Variant report

Variant	esv1851844
Chromosome Location	chr12:32929596-32953032
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:32941283-32941671	GM12878	blood:	n/a	n/a
2	BACH1	chr12:32947870-32947974	K562	blood:	n/a	n/a
3	BATF	chr12:32930016-32930338	GM12878	blood:	n/a	n/a
4	BHLHE40	chr12:32930183-32930335	GM12878	blood:	n/a	n/a
5	CTCF	chr12:32941174-32941249	LNCaP	prostate:	n/a	n/a
6	CTCF	chr12:32932350-32932429	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr12:32945580-32945730	GM12878	blood:	n/a	n/a
8	E2F4	chr12:32937361-32937557	MCF10A-Er-Src	breast:	n/a	n/a
9	EBF1	chr12:32933444-32933665	GM12878	blood:	n/a	chr12:32933588-32933599
10	FOS	chr12:32933022-32933226	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr12:32932993-32933293	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr12:32933094-32933240	MCF10A-Er-Src	breast:	n/a	n/a
13	JUN	chr12:32941475-32941538	HepG2	liver:	n/a	chr12:32941477-32941490
14	JUN	chr12:32944033-32944284	HepG2	liver:	n/a	chr12:32944147-32944160
15	JUND	chr12:32941354-32941577	HepG2	liver:	n/a	n/a
16	JUND	chr12:32944017-32944304	HepG2	liver:	n/a	n/a
17	MEF2A	chr12:32929995-32930301	GM12878	blood:	n/a	chr12:32930058-32930069 chr12:32930058-32930073
18	MYC	chr12:32933054-32933089	MCF10A-Er-Src	breast:	n/a	n/a
19	MYC	chr12:32933521-32933717	MCF10A-Er-Src	breast:	n/a	n/a
20	MYC	chr12:32939615-32939674	GM12878	blood:	n/a	n/a
21	NFIC	chr12:32941325-32941731	GM12878	blood:	n/a	n/a
22	POLR2A	chr12:32948567-32948612	MCF-7	breast:	n/a	n/a
23	POLR2A	chr12:32948697-32948812	GM12878	blood:	n/a	n/a
24	POLR2A	chr12:32936503-32936640	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr12:32933983-32934166	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr12:32936673-32936948	HepG2	liver:	n/a	n/a
27	POLR2A	chr12:32939703-32939961	HepG2	liver:	n/a	n/a
28	POLR2A	chr12:32937633-32937643	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr12:32948646-32948652	HepG2	liver:	n/a	n/a
30	POLR2A	chr12:32939616-32939623	HepG2	liver:	n/a	n/a
31	RUNX3	chr12:32930086-32930506	GM12878	blood:	n/a	n/a
32	RUNX3	chr12:32941263-32941564	GM12878	blood:	n/a	n/a
33	RUNX3	chr12:32941261-32941731	GM12878	blood:	n/a	n/a
34	RXRA	chr12:32936828-32936998	HepG2	liver:	n/a	n/a
35	STAT3	chr12:32930245-32930281	GM12878	blood:	n/a	n/a
36	STAT3	chr12:32931812-32932200	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr12:32945001-32945037	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr12:32942929-32943070	MCF10A-Er-Src	breast:	n/a	n/a
39	TBL1XR1	chr12:32930223-32930382	GM12878	blood:	n/a	n/a
40	USF1	chr12:32932229-32932571	H1-hESC	embryonic stem cell:	n/a	n/a
41	USF1	chr12:32932179-32932571	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:32944111-32944161	U87	brain:	n/a
2	chr12:32944111-32944161	HMEC	breast:	n/a
3	chr12:32944111-32944161	AG04449	skin:	fetal
4	chr12:32944111-32944161	PrEC	prostate:	n/a
5	chr12:32944111-32944161	HL-60	blood:	n/a
6	chr12:32944111-32944161	GM12878	blood:	n/a
7	chr12:32944111-32944161	BE2_C	brain:	n/a
8	chr12:32944111-32944161	HCM	heart:	n/a
9	chr12:32944111-32944161	ECC-1	luminal epithelium:	n/a
10	chr12:32944111-32944161	HIPEpiC	eye:	n/a
11	chr12:32944111-32944161	HEEpiC	esophagus:	n/a
12	chr12:32944111-32944161	Hepatocyte	liver:	n/a
13	chr12:32944111-32944161	BJ	skin:	n/a
14	chr12:32944111-32944161	Hela-S3	cervix:	n/a
15	chr12:32944111-32944161	HUVEC	blood vessel:	n/a
16	chr12:32944111-32944161	Jurkat	blood:	n/a
17	chr12:32944111-32944161	LNCaP	prostate:	n/a
18	chr12:32944111-32944161	AG04450	lung:	fetal
19	chr12:32944111-32944161	ProgFib	skin:	n/a
20	chr12:32944111-32944161	SKMC	muscle:	n/a
21	chr12:32944111-32944161	PFSK-1	brain:	n/a
22	chr12:32944111-32944161	NT2-D1	testis:	n/a
23	chr12:32944111-32944161	AG09309	skin:	n/a
24	chr12:32944111-32944161	SK-N-MC	brain:	n/a
25	chr12:32944111-32944161	A549	lung:	n/a
26	chr12:32944111-32944161	HepG2	liver:	n/a
27	chr12:32944111-32944161	HCPEpiC	choroid plexus:	n/a
28	chr12:32944111-32944161	HCF	heart:	n/a
29	chr12:32944111-32944161	NH-A	brain:	n/a
30	chr12:32944111-32944161	HRCEpiC	kidney:	n/a
31	chr12:32944111-32944161	HNPCEpiC	eye:	n/a
32	chr12:32944111-32944161	HAEpiC	amniotic membrane:	n/a
33	chr12:32944111-32944161	GM19239	blood:	n/a
34	chr12:32944111-32944161	Caco-2	colon:	n/a
35	chr12:32944111-32944161	HRPEpiC	eye:	n/a
