Variant report

Variant	rs10069608
Chromosome Location	chr5:111751412-111751413
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr5:111751232-111751677	T-47D	breast:	n/a	n/a
2	FOXA1	chr5:111751199-111751647	HepG2	liver:	n/a	n/a
3	EP300	chr5:111751297-111751664	T-47D	breast:	n/a	n/a
4	FOXA1	chr5:111751311-111751657	HepG2	liver:	n/a	n/a
5	GATA3	chr5:111751211-111751666	T-47D	breast:	n/a	n/a
6	FOXA1	chr5:111751306-111751662	HepG2	liver:	n/a	n/a
7	FOXA2	chr5:111751315-111751605	HepG2	liver:	n/a	n/a
8	GATA3	chr5:111751140-111751627	T-47D	breast:	n/a	n/a
9	FOXA1	chr5:111751293-111751619	T-47D	breast:	n/a	n/a

Variant related genes	Relation type
EPB41L4A-AS2	TF binding region

Extended variants
information (count: 155 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:150)

rs_ID	r²[population]
rs10036273	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10036357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10039730	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[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	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10059675	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10060534	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10060831	0.82[ASN][1000 genomes]
rs10060962	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10061025	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];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[ASN][1000 genomes]
rs10068974	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10069313	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10069773	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];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[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10071986	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072705	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10076627	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10077058	1.00[ASN][1000 genomes]
rs10077309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478081	1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs10478082	1.00[JPT][hapmap]
rs10478083	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs10478084	1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs10478086	1.00[ASN][1000 genomes]
rs10515444	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11288564	0.84[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];0.94[ASN][1000 genomes]
rs13354699	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13355990	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13358734	0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs1345685	0.82[ASN][1000 genomes]
rs1524423	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1524424	0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1554624	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134382	1.00[CHB][hapmap]
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[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134454	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134475	1.00[EUR][1000 genomes]
rs17134478	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17134479	1.00[ASN][1000 genomes]
rs17134503	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134505	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134521	1.00[EUR][1000 genomes]
rs2416285	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28497526	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28626415	1.00[ASN][1000 genomes]
rs28631626	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28716575	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28806604	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28831993	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28836584	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28851506	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28887818	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2900063	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs388383	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3985049	0.83[ASN][1000 genomes]
rs3985058	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4441914	1.00[ASN][1000 genomes]
rs448714	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6594590	1.00[JPT][hapmap]
rs6594594	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6594596	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6594597	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];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[ASN][1000 genomes]
rs6863610	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]
rs6865127	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6865715	1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs6867914	1.00[CHB][hapmap]
rs6873453	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6875349	1.00[CHB][hapmap]
rs6878092	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6878158	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6884339	1.00[JPT][hapmap]
rs6890476	1.00[JPT][hapmap];0.92[EUR][1000 genomes]
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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs721054	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs721055	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73214254	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214256	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214261	1.00[ASN][1000 genomes]
rs73214264	1.00[ASN][1000 genomes]
rs73214270	1.00[ASN][1000 genomes]
rs73214272	1.00[ASN][1000 genomes]
rs73214274	1.00[ASN][1000 genomes]
rs73216591	1.00[ASN][1000 genomes]
rs73218321	1.00[ASN][1000 genomes]
rs73218338	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73218339	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73218340	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73218343	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73218347	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73218348	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73218349	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73220307	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7702830	0.94[ASN][1000 genomes]
rs7702999	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7705094	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];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[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707028	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7709879	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709963	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710041	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7710063	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7710507	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7714450	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];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[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7733415	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7736305	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7736457	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7736739	0.82[AFR][1000 genomes]
rs821746	1.00[CHB][hapmap]
rs9326853	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][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];1.00[ASN][1000 genomes]
rs9885137	1.00[JPT][hapmap]
rs9885177	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9885182	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9885209	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9885211	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9885390	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];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:35 , 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	chr5:111734200-111753200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:111736000-111752400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:111738400-111752400	Weak transcription	Fetal Brain Female	brain
7	chr5:111743200-111753400	Weak transcription	Placenta	Placenta
8	chr5:111743600-111753400	Weak transcription	Brain Substantia Nigra	brain
9	chr5:111744200-111752600	Weak transcription	Hela-S3	cervix
10	chr5:111746200-111753400	Weak transcription	Right Ventricle	heart
11	chr5:111746600-111753800	Weak transcription	Spleen	Spleen
12	chr5:111748000-111752000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:111748000-111753600	Weak transcription	Pancreas	Pancrea
14	chr5:111748000-111754200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:111748200-111753400	Weak transcription	Fetal Lung	lung
16	chr5:111748600-111753600	Weak transcription	Left Ventricle	heart
17	chr5:111749400-111752800	Weak transcription	Aorta	Aorta
18	chr5:111749400-111753400	Weak transcription	Fetal Kidney	kidney
19	chr5:111749400-111753600	Weak transcription	Lung	lung
20	chr5:111749600-111753000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:111749600-111753600	Weak transcription	Esophagus	oesophagus
22	chr5:111749600-111753600	Weak transcription	Gastric	stomach
23	chr5:111749600-111753600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:111749800-111752600	Weak transcription	HUVEC	blood vessel
25	chr5:111749800-111752800	Weak transcription	Psoas Muscle	Psoas
26	chr5:111749800-111753400	Weak transcription	NHEK	skin
27	chr5:111749800-111753600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:111750400-111752600	Weak transcription	Right Atrium	heart
29	chr5:111750400-111753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:111750600-111751600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:111750800-111751800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:111751000-111752200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:111751000-111752200	Weak transcription	Adipose Nuclei	Adipose
34	chr5:111751200-111752200	Weak transcription	Fetal Heart	heart
35	chr5:111751400-111751600	ZNF genes & repeats	Ovary	ovary

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