Variant report

Variant	rs73262629
Chromosome Location	chr12:10336887-10336888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:10336800-10336950	AG10803	skin:	n/a	n/a
2	CTCF	chr12:10336740-10336890	HCPEpiC	choroid plexus:	n/a	n/a
3	CTCF	chr12:10336820-10336970	HPF	lung:	n/a	n/a
4	CTCF	chr12:10336820-10336970	NHDF-neo	bronchial:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:10336861-10336911	T-47D	breast:	n/a
2	chr12:10336861-10336911	Caco-2	colon:	n/a
3	chr12:10336861-10336911	GM19239	blood:	n/a
4	chr12:10336861-10336911	PFSK-1	brain:	n/a
5	chr12:10336861-10336911	PrEC	prostate:	n/a
6	chr12:10336861-10336911	AG09319	gingival:	n/a
7	chr12:10336861-10336911	AG09309	skin:	n/a
8	chr12:10336861-10336911	HepG2	liver:	n/a
9	chr12:10336861-10336911	HEK293	kidney:	embryo
10	chr12:10336861-10336911	MCF-7	breast:	n/a
11	chr12:10336861-10336911	GM12891	blood:	n/a
12	chr12:10336861-10336911	HRCEpiC	kidney:	n/a
13	chr12:10336861-10336911	GM12878	blood:	n/a
14	chr12:10336861-10336911	HEEpiC	esophagus:	n/a
15	chr12:10336861-10336911	NB4	blood:	n/a
16	chr12:10336861-10336911	SK-N-SH_RA	brain:	n/a
17	chr12:10336861-10336911	HL-60	blood:	n/a
18	chr12:10336861-10336911	HCT-116	colon:	n/a
19	chr12:10336861-10336911	BJ	skin:	n/a
20	chr12:10336861-10336911	AG04449	skin:	fetal
21	chr12:10336861-10336911	IMR90	lung:	fetal
22	chr12:10336861-10336911	HCM	heart:	n/a
23	chr12:10336861-10336911	Jurkat	blood:	n/a
24	chr12:10336861-10336911	GM06990	blood:	n/a
25	chr12:10336861-10336911	H1-hESC	embryonic stem cell:	embryo
26	chr12:10336861-10336911	NT2-D1	testis:	n/a
27	chr12:10336861-10336911	ovcar-3	ovarian:	n/a
28	chr12:10336861-10336911	HCPEpiC	choroid plexus:	n/a
29	chr12:10336861-10336911	AG04450	lung:	fetal
30	chr12:10336861-10336911	SK-N-SH	brain:	n/a
31	chr12:10336861-10336911	CMK	blood:	n/a
32	chr12:10336861-10336911	AoSMC	blood vessel:	n/a
33	chr12:10336861-10336911	K562	blood:	n/a
34	chr12:10336861-10336911	HPAEpiC	pulmonary alveolar:	n/a
35	chr12:10336861-10336911	AG10803	skin:	n/a
36	chr12:10336861-10336911	NHDF-neo	bronchial:	n/a
37	chr12:10336861-10336911	RPTEC	kidney:	n/a
38	chr12:10336861-10336911	HNPCEpiC	eye:	n/a
39	chr12:10336861-10336911	NH-A	brain:	n/a
40	chr12:10336861-10336911	HCF	heart:	n/a
41	chr12:10336861-10336911	A549	lung:	n/a
42	chr12:10336861-10336911	SKMC	muscle:	n/a
43	chr12:10336861-10336911	NHBE	bronchial:	n/a
44	chr12:10336861-10336911	ProgFib	skin:	n/a
45	chr12:10336861-10336911	LNCaP	prostate:	n/a
46	chr12:10336861-10336911	HRPEpiC	eye:	n/a
47	chr12:10336861-10336911	HAEpiC	amniotic membrane:	n/a
48	chr12:10336861-10336911	HRE	kidney:	n/a
49	chr12:10336861-10336911	GM12892	blood:	n/a
50	chr12:10336861-10336911	MCF10A-Er-Src	breast:	n/a

No data

Variant related genes	Relation type
TMEM52B	TF binding region
TMEM52B	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11829333	1.00[AMR][1000 genomes]
rs11835291	1.00[AMR][1000 genomes]
rs11835576	1.00[AMR][1000 genomes]
rs11836012	1.00[AMR][1000 genomes]
rs34441432	1.00[AMR][1000 genomes]
rs34593852	1.00[AMR][1000 genomes]
rs35297885	1.00[AMR][1000 genomes]
rs35557371	1.00[AMR][1000 genomes]
rs35863710	1.00[AMR][1000 genomes]
rs7132516	1.00[AMR][1000 genomes]
rs73262620	0.88[AFR][1000 genomes]
rs73262623	0.96[AFR][1000 genomes]
rs73262645	0.83[AFR][1000 genomes]
rs73262654	0.83[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10329600-10339000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:10332800-10337000	Weak transcription	Fetal Intestine Small	intestine
3	chr12:10333400-10337200	Enhancers	Hela-S3	cervix
4	chr12:10334000-10337000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:10334600-10340200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:10334800-10337200	Enhancers	NHDF-Ad	bronchial
7	chr12:10334800-10339000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr12:10335200-10337000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:10335600-10337000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:10335800-10337200	Weak transcription	A549	lung
11	chr12:10336000-10337200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:10336000-10342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:10336000-10343200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:10336400-10337200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:10336600-10337200	Enhancers	Placenta	Placenta
16	chr12:10336600-10337400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:10336600-10337800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr12:10336600-10338000	Enhancers	Fetal Stomach	stomach
19	chr12:10336800-10337000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:10336800-10337200	Enhancers	Colonic Mucosa	Colon
21	chr12:10336800-10337200	Enhancers	Fetal Lung	lung
22	chr12:10336800-10337200	Enhancers	Ovary	ovary
23	chr12:10336800-10337200	Flanking Active TSS	NHLF	lung
24	chr12:10336800-10337400	Enhancers	Osteobl	bone
25	chr12:10336800-10337600	Enhancers	Primary hematopoietic stem cells	blood
26	chr12:10336800-10337600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:10336800-10337600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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