Variant report

Variant	rs1332851
Chromosome Location	chr6:12752325-12752326
allele	A/C/G/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	RCOR1	chr6:12751957-12752349	K562	blood:	n/a	n/a
2	REST	chr6:12751717-12752503	PFSK-1	brain:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
3	REST	chr6:12751712-12752738	ECC-1	luminal epithelium:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
4	REST	chr6:12751354-12752967	HL-60	blood:	n/a	chr6:12751487-12751507 chr6:12752120-12752129 chr6:12751487-12751507 chr6:12752128-12752146 chr6:12751487-12751507 chr6:12752133-12752147
5	REST	chr6:12751918-12752478	Hela-S3	cervix:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
6	REST	chr6:12751625-12752584	H1-hESC	embryonic stem cell:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
7	REST	chr6:12751816-12752511	HCT-116	colon:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
8	ZNF263	chr6:12751839-12752368	HEK293-T-REx	kidney:	n/a	n/a
9	REST	chr6:12751931-12752385	SK-N-SH	brain:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
10	REST	chr6:12751916-12752498	K562	blood:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
11	REST	chr6:12751959-12752351	GM12878	blood:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
12	REST	chr6:12751779-12752565	HepG2	liver:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
13	SIN3A	chr6:12751909-12752345	H1-hESC	embryonic stem cell:	n/a	n/a
14	REST	chr6:12751558-12752716	ECC-1	luminal epithelium:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
15	REST	chr6:12751830-12752344	A549	lung:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
16	REST	chr6:12751682-12752603	H1-neurons	neurons:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
17	REST	chr6:12752001-12752335	PANC-1	pancreas:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
18	REST	chr6:12751888-12752427	SK-N-SH	brain:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
19	REST	chr6:12751833-12752507	PFSK-1	brain:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
20	REST	chr6:12751843-12752572	H1-hESC	embryonic stem cell:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
21	REST	chr6:12751701-12752650	PANC-1	pancreas:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
22	REST	chr6:12751668-12752676	Hela-S3	cervix:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
23	REST	chr6:12751886-12752577	MCF-7	breast:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
24	REST	chr6:12751884-12752394	PFSK-1	brain:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
25	REST	chr6:12751549-12752616	PANC-1	pancreas:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
26	REST	chr6:12751699-12752700	MCF-7	breast:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
27	REST	chr6:12751965-12752420	GM12878	blood:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
28	REST	chr6:12751808-12752578	HL-60	blood:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
29	REST	chr6:12751862-12752462	U87	brain:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
30	REST	chr6:12751909-12752390	SK-N-SH	brain:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
31	ZNF143	chr6:12751950-12752326	GM12878	blood:	n/a	n/a
32	REST	chr6:12751810-12752634	HepG2	liver:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
33	REST	chr6:12751709-12752572	K562	blood:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
34	REST	chr6:12751803-12752572	HCT-116	colon:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
35	REST	chr6:12751928-12752381	PANC-1	pancreas:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
36	REST	chr6:12751656-12752480	A549	lung:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
37	REST	chr6:12751855-12752480	U87	brain:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
38	REST	chr6:12751927-12752360	HepG2	liver:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
39	REST	chr6:12751828-12752583	GM12878	blood:	n/a	chr6:12752120-12752129 chr6:12752128-12752146 chr6:12752133-12752147
40	TEAD4	chr6:12751863-12752423	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000223291	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1011188	0.89[CEU][hapmap]
rs10498681	0.89[CEU][hapmap]
rs12525210	1.00[CEU][hapmap]
rs12526812	0.89[CEU][hapmap];0.90[MEX][hapmap]
rs12528721	0.82[CEU][hapmap]
rs12530470	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1571996	0.89[CEU][hapmap]
rs1572001	0.89[CEU][hapmap]
rs17616767	0.89[CEU][hapmap];0.90[MEX][hapmap]
rs17678734	0.89[CEU][hapmap];0.90[MEX][hapmap]
rs2015761	1.00[CEU][hapmap]
rs2151221	0.89[CEU][hapmap]
rs2876298	0.89[CEU][hapmap];0.81[MEX][hapmap]
rs35278288	0.89[CEU][hapmap]
rs4577783	0.89[CEU][hapmap];0.90[MEX][hapmap]
rs4583985	0.89[CEU][hapmap]
rs4711817	0.89[CEU][hapmap]
rs4714931	0.80[CEU][hapmap]
rs6911996	1.00[CEU][hapmap]
rs6915585	0.89[CEU][hapmap]
rs7768030	0.89[CEU][hapmap]
rs9357486	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9369612	0.89[CEU][hapmap]
rs9381451	0.89[CEU][hapmap]
rs9395098	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9463093	0.88[CEU][hapmap]
rs9463114	0.89[CEU][hapmap]
rs9463117	0.89[CEU][hapmap]
rs9463119	0.89[CEU][hapmap];0.90[MEX][hapmap]
rs9472513	0.89[CEU][hapmap]
rs9472514	0.89[CEU][hapmap]
rs9472528	0.89[CEU][hapmap];0.81[MEX][hapmap]
rs9472549	0.89[CEU][hapmap];0.81[MEX][hapmap]
rs9472566	0.89[CEU][hapmap];0.90[MEX][hapmap]
rs950719	0.90[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1332851	MYLIP	cis	parietal	SCAN
rs1332851	JARID2	cis	parietal	SCAN
rs1332851	PHACTR1	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12748800-12752600	Active TSS	Fetal Brain Female	brain
2	chr6:12751600-12752600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr6:12751600-12752600	Enhancers	Fetal Brain Male	brain
4	chr6:12752000-12752400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:12752200-12752400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:12752200-12752400	Enhancers	Brain Germinal Matrix	brain

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