Variant report

Variant	rs62022931
Chromosome Location	chr15:57029988-57029989
allele	C/T
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	TEAD4	chr15:57029210-57030106	K562	blood:	n/a	n/a
2	TCF7L2	chr15:57029264-57030079	HEK293	kidney:	n/a	n/a
3	STAT1	chr15:57028464-57030684	Hela-S3	cervix:	n/a	chr15:57029805-57029816 chr15:57029776-57029787
4	FOXA1	chr15:57029869-57030453	HepG2	liver:	n/a	n/a
5	ATF1	chr15:57029414-57030015	K562	blood:	n/a	n/a
6	JUND	chr15:57029426-57030070	K562	blood:	n/a	n/a
7	GATA2	chr15:57029466-57030016	HUVEC	blood vessel:	n/a	n/a
8	EP300	chr15:57029321-57030282	K562	blood:	n/a	n/a
9	IRF1	chr15:57029483-57030002	K562	blood:	n/a	n/a
10	EP300	chr15:57029919-57030406	HepG2	liver:	n/a	n/a
11	RCOR1	chr15:57029389-57030014	K562	blood:	n/a	n/a
12	FOXA1	chr15:57029870-57030322	HepG2	liver:	n/a	n/a
13	JUN	chr15:57029367-57029995	K562	blood:	n/a	n/a
14	IRF1	chr15:57029136-57030171	K562	blood:	n/a	n/a
15	FOXA1	chr15:57029926-57030462	HepG2	liver:	n/a	n/a
16	MYC	chr15:57029274-57030044	K562	blood:	n/a	n/a
17	FOXA2	chr15:57029737-57030656	HepG2	liver:	n/a	n/a
18	TBL1XR1	chr15:57029459-57030058	K562	blood:	n/a	n/a
19	STAT1	chr15:57029390-57030106	K562	blood:	n/a	chr15:57029805-57029816 chr15:57029776-57029787
20	STAT1	chr15:57029405-57030036	K562	blood:	n/a	chr15:57029805-57029816 chr15:57029776-57029787
21	TAF1	chr15:57029686-57030021	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:65271375..65272060-chr15:57029412..57030284,2	Hela-S3	cervix:
2	chr15:57029486..57031384-chr15:57033144..57035574,2	K562	blood:

Variant related genes	Relation type
ZNF280D	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1010700	0.93[EUR][1000 genomes]
rs10518870	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11071287	0.81[EUR][1000 genomes]
rs11071293	0.84[EUR][1000 genomes]
rs11632471	0.90[EUR][1000 genomes]
rs11633363	0.81[EUR][1000 genomes]
rs11635333	0.81[EUR][1000 genomes]
rs11638497	0.91[EUR][1000 genomes]
rs11638580	0.91[EUR][1000 genomes]
rs11638707	0.81[EUR][1000 genomes]
rs12438709	0.83[EUR][1000 genomes]
rs12442018	0.81[EUR][1000 genomes]
rs12593286	0.83[EUR][1000 genomes]
rs12595822	0.92[EUR][1000 genomes]
rs12898521	0.91[EUR][1000 genomes]
rs12898760	0.81[EUR][1000 genomes]
rs12900045	0.84[EUR][1000 genomes]
rs12900244	0.91[EUR][1000 genomes]
rs12900441	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12905514	0.91[EUR][1000 genomes]
rs12906591	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12906749	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12908806	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12910403	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12912666	0.81[EUR][1000 genomes]
rs12913361	0.91[EUR][1000 genomes]
rs12913871	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12913960	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12915816	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1424694	0.91[EUR][1000 genomes]
rs1477475	0.92[EUR][1000 genomes]
rs1812395	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1895640	0.92[EUR][1000 genomes]
rs2052640	0.87[EUR][1000 genomes]
rs2161934	0.86[EUR][1000 genomes]
rs2279298	0.82[EUR][1000 genomes]
rs2414480	0.82[EUR][1000 genomes]
rs4601984	0.83[EUR][1000 genomes]
rs4774244	0.82[EUR][1000 genomes]
rs4774886	0.81[EUR][1000 genomes]
rs521904	0.90[EUR][1000 genomes]
rs538382	0.87[EUR][1000 genomes]
rs553421	0.91[EUR][1000 genomes]
rs57387969	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62022933	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62022934	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62022954	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6493885	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7162317	0.92[EUR][1000 genomes]
rs7165831	0.80[EUR][1000 genomes]
rs7168178	0.84[EUR][1000 genomes]
rs7169454	0.84[EUR][1000 genomes]
rs795032	0.88[EUR][1000 genomes]
rs8025391	0.82[EUR][1000 genomes]
rs8036217	0.82[EUR][1000 genomes]
rs8041540	0.82[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57026200-57032400	Weak transcription	Pancreas	Pancrea
2	chr15:57026800-57030000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr15:57027600-57033000	Enhancers	HepG2	liver
4	chr15:57027800-57030200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:57027800-57032600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr15:57028400-57030600	Enhancers	Rectal Smooth Muscle	rectum
7	chr15:57028600-57030400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr15:57028600-57030400	Enhancers	Colon Smooth Muscle	Colon
9	chr15:57028600-57030600	Enhancers	HUVEC	blood vessel
10	chr15:57028600-57030800	Enhancers	Hela-S3	cervix
11	chr15:57028800-57030200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:57028800-57030200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr15:57028800-57030200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr15:57028800-57030400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr15:57028800-57030600	Enhancers	Fetal Stomach	stomach
16	chr15:57028800-57031400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr15:57029000-57030400	Enhancers	Fetal Thymus	thymus
18	chr15:57029000-57030600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr15:57029000-57030600	Weak transcription	A549	lung
20	chr15:57029200-57030000	Flanking Active TSS	K562	blood
21	chr15:57029200-57030200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:57029200-57030200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:57029200-57030400	Enhancers	Ovary	ovary
24	chr15:57029200-57030800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:57029200-57032400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr15:57029400-57030000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr15:57029400-57030800	Enhancers	Fetal Kidney	kidney
28	chr15:57029600-57030400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:57029800-57030000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr15:57029800-57031400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr15:57029800-57031400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr15:57029800-57031600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr15:57029800-57032200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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