Variant report

Variant	rs7341022
Chromosome Location	chr5:15014182-15014183
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:14398957..14399842-chr5:15013870..15014661,2	MCF-7	breast:
2	chr5:14685519..14686385-chr5:15013737..15014695,6	MCF-7	breast:
3	chr5:14727153..14728136-chr5:15013682..15014686,8	MCF-7	breast:
4	chr5:14727225..14728004-chr5:15013759..15014615,2	MCF-7	breast:
5	chr5:14727116..14728426-chr5:15013298..15014619,7	K562	blood:
6	chr5:15003270..15003818-chr5:15013871..15014387,2	K562	blood:
7	chr5:14946879..14947508-chr5:15013777..15014301,2	MCF-7	breast:
8	chr5:15003279..15004151-chr5:15013861..15014603,2	MCF-7	breast:
9	chr5:15009092..15011088-chr5:15012491..15014313,2	K562	blood:
10	chr5:14663710..14667318-chr5:15013208..15015623,3	MCF-7	breast:
11	chr5:15013716..15014586-chr5:15995299..15996216,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000154124	Chromatin interaction
ENSG00000261360	Chromatin interaction
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10043444	0.86[EUR][1000 genomes]
rs10044822	0.98[ASN][1000 genomes]
rs10044904	0.96[ASN][1000 genomes]
rs10044907	0.98[ASN][1000 genomes]
rs10044908	0.98[ASN][1000 genomes]
rs10067400	0.86[ASN][1000 genomes]
rs10513194	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10866509	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11741614	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11744215	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11750471	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13357328	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16903773	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16903776	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16903778	0.97[ASN][1000 genomes]
rs5010555	0.86[EUR][1000 genomes]
rs5010556	0.86[EUR][1000 genomes]
rs57219003	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59356093	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62356077	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62356081	0.82[EUR][1000 genomes]
rs62356082	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6554868	0.86[EUR][1000 genomes]
rs6859541	0.84[ASN][1000 genomes]
rs6862081	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6864877	0.96[ASN][1000 genomes]
rs6866660	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6867275	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6877954	0.97[ASN][1000 genomes]
rs6878138	0.95[ASN][1000 genomes]
rs6878288	0.97[ASN][1000 genomes]
rs6878430	0.97[ASN][1000 genomes]
rs6881461	0.87[EUR][1000 genomes]
rs6888138	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73053946	0.96[ASN][1000 genomes]
rs73053947	0.96[ASN][1000 genomes]
rs73053951	0.97[ASN][1000 genomes]
rs73053957	0.97[ASN][1000 genomes]
rs7341067	0.95[ASN][1000 genomes]
rs7341168	0.97[ASN][1000 genomes]
rs7708423	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7708528	0.94[CEU][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7715918	0.87[EUR][1000 genomes]
rs7716510	0.87[EUR][1000 genomes]
rs7727180	0.86[EUR][1000 genomes]
rs7727670	0.86[EUR][1000 genomes]
rs9312876	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9686327	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9687138	0.86[EUR][1000 genomes]
rs9687144	0.86[EUR][1000 genomes]
rs9687159	0.86[EUR][1000 genomes]
rs9687484	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9688320	0.86[EUR][1000 genomes]
rs9688328	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv530221	chr5:14859687-15364470	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv432717	chr5:14887400-15126500	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1017579	chr5:14888997-15194335	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv461982	chr5:14943456-15044842	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv597262	chr5:14943456-15044842	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv470991	chr5:14949696-15022112	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv524142	chr5:14986700-15018537	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15009400-15015200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:15009400-15020800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:15009800-15014800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:15009800-15015000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:15009800-15021000	Weak transcription	Aorta	Aorta
6	chr5:15010000-15014200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:15010000-15014200	Weak transcription	HSMMtube	muscle
8	chr5:15010000-15014800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:15010000-15014800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:15010000-15014800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:15010000-15014800	Weak transcription	HSMM	muscle
12	chr5:15010000-15014800	Weak transcription	NHEK	skin
13	chr5:15010000-15015000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:15010400-15015000	Weak transcription	HMEC	breast
15	chr5:15012600-15014800	Enhancers	HepG2	liver
16	chr5:15013000-15014800	Enhancers	A549	lung
17	chr5:15013600-15014200	Enhancers	NHDF-Ad	bronchial
18	chr5:15013600-15015200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:15013600-15016400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:15013600-15016600	Enhancers	Osteobl	bone
21	chr5:15013800-15015000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:15013800-15015200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:15013800-15015200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:15013800-15015600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:15013800-15015600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:15013800-15015600	Enhancers	Liver	Liver
27	chr5:15013800-15015600	Enhancers	NH-A	brain
28	chr5:15013800-15015800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:15013800-15016200	Enhancers	Fetal Heart	heart
30	chr5:15014000-15014800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:15014000-15014800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:15014000-15015200	Weak transcription	Stomach Mucosa	stomach

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