Variant report

Variant	rs11743767
Chromosome Location	chr5:112581139-112581140
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10428666	0.84[EUR][1000 genomes]
rs10519343	0.92[EUR][1000 genomes]
rs10519346	0.92[EUR][1000 genomes]
rs11241197	0.92[EUR][1000 genomes]
rs11740190	0.92[EUR][1000 genomes]
rs11740233	0.92[EUR][1000 genomes]
rs11740318	0.92[EUR][1000 genomes]
rs11740353	0.92[EUR][1000 genomes]
rs11740443	0.92[EUR][1000 genomes]
rs11741794	0.92[EUR][1000 genomes]
rs11741937	0.89[EUR][1000 genomes]
rs11746532	0.92[EUR][1000 genomes]
rs11746791	0.92[EUR][1000 genomes]
rs11748058	0.92[EUR][1000 genomes]
rs11748465	0.92[EUR][1000 genomes]
rs11748503	0.84[EUR][1000 genomes]
rs11748524	0.92[EUR][1000 genomes]
rs11749864	0.92[EUR][1000 genomes]
rs12186466	0.89[EUR][1000 genomes]
rs12188069	0.89[EUR][1000 genomes]
rs12188070	0.89[EUR][1000 genomes]
rs12188230	0.92[EUR][1000 genomes]
rs12521391	0.94[EUR][1000 genomes]
rs12522683	0.94[EUR][1000 genomes]
rs12522862	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12523027	0.92[EUR][1000 genomes]
rs12523284	0.89[EUR][1000 genomes]
rs17135454	0.94[EUR][1000 genomes]
rs17135463	0.94[EUR][1000 genomes]
rs17135506	0.92[EUR][1000 genomes]
rs17135507	0.92[EUR][1000 genomes]
rs17135514	0.92[EUR][1000 genomes]
rs17135515	0.92[EUR][1000 genomes]
rs17135517	0.92[EUR][1000 genomes]
rs17135519	0.92[EUR][1000 genomes]
rs17135520	0.92[EUR][1000 genomes]
rs17135526	0.92[EUR][1000 genomes]
rs17135531	0.92[EUR][1000 genomes]
rs17135546	0.89[EUR][1000 genomes]
rs17164185	0.94[EUR][1000 genomes]
rs1845289	0.92[EUR][1000 genomes]
rs1850410	0.89[EUR][1000 genomes]
rs1850411	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34271294	0.97[EUR][1000 genomes]
rs4632792	0.92[EUR][1000 genomes]
rs4705549	0.94[EUR][1000 genomes]
rs4705810	0.92[EUR][1000 genomes]
rs56294433	0.97[EUR][1000 genomes]
rs60437559	0.92[EUR][1000 genomes]
rs6594695	0.92[EUR][1000 genomes]
rs6594696	0.92[EUR][1000 genomes]
rs6594697	0.92[EUR][1000 genomes]
rs6879761	1.00[EUR][1000 genomes]
rs73244759	0.94[EUR][1000 genomes]
rs73244767	0.89[EUR][1000 genomes]
rs73244770	0.89[EUR][1000 genomes]
rs73244772	0.85[EUR][1000 genomes]
rs73246604	0.92[EUR][1000 genomes]
rs73246629	0.92[EUR][1000 genomes]
rs73246681	0.89[EUR][1000 genomes]
rs7703865	0.94[EUR][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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112548400-112581800	Weak transcription	Fetal Kidney	kidney
2	chr5:112557200-112585800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:112571000-112581400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:112572000-112581400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:112572400-112590400	Weak transcription	Liver	Liver
6	chr5:112572600-112585800	Weak transcription	Pancreas	Pancrea
7	chr5:112572800-112581800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:112575000-112581200	Weak transcription	Adipose Nuclei	Adipose
9	chr5:112575200-112581400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:112575400-112581200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:112575400-112585400	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:112575600-112581800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr5:112575600-112582000	Weak transcription	Fetal Stomach	stomach
14	chr5:112576400-112582200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:112578600-112584200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr5:112578800-112581800	Weak transcription	HUVEC	blood vessel
17	chr5:112578800-112581800	Weak transcription	NHDF-Ad	bronchial
18	chr5:112578800-112584800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:112579200-112582000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:112579200-112582000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:112579600-112582200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:112579600-112582600	Weak transcription	Right Ventricle	heart
23	chr5:112579600-112585400	Weak transcription	Esophagus	oesophagus
24	chr5:112579600-112587000	Weak transcription	Aorta	Aorta
25	chr5:112579800-112581200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:112579800-112581200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:112579800-112581600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:112579800-112581800	Weak transcription	HMEC	breast
29	chr5:112579800-112582200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr5:112580200-112583000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr5:112580400-112581200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:112580400-112581200	Enhancers	Left Ventricle	heart
33	chr5:112580400-112583400	Enhancers	Fetal Heart	heart
34	chr5:112580400-112583800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:112580600-112581400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:112580600-112582000	Enhancers	Fetal Muscle Leg	muscle
37	chr5:112580600-112582000	Enhancers	NHEK	skin
38	chr5:112580600-112583200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr5:112580600-112597400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:112580800-112581200	Enhancers	Right Atrium	heart
41	chr5:112580800-112581400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:112580800-112581400	Enhancers	Placenta	Placenta
43	chr5:112580800-112581400	Enhancers	Ovary	ovary
44	chr5:112580800-112583600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr5:112580800-112583600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:112580800-112583800	Enhancers	Psoas Muscle	Psoas
47	chr5:112581000-112581200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:112581000-112581600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:112581000-112582800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:112581000-112583000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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