Variant report

Variant	rs11743052
Chromosome Location	chr5:112580880-112580881
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112576255..112578930-chr5:112578933..112581021,2	K562	blood:
2	chr5:112579792..112582768-chr5:112586295..112589549,3	K562	blood:

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10519343	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10519345	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10519346	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10900685	0.92[CEU][hapmap]
rs1116547	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs11241197	1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs11241201	0.84[CEU][hapmap]
rs11241206	0.92[CEU][hapmap]
rs11738075	0.92[CEU][hapmap]
rs11738215	0.92[CEU][hapmap]
rs11740045	0.90[ASN][1000 genomes]
rs11740190	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11740233	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11740318	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11740353	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11740443	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11741794	1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs11741937	0.90[ASN][1000 genomes]
rs11744606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11746532	0.90[ASN][1000 genomes]
rs11746791	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11746821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11748058	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11748465	1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs11748524	1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs11749864	0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs11750945	0.83[CEU][hapmap]
rs12186466	1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12188069	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12188070	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12188230	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12516418	0.91[CEU][hapmap]
rs12518849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12519753	0.81[EUR][1000 genomes]
rs12520003	1.00[CHB][hapmap]
rs12523027	1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs12523255	0.92[CEU][hapmap]
rs12523284	0.90[ASN][1000 genomes]
rs17135488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17135506	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17135507	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17135514	0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17135515	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17135517	1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17135519	0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs17135520	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17135526	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs17135531	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs17135535	1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs17135543	1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs17135546	1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs17135597	0.84[CEU][hapmap]
rs17135608	0.92[CEU][hapmap]
rs17135616	0.90[CEU][hapmap]
rs1845289	0.90[ASN][1000 genomes]
rs1997521	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2091803	1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs2091804	0.95[ASN][1000 genomes]
rs34271294	0.83[ASN][1000 genomes]
rs3846721	0.92[CEU][hapmap]
rs4632792	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4705806	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4705808	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4705809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4705810	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4705814	0.92[CEU][hapmap]
rs4705817	0.83[CEU][hapmap]
rs56294433	0.83[ASN][1000 genomes]
rs56362568	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59107004	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59222257	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60087454	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60437559	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6594695	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6594696	1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6594697	1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66893265	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67063423	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67373655	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67550282	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68069850	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6864528	0.92[CEU][hapmap]
rs6879761	1.00[ASN][1000 genomes]
rs6879800	0.92[CEU][hapmap]
rs6887565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6888602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73244768	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73244769	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73244770	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73244772	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73244779	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246604	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73246629	0.90[ASN][1000 genomes]
rs73246648	0.87[ASN][1000 genomes]
rs73246657	0.83[ASN][1000 genomes]
rs73246677	0.90[ASN][1000 genomes]
rs73246681	0.90[ASN][1000 genomes]
rs7707127	1.00[YRI][hapmap]
rs7717000	0.92[CEU][hapmap]
rs7724707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7724717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7724936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs971370	1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs971371	1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs971373	1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs977997	1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[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	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	chr5:112574200-112581000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:112575000-112581000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:112575000-112581200	Weak transcription	Adipose Nuclei	Adipose
11	chr5:112575200-112581400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:112575400-112581000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:112575400-112581200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:112575400-112585400	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:112575600-112581800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr5:112575600-112582000	Weak transcription	Fetal Stomach	stomach
17	chr5:112576400-112582200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:112576800-112581000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:112578600-112584200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:112578800-112581000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:112578800-112581800	Weak transcription	HUVEC	blood vessel
22	chr5:112578800-112581800	Weak transcription	NHDF-Ad	bronchial
23	chr5:112578800-112584800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:112579200-112582000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:112579200-112582000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:112579600-112582200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr5:112579600-112582600	Weak transcription	Right Ventricle	heart
28	chr5:112579600-112585400	Weak transcription	Esophagus	oesophagus
29	chr5:112579600-112587000	Weak transcription	Aorta	Aorta
30	chr5:112579800-112581200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:112579800-112581200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:112579800-112581600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:112579800-112581800	Weak transcription	HMEC	breast
34	chr5:112579800-112582200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr5:112580200-112583000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr5:112580400-112581200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr5:112580400-112581200	Enhancers	Left Ventricle	heart
38	chr5:112580400-112583400	Enhancers	Fetal Heart	heart
39	chr5:112580400-112583800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:112580600-112581400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:112580600-112582000	Enhancers	Fetal Muscle Leg	muscle
42	chr5:112580600-112582000	Enhancers	NHEK	skin
43	chr5:112580600-112583200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr5:112580600-112597400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:112580800-112581200	Enhancers	Right Atrium	heart
46	chr5:112580800-112581400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:112580800-112581400	Enhancers	Placenta	Placenta
48	chr5:112580800-112581400	Enhancers	Ovary	ovary
49	chr5:112580800-112583600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr5:112580800-112583600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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