Variant report

Variant	nsv526287
Chromosome Location	chr12:32980017-32987975
allele	n/a
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	chr12:32982680-32982749	Fibrobl	skin:	n/a	n/a
2	EP300	chr12:32979141-32980666	SK-N-SH	brain:	n/a	chr12:32980393-32980407
3	EP300	chr12:32979762-32980104	SK-N-SH_RA	brain:	n/a	n/a
4	FOXA1	chr12:32983292-32983423	T-47D	breast:	n/a	n/a
5	GATA2	chr12:32980985-32981281	SH-SY5Y	brain:	n/a	chr12:32981210-32981217 chr12:32981209-32981219 chr12:32981210-32981217 chr12:32981210-32981217
6	GATA2	chr12:32979703-32980313	SH-SY5Y	brain:	n/a	n/a
7	GATA3	chr12:32981330-32981604	SH-SY5Y	brain:	n/a	n/a
8	GATA3	chr12:32979254-32980278	SH-SY5Y	brain:	n/a	n/a
9	GATA3	chr12:32979723-32980222	SK-N-SH	brain:	n/a	n/a
10	JUN	chr12:32987145-32987223	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr12:32981993-32982102	HepG2	liver:	n/a	n/a
12	POLR2A	chr12:32979750-32980024	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr12:32986025-32986115	HepG2	liver:	n/a	n/a
14	POLR2A	chr12:32983149-32983245	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:32985918-32985972	HepG2	liver:	n/a	n/a
16	STAT3	chr12:32984375-32984622	MCF10A-Er-Src	breast:	n/a	chr12:32984535-32984546
17	STAT3	chr12:32980672-32980862	MCF10A-Er-Src	breast:	n/a	n/a
18	TCF12	chr12:32979668-32980276	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32978242..32979816-chr12:32981805..32984184,2	MCF-7	breast:

Variant related genes	Relation type
PKP2	TF binding region

Extended variants
information (count: 300 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10506100	chr12:32980017-32980018	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189287820	chr12:32980050-32980051	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs142779932	chr12:32980057-32980058	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs539665466	chr12:32980060-32980061	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs182178982	chr12:32980067-32980068	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs567063282	chr12:32980096-32980097	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs536188249	chr12:32980115-32980116	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs555341749	chr12:32980116-32980117	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs186140759	chr12:32980117-32980118	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs571767857	chr12:32980128-32980129	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs2045172	chr12:32980161-32980162	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs557847358	chr12:32980255-32980256	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs576941578	chr12:32980332-32980333	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs2389109	chr12:32980382-32980383	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs559538805	chr12:32980407-32980408	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs528372820	chr12:32980443-32980444	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs375172763	chr12:32980452-32980453	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs190610081	chr12:32980454-32980455	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs561650587	chr12:32980571-32980572	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs118167849	chr12:32980604-32980605	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs550665024	chr12:32980605-32980606	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs373195556	chr12:32980683-32980684	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs141773065	chr12:32980726-32980727	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs564027805	chr12:32980744-32980745	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs146051623	chr12:32980751-32980752	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs73090752	chr12:32980758-32980759	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs138867595	chr12:32980763-32980764	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs141999328	chr12:32980798-32980799	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs568878629	chr12:32980862-32980863	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs537872772	chr12:32980870-32980871	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs557784190	chr12:32980900-32980901	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs548263637	chr12:32980921-32980922	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs182831606	chr12:32981020-32981021	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs534348887	chr12:32981021-32981022	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs375573513	chr12:32981058-32981059	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs552870278	chr12:32981085-32981086	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs573027985	chr12:32981200-32981201	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs200573718	chr12:32981243-32981244	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs34321778	chr12:32981288-32981289	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs561982303	chr12:32981372-32981373	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs575262296	chr12:32981421-32981422	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs150848492	chr12:32981423-32981424	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs185656838	chr12:32981451-32981452	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs552840978	chr12:32981468-32981469	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs78012925	chr12:32981511-32981512	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs546706437	chr12:32981513-32981514	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs191194533	chr12:32981555-32981556	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs117135313	chr12:32981561-32981562	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs535236949	chr12:32981590-32981591	Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs149924854	chr12:32981632-32981633	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21272361	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32941800-33033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:32943800-33026800	Weak transcription	Fetal Kidney	kidney
3	chr12:32944200-32989400	Weak transcription	Hela-S3	cervix
4	chr12:32949200-32987000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:32949200-33007800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:32961000-32989800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:32963000-32986800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:32965000-32996200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:32971200-32981400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:32972000-33029000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:32973000-32989600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:32974000-32980800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:32974000-32987000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:32974200-33030400	Weak transcription	Right Ventricle	heart
15	chr12:32974400-32992600	Weak transcription	Pancreas	Pancrea
16	chr12:32974600-32981600	Weak transcription	Gastric	stomach
17	chr12:32974600-32987000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:32974600-32987000	Weak transcription	Colonic Mucosa	Colon
19	chr12:32974600-32991000	Weak transcription	Fetal Stomach	stomach
20	chr12:32974600-33004400	Weak transcription	Ovary	ovary
21	chr12:32975800-33020000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:32976000-32981000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:32976000-32983000	Weak transcription	Placenta	Placenta
24	chr12:32976000-32986600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:32976000-32986800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:32976200-32982800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:32976200-32987000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:32976400-32987000	Weak transcription	Liver	Liver
29	chr12:32977400-32982200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:32977400-32989600	Weak transcription	HMEC	breast
31	chr12:32977600-32981000	Weak transcription	HepG2	liver
32	chr12:32977600-32981000	Weak transcription	NHEK	skin
33	chr12:32977600-32982800	Weak transcription	Fetal Intestine Large	intestine
34	chr12:32977600-32986600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:32977600-32986600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:32977600-32991000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr12:32977800-32980800	Enhancers	Fetal Heart	heart
38	chr12:32977800-32982800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr12:32977800-32984000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr12:32979000-32983400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:32979200-32980800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:32979200-32981000	Weak transcription	Left Ventricle	heart
43	chr12:32979200-32982000	Weak transcription	Fetal Intestine Small	intestine
44	chr12:32979600-32981000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:32979600-32982000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr12:32979800-32980200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:32979800-32980400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:32980000-32980200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:32980000-32981200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:32980000-32981200	Weak transcription	Placenta Amnion	Placenta Amnion

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