Variant report

Variant	rs10039730
Chromosome Location	chr5:111748104-111748105
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 209 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:204)

rs_ID	r²[population]
rs10036273	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10036357	0.89[ASN][1000 genomes]
rs10041380	1.00[ASN][1000 genomes]
rs10044406	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10050630	0.82[ASN][1000 genomes]
rs10051512	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10056040	1.00[ASN][1000 genomes]
rs10059675	1.00[ASN][1000 genomes]
rs10060534	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10060831	0.82[ASN][1000 genomes]
rs10060962	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10061025	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10061207	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10062045	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10068969	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10068974	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10069313	1.00[ASN][1000 genomes]
rs10069608	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10069773	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10071058	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10071862	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10071986	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10072705	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10076627	1.00[ASN][1000 genomes]
rs10077058	1.00[ASN][1000 genomes]
rs10077309	1.00[ASN][1000 genomes]
rs10077774	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10079307	0.94[ASN][1000 genomes]
rs10477480	1.00[ASN][1000 genomes]
rs10478081	1.00[JPT][hapmap]
rs10478082	1.00[JPT][hapmap]
rs10478083	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10478084	1.00[JPT][hapmap]
rs10478086	1.00[ASN][1000 genomes]
rs10515444	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10515447	1.00[EUR][1000 genomes]
rs12109843	1.00[EUR][1000 genomes]
rs12187850	1.00[CHB][hapmap]
rs12189127	0.94[ASN][1000 genomes]
rs12189152	0.94[ASN][1000 genomes]
rs13354202	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13354699	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13358734	0.80[ASN][1000 genomes]
rs1345685	0.82[ASN][1000 genomes]
rs1524423	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1524424	1.00[ASN][1000 genomes]
rs1554624	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134320	1.00[EUR][1000 genomes]
rs17134328	1.00[EUR][1000 genomes]
rs17134339	1.00[EUR][1000 genomes]
rs17134370	1.00[EUR][1000 genomes]
rs17134382	1.00[CHB][hapmap]
rs17134418	1.00[EUR][1000 genomes]
rs17134423	1.00[JPT][hapmap]
rs17134426	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17134429	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17134454	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17134478	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134479	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134502	1.00[EUR][1000 genomes]
rs17134503	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134505	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134556	1.00[EUR][1000 genomes]
rs17134559	1.00[EUR][1000 genomes]
rs17134564	1.00[EUR][1000 genomes]
rs17134566	1.00[EUR][1000 genomes]
rs17134569	1.00[EUR][1000 genomes]
rs17134595	1.00[EUR][1000 genomes]
rs17134619	1.00[EUR][1000 genomes]
rs17134621	1.00[EUR][1000 genomes]
rs2140624	1.00[EUR][1000 genomes]
rs2416285	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28497526	1.00[ASN][1000 genomes]
rs28626415	1.00[ASN][1000 genomes]
rs28631626	0.89[ASN][1000 genomes]
rs28716575	1.00[ASN][1000 genomes]
rs28806604	1.00[ASN][1000 genomes]
rs28831993	1.00[ASN][1000 genomes]
rs28836584	1.00[ASN][1000 genomes]
rs28851506	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28887818	1.00[ASN][1000 genomes]
rs2900063	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35368801	1.00[EUR][1000 genomes]
rs388383	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3903144	1.00[EUR][1000 genomes]
rs3985049	0.83[ASN][1000 genomes]
rs3985058	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4090543	1.00[EUR][1000 genomes]
rs4130531	1.00[EUR][1000 genomes]
rs4441914	1.00[ASN][1000 genomes]
rs448714	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs57536989	1.00[EUR][1000 genomes]
rs59723280	1.00[EUR][1000 genomes]
rs59728660	1.00[EUR][1000 genomes]
rs59911735	1.00[EUR][1000 genomes]
rs60901135	1.00[EUR][1000 genomes]
rs6594590	1.00[JPT][hapmap]
rs6594594	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594596	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594597	1.00[ASN][1000 genomes]
rs6594599	0.82[ASN][1000 genomes]
rs6860402	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6861534	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6863610	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6865127	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6865715	1.00[JPT][hapmap]
rs6865907	1.00[EUR][1000 genomes]
rs6866068	1.00[EUR][1000 genomes]
rs6867914	1.00[CHB][hapmap]
rs6873453	1.00[ASN][1000 genomes]
rs6875349	1.00[CHB][hapmap]
rs6878092	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878158	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6879906	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6883585	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6883800	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];1.00[ASN][1000 genomes]
rs6884339	1.00[JPT][hapmap]
rs6890476	1.00[JPT][hapmap]
rs6891512	1.00[JPT][hapmap]
rs6893840	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6894365	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6894395	0.82[ASN][1000 genomes]
rs6895299	1.00[ASN][1000 genomes]
rs721054	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs721055	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214232	1.00[EUR][1000 genomes]
rs73214236	1.00[EUR][1000 genomes]
rs73214243	1.00[EUR][1000 genomes]
rs73214250	1.00[EUR][1000 genomes]
rs73214252	1.00[EUR][1000 genomes]
rs73214254	1.00[ASN][1000 genomes]