36	chr12:32944111-32944161	RPTEC	kidney:	n/a
37	chr12:32944111-32944161	H1-hESC	embryonic stem cell:	embryo
38	chr12:32944111-32944161	GM06990	blood:	n/a
39	chr12:32944111-32944161	HEK293	kidney:	embryo
40	chr12:32944111-32944161	CMK	blood:	n/a
41	chr12:32944111-32944161	AG10803	skin:	n/a
42	chr12:32944111-32944161	HRE	kidney:	n/a
43	chr12:32944111-32944161	SK-N-SH_RA	brain:	n/a
44	chr12:32944111-32944161	SK-N-SH	brain:	n/a
45	chr12:32944111-32944161	SAEC	small airway:	n/a
46	chr12:32944111-32944161	PANC-1	pancreas:	n/a
47	chr12:32944111-32944161	NB4	blood:	n/a
48	chr12:32944111-32944161	AG09319	gingival:	n/a
49	chr12:32944111-32944161	HCT-116	colon:	n/a
50	chr12:32944111-32944161	GM12892	blood:	n/a

No data

Variant related genes	Relation type
PKP2	TF binding region
PKP2	CpG island

Extended variants
information (count: 1007 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1007 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7133996	chr12:32929596-32929597	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574029090	chr12:32929695-32929696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371130823	chr12:32929785-32929786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs59381203	chr12:32929801-32929802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186985030	chr12:32929833-32929834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564029231	chr12:32929838-32929839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577901826	chr12:32929882-32929883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539822126	chr12:32929897-32929898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560112360	chr12:32929898-32929899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528945836	chr12:32929939-32929940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549107108	chr12:32929940-32929941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563026131	chr12:32929993-32929994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368637658	chr12:32930004-32930005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531942139	chr12:32930029-32930030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552046251	chr12:32930053-32930054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs80006434	chr12:32930083-32930084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12317864	chr12:32930130-32930131	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs547448888	chr12:32930139-32930140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567667396	chr12:32930172-32930173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191419790	chr12:32930179-32930180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74581448	chr12:32930198-32930199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183333518	chr12:32930208-32930209	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs368318003	chr12:32930220-32930221	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs537633753	chr12:32930224-32930225	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs372322011	chr12:32930241-32930242	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs557557085	chr12:32930249-32930250	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs573809735	chr12:32930305-32930306	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs185605623	chr12:32930367-32930368	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs540534641	chr12:32930375-32930376	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs10506101	chr12:32930378-32930379	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs368294133	chr12:32930398-32930399	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs573586786	chr12:32930513-32930514	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs7959288	chr12:32930537-32930538	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs562564782	chr12:32930548-32930549	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs531471931	chr12:32930665-32930666	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs551982810	chr12:32930728-32930729	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs189970468	chr12:32930755-32930756	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs116050358	chr12:32930769-32930770	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs12582213	chr12:32930770-32930771	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs182247403	