Variant report

Variant	rs10757112
Chromosome Location	chr9:2011588-2011589
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:2011564-2011614	HCM	heart:	n/a
2	chr9:2011564-2011614	HRPEpiC	eye:	n/a
3	chr9:2011564-2011614	MCF10A-Er-Src	breast:	n/a
4	chr9:2011564-2011614	Hepatocyte	liver:	n/a
5	chr9:2011564-2011614	GM12878	blood:	n/a
6	chr9:2011564-2011614	SKMC	muscle:	n/a
7	chr9:2011564-2011614	GM19239	blood:	n/a
8	chr9:2011564-2011614	NHBE	bronchial:	n/a
9	chr9:2011564-2011614	HCPEpiC	choroid plexus:	n/a
10	chr9:2011564-2011614	HL-60	blood:	n/a
11	chr9:2011564-2011614	AG09319	gingival:	n/a
12	chr9:2011564-2011614	BJ	skin:	n/a
13	chr9:2011564-2011614	HCT-116	colon:	n/a
14	chr9:2011564-2011614	AG09309	skin:	n/a
15	chr9:2011564-2011614	IMR90	lung:	fetal
16	chr9:2011564-2011614	AG10803	skin:	n/a
17	chr9:2011564-2011614	PrEC	prostate:	n/a
18	chr9:2011564-2011614	A549	lung:	n/a
19	chr9:2011564-2011614	HPAEpiC	pulmonary alveolar:	n/a
20	chr9:2011564-2011614	AG04449	skin:	fetal
21	chr9:2011564-2011614	SAEC	small airway:	n/a
22	chr9:2011564-2011614	LNCaP	prostate:	n/a
23	chr9:2011564-2011614	NT2-D1	testis:	n/a
24	chr9:2011564-2011614	HRE	kidney:	n/a
25	chr9:2011564-2011614	Hela-S3	cervix:	n/a
26	chr9:2011564-2011614	RPTEC	kidney:	n/a
27	chr9:2011564-2011614	GM12891	blood:	n/a
28	chr9:2011564-2011614	PANC-1	pancreas:	n/a
29	chr9:2011564-2011614	GM06990	blood:	n/a
30	chr9:2011564-2011614	MCF-7	breast:	n/a
31	chr9:2011564-2011614	NB4	blood:	n/a
32	chr9:2011564-2011614	K562	blood:	n/a
33	chr9:2011564-2011614	HAEpiC	amniotic membrane:	n/a
34	chr9:2011564-2011614	HIPEpiC	eye:	n/a
35	chr9:2011564-2011614	ovcar-3	ovarian:	n/a
36	chr9:2011564-2011614	HEEpiC	esophagus:	n/a
37	chr9:2011564-2011614	T-47D	breast:	n/a
38	chr9:2011564-2011614	HUVEC	blood vessel:	n/a
39	chr9:2011564-2011614	U87	brain:	n/a
40	chr9:2011564-2011614	HEK293	kidney:	embryo
41	chr9:2011564-2011614	AG04450	lung:	fetal
42	chr9:2011564-2011614	Jurkat	blood:	n/a
43	chr9:2011564-2011614	HRCEpiC	kidney:	n/a
44	chr9:2011564-2011614	HepG2	liver:	n/a
45	chr9:2011564-2011614	NH-A	brain:	n/a
46	chr9:2011564-2011614	Caco-2	colon:	n/a
47	chr9:2011564-2011614	ProgFib	skin:	n/a
48	chr9:2011564-2011614	PFSK-1	brain:	n/a
49	chr9:2011564-2011614	BE2_C	brain:	n/a
50	chr9:2011564-2011614	H1-hESC	embryonic stem cell:	embryo

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:2009959..2012169-chr9:2015635..2018101,3	MCF-7	breast:
2	chr9:2009885..2011957-chr9:2013522..2016362,3	K562	blood:
3	chr9:2006630..2009336-chr9:2010265..2012993,2	K562	blood:
4	chr9:2005663..2011672-chr9:2014113..2018965,7	MCF-7	breast:

No data

Variant related genes	Relation type
SMARCA2	CpG island
ENSG00000080503	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4741636	0.96[CEU][hapmap];0.82[CHB][hapmap];0.84[GIH][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7032161	0.94[ASN][1000 genomes]
rs7040790	0.96[CEU][hapmap];0.89[CHB][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71504690	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016148	chr9:1457605-2361750	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv539916	chr9:1457605-2361750	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1021712	chr9:1647840-2216839	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv539921	chr9:1647840-2216839	Bivalent Enhancer Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1020530	chr9:1870197-2658587	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv831493	chr9:1885733-2074135	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv892047	chr9:1888703-2018825	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv892048	chr9:1888703-2177391	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1021158	chr9:1963930-2040728	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv892052	chr9:1980819-2072470	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv2830420	chr9:1998911-2119702	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv530929	chr9:1998911-2925112	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10757112	C12orf74	trans	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2005800-2014200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr9:2009200-2013600	Weak transcription	Right Atrium	heart
3	chr9:2009400-2013600	Weak transcription	Liver	Liver
4	chr9:2010400-2012000	Enhancers	GM12878-XiMat	blood
5	chr9:2011400-2011600	Enhancers	Lung	lung

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