Variant report

Variant	rs12575247
Chromosome Location	chr11:32452524-32452525
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr11:32452489-32453021	H1-hESC	embryonic stem cell:	n/a	chr11:32452878-32452885
2	SUZ12	chr11:32447620-32453523	H1-hESC	embryonic stem cell:	n/a	n/a
3	TBP	chr11:32452485-32452850	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr11:32452232-32452774	K562	blood:	n/a	n/a
5	HMGN3	chr11:32452288-32452780	K562	blood:	n/a	n/a
6	CTBP2	chr11:32451694-32453467	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:32452388-32452753	K562	blood:	n/a	n/a
8	POLR2A	chr11:32452050-32453010	K562	blood:	n/a	n/a
9	CBX3	chr11:32452392-32452763	K562	blood:	n/a	n/a
10	CTCF	chr11:32452400-32452550	HFF-Myc	foreskin:	n/a	chr11:32452497-32452510

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:32452513-32452563	H1-hESC	embryonic stem cell:	embryo
2	chr11:32452513-32452563	AG10803	skin:	n/a
3	chr11:32452513-32452563	HUVEC	blood vessel:	n/a
4	chr11:32452513-32452563	PANC-1	pancreas:	n/a
5	chr11:32452513-32452563	MCF10A-Er-Src	breast:	n/a
6	chr11:32452513-32452563	AG04449	skin:	fetal
7	chr11:32452513-32452563	NH-A	brain:	n/a
8	chr11:32452513-32452563	SKMC	muscle:	n/a
9	chr11:32452513-32452563	NB4	blood:	n/a
10	chr11:32452513-32452563	HEEpiC	esophagus:	n/a
11	chr11:32452513-32452563	U87	brain:	n/a
12	chr11:32452513-32452563	NT2-D1	testis:	n/a
13	chr11:32452513-32452563	ProgFib	skin:	n/a
14	chr11:32452513-32452563	ovcar-3	ovarian:	n/a
15	chr11:32452513-32452563	GM06990	blood:	n/a
16	chr11:32452513-32452563	BE2_C	brain:	n/a
17	chr11:32452513-32452563	Caco-2	colon:	n/a
18	chr11:32452513-32452563	PFSK-1	brain:	n/a
19	chr11:32452513-32452563	ECC-1	luminal epithelium:	n/a
20	chr11:32452513-32452563	T-47D	breast:	n/a
21	chr11:32452513-32452563	HCM	heart:	n/a
22	chr11:32452513-32452563	PrEC	prostate:	n/a
23	chr11:32452513-32452563	NHDF-neo	bronchial:	n/a
24	chr11:32452513-32452563	HL-60	blood:	n/a
25	chr11:32452513-32452563	Hela-S3	cervix:	n/a
26	chr11:32452513-32452563	GM19239	blood:	n/a
27	chr11:32452513-32452563	HRE	kidney:	n/a
28	chr11:32452513-32452563	HAEpiC	amniotic membrane:	n/a
29	chr11:32452513-32452563	HepG2	liver:	n/a
30	chr11:32452513-32452563	K562	blood:	n/a
31	chr11:32452513-32452563	RPTEC	kidney:	n/a
32	chr11:32452513-32452563	HMEC	breast:	n/a
33	chr11:32452513-32452563	A549	lung:	n/a
34	chr11:32452513-32452563	GM12891	blood:	n/a
35	chr11:32452513-32452563	CMK	blood:	n/a
36	chr11:32452513-32452563	HCT-116	colon:	n/a
37	chr11:32452513-32452563	LNCaP	prostate:	n/a
38	chr11:32452513-32452563	GM12892	blood:	n/a
39	chr11:32452513-32452563	BJ	skin:	n/a
40	chr11:32452513-32452563	Hepatocyte	liver:	n/a
41	chr11:32452513-32452563	SAEC	small airway:	n/a
42	chr11:32452513-32452563	IMR90	lung:	fetal
43	chr11:32452513-32452563	NHBE	bronchial:	n/a
44	chr11:32452513-32452563	HRPEpiC	eye:	n/a
45	chr11:32452513-32452563	SK-N-SH	brain:	n/a
46	chr11:32452513-32452563	HEK293	kidney:	embryo
47	chr11:32452513-32452563	Jurkat	blood:	n/a
48	chr11:32452513-32452563	AG09319	gingival:	n/a
49	chr11:32452513-32452563	MCF-7	breast:	n/a
50	chr11:32452513-32452563	HCF	heart:	n/a

No data

Variant related genes	Relation type
WT1-AS	TF binding region
WT1	TF binding region
WT1-AS	CpG island
WT1	CpG island

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10767934	0.80[EUR][1000 genomes]
rs10835913	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10835914	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10835915	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11031778	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11031787	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11031788	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11031790	0.82[AMR][1000 genomes]
rs1569776	0.80[EUR][1000 genomes]
rs1799925	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2234585	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2418912	0.83[AMR][1000 genomes]
rs34163689	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3847589	0.80[EUR][1000 genomes]
rs3858449	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858451	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4140414	0.80[EUR][1000 genomes]
rs5030141	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030171	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5030193	0.81[AMR][1000 genomes]
rs5030234	0.80[EUR][1000 genomes]
rs5030270	0.81[EUR][1000 genomes]
rs59518979	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61889251	0.82[AMR][1000 genomes]
rs61889255	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61889256	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832108	chr11:32395937-32560583	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1044547	chr11:32435753-32465233	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2753303	chr11:32447324-32494924	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1051559	chr11:32447347-32465233	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32448800-32454800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
2	chr11:32450200-32457400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:32451200-32453200	Weak transcription	K562	blood
4	chr11:32451600-32452600	Active TSS	Ovary	ovary
5	chr11:32451800-32452800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
6	chr11:32451800-32452800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr11:32451800-32452800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr11:32452000-32452600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:32452000-32452600	Active TSS	Gastric	stomach
10	chr11:32452000-32452800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:32452000-32452800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr11:32452000-32452800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:32452000-32452800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr11:32452000-32452800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:32452000-32452800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:32452000-32452800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
17	chr11:32452000-32452800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
18	chr11:32452000-32453000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr11:32452000-32453000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:32452000-32453000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
21	chr11:32452200-32452600	Bivalent Enhancer	Brain Germinal Matrix	brain
22	chr11:32452200-32452600	Flanking Active TSS	Right Ventricle	heart
23	chr11:32452200-32452800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:32452200-32452800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr11:32452200-32452800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:32452200-32452800	Bivalent Enhancer	Fetal Stomach	stomach
27	chr11:32452200-32453000	Bivalent Enhancer	Liver	Liver
28	chr11:32452200-32453200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr11:32452200-32453200	Active TSS	Right Atrium	heart
30	chr11:32452200-32454400	Active TSS	Fetal Kidney	kidney
31	chr11:32452400-32452600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:32452400-32452600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:32452400-32452600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:32452400-32452600	Bivalent Enhancer	Fetal Brain Male	brain
35	chr11:32452400-32452800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:32452400-32452800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr11:32452400-32452800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
38	chr11:32452400-32452800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:32452400-32452800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:32452400-32452800	Bivalent Enhancer	Colonic Mucosa	Colon
41	chr11:32452400-32452800	Bivalent Enhancer	Fetal Intestine Small	intestine
42	chr11:32452400-32452800	Enhancers	Pancreas	Pancrea
43	chr11:32452400-32453000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:32452400-32453000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr11:32452400-32453000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr11:32452400-32453000	Bivalent Enhancer	HMEC	breast

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