Variant report

Variant	rs13274287
Chromosome Location	chr8:63776740-63776741
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	CTCF	chr8:63776593-63776880	K562	blood:	n/a	n/a
2	YY1	chr8:63776621-63776825	GM12891	blood:	n/a	n/a
3	ELF1	chr8:63776468-63776826	GM12878	blood:	n/a	n/a
4	CTCF	chr8:63776683-63776807	GM19240	blood:	n/a	n/a
5	CTCF	chr8:63776720-63776870	SAEC	small airway:	n/a	n/a
6	CTCF	chr8:63776660-63776810	GM12868	blood:	n/a	n/a
7	IRF1	chr8:63776615-63776975	K562	blood:	n/a	chr8:63776773-63776790 chr8:63776773-63776787 chr8:63776775-63776786 chr8:63776772-63776786 chr8:63776774-63776788 chr8:63776774-63776784 chr8:63776772-63776792 chr8:63776773-63776785 chr8:63776776-63776790
8	UBTF	chr8:63776609-63776761	K562	blood:	n/a	n/a
9	CTCF	chr8:63776660-63776810	HVMF	connective:	n/a	n/a
10	RAD21	chr8:63776417-63777058	SK-N-SH	brain:	n/a	n/a
11	CTCF	chr8:63776709-63776773	GM19238	blood:	n/a	n/a
12	MAX	chr8:63776555-63776894	SK-N-SH	brain:	n/a	n/a
13	CTCF	chr8:63776620-63776770	HVMF	connective:	n/a	n/a
14	CTCF	chr8:63776660-63776810	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr8:63776654-63776833	GM12892	blood:	n/a	n/a
16	RAD21	chr8:63776624-63776877	SK-N-SH_RA	brain:	n/a	n/a
17	RAD21	chr8:63776635-63776884	SK-N-SH_RA	brain:	n/a	n/a
18	RCOR1	chr8:63776633-63776782	K562	blood:	n/a	n/a
19	RAD21	chr8:63776579-63776882	GM12878	blood:	n/a	n/a
20	CTCF	chr8:63776680-63776830	AG10803	skin:	n/a	n/a
21	CTCF	chr8:63776640-63776790	GM12871	blood:	n/a	n/a
22	YY1	chr8:63776650-63776912	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr8:63776431-63777078	SK-N-SH	brain:	n/a	n/a
24	CTCF	chr8:63776680-63776830	HCFaa	heart:	n/a	n/a
25	CTCF	chr8:63776648-63776831	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr8:63776660-63776810	GM12871	blood:	n/a	n/a
27	CTCF	chr8:63776640-63776790	GM12875	blood:	n/a	n/a
28	CTCF	chr8:63776680-63776830	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr8:63776716-63776769	K562	blood:	n/a	n/a
30	RAD21	chr8:63776665-63776817	K562	blood:	n/a	n/a
31	CTCF	chr8:63776700-63776850	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr8:63776680-63776825	GM10266	blood:	n/a	n/a
33	CTCF	chr8:63776640-63776790	AG04449	skin:	n/a	n/a
34	IRF1	chr8:63776659-63776941	K562	blood:	n/a	chr8:63776773-63776790 chr8:63776773-63776787 chr8:63776775-63776786 chr8:63776772-63776786 chr8:63776774-63776788 chr8:63776774-63776784 chr8:63776772-63776792 chr8:63776773-63776785 chr8:63776776-63776790
35	CTCF	chr8:63776615-63776838	GM12891	blood:	n/a	n/a
36	CTCF	chr8:63776702-63776778	Spleen_OC	spleen:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GGH-2	chr8:63775641-63776740	NONHSAT126908

Variant related genes	Relation type
ENSG00000253431	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10095936	0.85[ASN][1000 genomes]
rs10216382	0.85[ASN][1000 genomes]
rs10957250	0.82[ASN][1000 genomes]
rs11779748	0.85[ASN][1000 genomes]
rs12679603	0.90[ASN][1000 genomes]
rs13249030	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1350055	0.84[ASN][1000 genomes]
rs1350056	0.84[ASN][1000 genomes]
rs2168318	0.84[ASN][1000 genomes]
rs2352236	0.89[ASN][1000 genomes]
rs28516791	0.83[ASN][1000 genomes]
rs35448187	0.90[ASN][1000 genomes]
rs4302833	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4307337	0.83[ASN][1000 genomes]
rs4332128	0.92[ASN][1000 genomes]
rs4446730	0.82[ASN][1000 genomes]
rs4554461	0.83[ASN][1000 genomes]
rs6472055	0.84[ASN][1000 genomes]
rs6984039	0.85[ASN][1000 genomes]
rs7016805	0.82[ASN][1000 genomes]
rs7018000	0.85[ASN][1000 genomes]
rs7018025	0.90[ASN][1000 genomes]
rs7018340	1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs7462712	0.92[ASN][1000 genomes]
rs7826606	0.88[ASN][1000 genomes]
rs7830715	0.89[ASN][1000 genomes]
rs7836848	0.85[ASN][1000 genomes]
rs7842329	0.90[ASN][1000 genomes]
rs899674	0.88[ASN][1000 genomes]
rs899680	0.92[ASN][1000 genomes]
rs979262	0.84[ASN][1000 genomes]

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	nsv1018879	chr8:63281724-63937632	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv831341	chr8:63658694-63852213	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv890962	chr8:63708519-63812686	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv398476	chr8:63772081-63779449	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63776400-63776800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:63776400-63776800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
3	chr8:63776400-63776800	Active TSS	Gastric	stomach
4	chr8:63776400-63777000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:63776400-63777000	Active TSS	Duodenum Mucosa	Duodenum
6	chr8:63776600-63777000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:63776600-63777000	Active TSS	Thymus	Thymus
8	chr8:63776600-63777200	Active TSS	K562	blood
9	chr8:63776600-63777600	ZNF genes & repeats	Fetal Brain Female	brain

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