Variant report

Variant	rs12906591
Chromosome Location	chr15:57029137-57029138
allele	A/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	STAT1	chr15:57028464-57030684	Hela-S3	cervix:	n/a	chr15:57029805-57029816 chr15:57029776-57029787
2	E2F6	chr15:57028618-57029414	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr15:57028641-57029368	K562	blood:	n/a	n/a
4	IRF1	chr15:57029136-57030171	K562	blood:	n/a	n/a

Variant related genes	Relation type
ZNF280D	TF binding region

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1010700	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10518870	0.81[EUR][1000 genomes]
rs11071287	0.85[EUR][1000 genomes]
rs11071293	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11632471	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11633363	0.85[EUR][1000 genomes]
rs11635333	0.85[EUR][1000 genomes]
rs11638497	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11638580	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11638707	0.84[EUR][1000 genomes]
rs12438709	0.86[EUR][1000 genomes]
rs12442018	0.84[EUR][1000 genomes]
rs12593286	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12595822	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12898521	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12898760	0.84[EUR][1000 genomes]
rs12900045	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12900244	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12900441	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12905514	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12906749	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12906830	0.83[EUR][1000 genomes]
rs12908806	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12910403	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12910442	0.82[EUR][1000 genomes]
rs12911191	0.81[EUR][1000 genomes]
rs12912666	0.84[EUR][1000 genomes]
rs12913361	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12913871	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12913960	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12915816	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1424694	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1477475	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1812395	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1895640	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2052640	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2161934	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2279298	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2414480	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28575268	0.96[ASN][1000 genomes]
rs28620278	0.81[EUR][1000 genomes]
rs4601984	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4774244	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4774886	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4774892	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs521904	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs538382	0.91[EUR][1000 genomes]
rs553421	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs559736	0.82[EUR][1000 genomes]
rs57387969	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62022931	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62022933	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62022934	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62022954	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6493885	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7162317	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7165831	0.83[EUR][1000 genomes]
rs7168178	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7169454	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs795032	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8025391	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8036217	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8041540	0.80[AMR][1000 genomes];0.85[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	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv569576	chr15:57012816-57126917	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3387219	chr15:57027535-57031262	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 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	chr15:57026000-57029400	Weak transcription	NH-A	brain
2	chr15:57026200-57029200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr15:57026200-57029200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr15:57026200-57029200	Weak transcription	Ovary	ovary
5	chr15:57026200-57029600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:57026200-57032400	Weak transcription	Pancreas	Pancrea
7	chr15:57026400-57029200	Enhancers	K562	blood
8	chr15:57026400-57029400	Weak transcription	Fetal Kidney	kidney
9	chr15:57026800-57030000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr15:57027600-57033000	Enhancers	HepG2	liver
11	chr15:57027800-57030200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:57027800-57032600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr15:57028200-57029800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:57028400-57030600	Enhancers	Rectal Smooth Muscle	rectum
15	chr15:57028600-57030400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:57028600-57030400	Enhancers	Colon Smooth Muscle	Colon
17	chr15:57028600-57030600	Enhancers	HUVEC	blood vessel
18	chr15:57028600-57030800	Enhancers	Hela-S3	cervix
19	chr15:57028800-57029200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:57028800-57029800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr15:57028800-57029800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr15:57028800-57030200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:57028800-57030200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr15:57028800-57030200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr15:57028800-57030400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr15:57028800-57030600	Enhancers	Fetal Stomach	stomach
27	chr15:57028800-57031400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr15:57029000-57029200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr15:57029000-57029200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr15:57029000-57029800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr15:57029000-57029800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr15:57029000-57029800	Enhancers	Small Intestine	intestine
33	chr15:57029000-57030400	Enhancers	Fetal Thymus	thymus
34	chr15:57029000-57030600	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr15:57029000-57030600	Weak transcription	A549	lung

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