhancers	Hela-S3	cervix
28	chr5:60606600-60611400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:60606600-60611800	Enhancers	HSMM	muscle
30	chr5:60606800-60607200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:60606800-60607200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:60606800-60607400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:60606800-60607600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:60606800-60608800	Enhancers	Stomach Smooth Muscle	stomach
35	chr5:60607000-60607400	Enhancers	Placenta Amnion	Placenta Amnion

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