Variant report

Variant	rs11740443
Chromosome Location	chr5:112600506-112600507
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10428666	0.92[EUR][1000 genomes]
rs10519343	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10519345	0.97[ASN][1000 genomes]
rs10519346	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11241197	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11740045	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11740190	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11740233	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11740318	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11740353	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11741794	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11741937	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11743052	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11744606	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11746532	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11746791	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11746821	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11748058	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11748465	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11748503	0.92[EUR][1000 genomes]
rs11748524	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11749864	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12186466	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12188069	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12188070	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12188230	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12514091	0.81[AMR][1000 genomes]
rs12518849	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12521391	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12522683	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12522862	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12523027	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12523284	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17135454	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17135463	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17135488	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17135506	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17135507	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17135514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17135515	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17135517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135519	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17135520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17135526	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17135531	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17135534	0.87[AMR][1000 genomes]
rs17135535	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17135543	0.87[ASN][1000 genomes]
rs17135546	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17164185	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1845289	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1850410	0.97[EUR][1000 genomes]
rs1997521	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2091803	0.95[ASN][1000 genomes]
rs2091804	0.95[ASN][1000 genomes]
rs34271294	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4632792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4705549	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4705806	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4705807	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4705808	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4705809	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4705810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56294433	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56362568	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs59107004	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59222257	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60087454	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60437559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594695	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66893265	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67063423	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67373655	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67550282	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs68069850	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6879761	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6887565	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6888602	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs73244759	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73244767	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73244768	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73244769	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73244770	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73244772	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73244779	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73246604	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73246629	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];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[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7703865	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7724707	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7724717	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7724936	0.93[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs971370	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs971371	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs971373	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs977997	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112582800-112601000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:112583000-112604600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:112586600-112623600	Weak transcription	Pancreas	Pancrea
4	chr5:112587600-112617000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:112588000-112601200	Weak transcription	HMEC	breast
6	chr5:112589200-112610600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:112589400-112602200	Weak transcription	Esophagus	oesophagus
8	chr5:112591600-112602000	Weak transcription	Brain Substantia Nigra	brain
9	chr5:112594400-112602200	Weak transcription	Left Ventricle	heart
10	chr5:112594400-112602200	Weak transcription	Right Ventricle	heart
11	chr5:112595200-112600800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:112595200-112601800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:112595600-112602200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:112597000-112600800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:112598600-112600800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr5:112598600-112601000	Weak transcription	Right Atrium	heart
17	chr5:112598600-112601200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:112598800-112600600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:112598800-112603800	Enhancers	Liver	Liver
20	chr5:112599000-112600800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:112599000-112601000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:112599200-112601400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr5:112599400-112603000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr5:112599800-112602000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:112599800-112602200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:112599800-112604800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:112600000-112601000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr5:112600000-112601000	Enhancers	Fetal Muscle Leg	muscle
29	chr5:112600000-112601200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:112600000-112601600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr5:112600000-112602000	Weak transcription	Adipose Nuclei	Adipose
32	chr5:112600200-112600600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr5:112600200-112601000	Weak transcription	Fetal Heart	heart
34	chr5:112600200-112601200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:112600200-112602000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:112600200-112604800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:112600200-112605000	Weak transcription	NH-A	brain
38	chr5:112600200-112618000	Weak transcription	Fetal Kidney	kidney
39	chr5:112600400-112600600	Enhancers	Placenta	Placenta
40	chr5:112600400-112600800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:112600400-112600800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr5:112600400-112600800	Weak transcription	Ovary	ovary
43	chr5:112600400-112601000	Weak transcription	NHEK	skin
44	chr5:112600400-112601400	Weak transcription	Fetal Lung	lung
45	chr5:112600400-112605200	Weak transcription	Stomach Smooth Muscle	stomach

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