chr12:32930805-32930806	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs536235220	chr12:32930876-32930877	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs549798405	chr12:32930880-32930881	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs140499034	chr12:32930888-32930889	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs61926232	chr12:32930889-32930890	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs538766801	chr12:32930960-32930961	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs148551655	chr12:32930963-32930964	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs146704187	chr12:32930964-32930965	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs557631185	chr12:32930972-32930973	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs570985289	chr12:32930977-32930978	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs57164153	chr12:32930981-32930982	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32925000-32938600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:32927200-32933800	Weak transcription	Stomach Mucosa	stomach
3	chr12:32928400-32929800	Enhancers	Fetal Intestine Small	intestine
4	chr12:32928600-32930400	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr12:32928800-32929800	Enhancers	Fetal Intestine Large	intestine
6	chr12:32929000-32929600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:32929000-32929600	Enhancers	HMEC	breast
8	chr12:32929000-32929800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:32929200-32933200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:32929400-32937200	Weak transcription	NHEK	skin
11	chr12:32929400-32942200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr12:32929600-32941600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:32929800-32941200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:32929800-32941600	Weak transcription	Fetal Intestine Small	intestine
15	chr12:32930200-32931000	Enhancers	Fetal Heart	heart
16	chr12:32930200-32931600	Bivalent Enhancer	Fetal Lung	lung
17	chr12:32930400-32930800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:32930400-32932400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr12:32931000-32932200	Weak transcription	Fetal Heart	heart
20	chr12:32931200-32931400	Enhancers	Left Ventricle	heart
21	chr12:32931400-32942200	Weak transcription	Left Ventricle	heart
22	chr12:32932000-32934200	Enhancers	Fetal Lung	lung
23	chr12:32932200-32932800	Enhancers	Fetal Heart	heart
24	chr12:32932400-32932600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:32932400-32932800	Enhancers	Ovary	ovary
26	chr12:32932400-32933200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr12:32932600-32934200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:32932800-32934000	Weak transcription	Ovary	ovary
29	chr12:32932800-32935800	Weak transcription	Fetal Heart	heart
30	chr12:32933200-32933400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:32933200-32944800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr12:32933400-32935200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:32933800-32934000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr12:32934000-32934200	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr12:32934000-32934200	Enhancers	Ovary	ovary
36	chr12:32934000-32944000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:32934200-32935800	Weak transcription	Fetal Lung	lung
38	chr12:32934200-32945200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr12:32935800-32936000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:32935800-32936000	Enhancers	Fetal Lung	lung
41	chr12:32935800-32936400	Enhancers	Fetal Heart	heart
42	chr12:32936000-32936200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:32936000-32936200	Enhancers	Fetal Stomach	stomach
44	chr12:32936000-32937200	Bivalent Enhancer	Fetal Lung	lung
45	chr12:32936000-32938400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:32936200-32948800	Weak transcription	Fetal Stomach	stomach
47	chr12:32936400-32947000	Weak transcription	Fetal Heart	heart
48	chr12:32937000-32938400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:32937200-32937400	Enhancers	NHEK	skin
50	chr12:32937400-32938800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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