Variant report

Variant	rs11750471
Chromosome Location	chr5:15012853-15012854
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:15009092..15011088-chr5:15012491..15014313,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11741614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446041	1.00[ASN][1000 genomes]
rs1502037	1.00[ASN][1000 genomes]
rs1502038	1.00[ASN][1000 genomes]
rs16903773	0.81[EUR][1000 genomes]
rs16903776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17342417	1.00[ASN][1000 genomes]
rs2455490	1.00[ASN][1000 genomes]
rs251538	1.00[ASN][1000 genomes]
rs2652759	1.00[ASN][1000 genomes]
rs2652761	1.00[ASN][1000 genomes]
rs28287	1.00[ASN][1000 genomes]
rs301080	1.00[ASN][1000 genomes]
rs32440	1.00[ASN][1000 genomes]
rs32445	1.00[ASN][1000 genomes]
rs32451	1.00[ASN][1000 genomes]
rs32452	1.00[ASN][1000 genomes]
rs32453	1.00[ASN][1000 genomes]
rs32454	1.00[ASN][1000 genomes]
rs32455	1.00[ASN][1000 genomes]
rs32456	1.00[ASN][1000 genomes]
rs32463	1.00[ASN][1000 genomes]
rs32464	1.00[ASN][1000 genomes]
rs32466	1.00[ASN][1000 genomes]
rs32467	1.00[ASN][1000 genomes]
rs62356079	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62356080	1.00[ASN][1000 genomes]
rs62356081	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62356082	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862081	0.81[AMR][1000 genomes]
rs6866660	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6867275	0.81[EUR][1000 genomes]
rs6868543	1.00[ASN][1000 genomes]
rs6873180	1.00[ASN][1000 genomes]
rs6881461	0.81[AMR][1000 genomes]
rs6888138	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7341022	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7708423	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7708528	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7727179	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs836147	1.00[ASN][1000 genomes]
rs836148	1.00[ASN][1000 genomes]
rs836149	1.00[ASN][1000 genomes]
rs856751	1.00[ASN][1000 genomes]
rs863162	1.00[ASN][1000 genomes]
rs9686327	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9687484	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15009400-15013800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:15009400-15015200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:15009400-15020800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:15009800-15013600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:15009800-15013600	Weak transcription	NHDF-Ad	bronchial
6	chr5:15009800-15013800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:15009800-15014800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:15009800-15015000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:15009800-15021000	Weak transcription	Aorta	Aorta
10	chr5:15010000-15013600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:15010000-15013800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:15010000-15013800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:15010000-15013800	Weak transcription	Fetal Heart	heart
14	chr5:15010000-15013800	Weak transcription	NH-A	brain
15	chr5:15010000-15014200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:15010000-15014200	Weak transcription	HSMMtube	muscle
17	chr5:15010000-15014800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:15010000-15014800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:15010000-15014800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:15010000-15014800	Weak transcription	HSMM	muscle
21	chr5:15010000-15014800	Weak transcription	NHEK	skin
22	chr5:15010000-15015000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr5:15010400-15013800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:15010400-15015000	Weak transcription	HMEC	breast
25	chr5:15010600-15013600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:15010600-15013800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:15011200-15013600	Weak transcription	Osteobl	bone
28	chr5:15011200-15013800	Weak transcription	Liver	Liver
29	chr5:15011400-15013600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:15011400-15013800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:15011400-15013800	Weak transcription	Stomach Mucosa	stomach
32	chr5:15012000-15013000	Weak transcription	A549	lung
33	chr5:15012600-15014800	Enhancers	HepG2	liver

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