rs73214255	1.00[EUR][1000 genomes]
rs73214256	1.00[ASN][1000 genomes]
rs73214261	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214264	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214269	1.00[EUR][1000 genomes]
rs73214270	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214272	1.00[ASN][1000 genomes]
rs73214274	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73216591	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73216602	1.00[EUR][1000 genomes]
rs73218303	1.00[EUR][1000 genomes]
rs73218309	1.00[EUR][1000 genomes]
rs73218315	1.00[EUR][1000 genomes]
rs73218319	1.00[EUR][1000 genomes]
rs73218321	1.00[ASN][1000 genomes]
rs73218335	1.00[EUR][1000 genomes]
rs73218338	0.94[ASN][1000 genomes]
rs73218339	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73218340	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73218343	1.00[ASN][1000 genomes]
rs73218345	1.00[EUR][1000 genomes]
rs73218347	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73218348	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73218349	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73220307	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73220310	1.00[EUR][1000 genomes]
rs73220313	1.00[EUR][1000 genomes]
rs73222143	1.00[EUR][1000 genomes]
rs73222145	1.00[EUR][1000 genomes]
rs73222146	1.00[EUR][1000 genomes]
rs73222148	1.00[EUR][1000 genomes]
rs73222150	1.00[EUR][1000 genomes]
rs73222155	1.00[EUR][1000 genomes]
rs73222163	1.00[EUR][1000 genomes]
rs73222167	1.00[EUR][1000 genomes]
rs7446816	1.00[EUR][1000 genomes]
rs7702830	0.94[ASN][1000 genomes]
rs7702999	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705094	1.00[ASN][1000 genomes]
rs7706551	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7706737	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7707028	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709879	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7709963	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7710041	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710063	1.00[ASN][1000 genomes]
rs7710507	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7711662	1.00[ASN][1000 genomes]
rs7714450	1.00[ASN][1000 genomes]
rs7725728	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7725742	1.00[ASN][1000 genomes]
rs7730739	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7733415	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7736305	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7736457	0.82[ASN][1000 genomes]
rs821737	1.00[EUR][1000 genomes]
rs821740	1.00[EUR][1000 genomes]
rs821741	1.00[EUR][1000 genomes]
rs821742	1.00[EUR][1000 genomes]
rs821743	1.00[EUR][1000 genomes]
rs821746	1.00[CHB][hapmap]
rs866597	1.00[EUR][1000 genomes]
rs9326853	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs956273	1.00[EUR][1000 genomes]
rs9654518	1.00[ASN][1000 genomes]
rs985873	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs986797	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9885137	1.00[JPT][hapmap]
rs9885182	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9885209	1.00[ASN][1000 genomes]
rs9885211	1.00[ASN][1000 genomes]
rs9885390	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs999243	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111728800-111753600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:111730400-111753800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:111732000-111753400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:111732600-111749200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:111734200-111753200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:111736000-111752400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:111738400-111752400	Weak transcription	Fetal Brain Female	brain
8	chr5:111740400-111751400	Weak transcription	Ovary	ovary
9	chr5:111743200-111753400	Weak transcription	Placenta	Placenta
10	chr5:111743600-111749200	Weak transcription	Aorta	Aorta
11	chr5:111743600-111753400	Weak transcription	Brain Substantia Nigra	brain
12	chr5:111744200-111752600	Weak transcription	Hela-S3	cervix
13	chr5:111745200-111749400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:111746200-111753400	Weak transcription	Right Ventricle	heart
15	chr5:111746600-111753800	Weak transcription	Spleen	Spleen
16	chr5:111747400-111748200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:111747400-111748200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:111747400-111749600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:111747400-111749600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:111747600-111748200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:111747600-111748200	Enhancers	Fetal Lung	lung
22	chr5:111747600-111748600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:111747600-111748600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr5:111747600-111748600	Enhancers	Left Ventricle	heart
25	chr5:111747600-111748800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:111747600-111748800	Enhancers	Fetal Kidney	kidney
27	chr5:111747600-111748800	Flanking Active TSS	HUVEC	blood vessel
28	chr5:111747600-111749800	Enhancers	NHEK	skin
29	chr5:111747600-111750400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:111747800-111748200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr5:111747800-111749200	Weak transcription	Gastric	stomach
32	chr5:111748000-111748800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr5:111748000-111749200	Weak transcription	Esophagus	oesophagus
34	chr5:111748000-111749200	Weak transcription	Lung	lung
35	chr5:111748000-111749200	Weak transcription	Right Atrium	heart
36	chr5:111748000-111750000	Weak transcription	Adipose Nuclei	Adipose
37	chr5:111748000-111751200	Enhancers	Fetal Heart	heart
38	chr5:111748000-111752000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:111748000-111753600	Weak transcription	Pancreas	Pancrea
40	chr5:111748000-111754200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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