Variant report

Variant	nsv523907
Chromosome Location	chr12:31944475-31948265
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:551)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:65 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:31944979-31945065	GM19238	blood:	n/a	n/a
2	CTCF	chr12:31944989-31945049	GM12891	blood:	n/a	n/a
3	CTCF	chr12:31944928-31945070	MCF-7	breast:	n/a	n/a
4	CTCF	chr12:31944899-31945068	MCF-7	breast:	n/a	n/a
5	CTCF	chr12:31944814-31945089	MCF-7	breast:	n/a	n/a
6	CTCF	chr12:31944945-31945036	GM12892	blood:	n/a	n/a
7	CTCF	chr12:31944947-31945063	MCF-7	breast:	n/a	n/a
8	CTCF	chr12:31944919-31945069	MCF-7	breast:	n/a	n/a
9	CTCF	chr12:31944940-31945050	Gliobla	brain:	n/a	n/a
10	CTCF	chr12:31944755-31944825	Fibrobl	skin:	n/a	n/a
11	CTCF	chr12:31944740-31944773	MCF-7	breast:	n/a	n/a
12	CTCF	chr12:31944802-31944812	MCF-7	breast:	n/a	n/a
13	CTCF	chr12:31944751-31944772	MCF-7	breast:	n/a	n/a
14	HEY1	chr12:31944221-31945271	K562	blood:	n/a	n/a
15	HEY1	chr12:31944790-31944934	HepG2	liver:	n/a	n/a
16	HEY1	chr12:31944224-31945180	K562	blood:	n/a	n/a
17	HEY1	chr12:31944992-31945198	HepG2	liver:	n/a	n/a
18	HEY1	chr12:31945021-31945162	HepG2	liver:	n/a	n/a
19	MYC	chr12:31944743-31944795	MCF-7	breast:	n/a	n/a
20	MYC	chr12:31947465-31947660	K562	blood:	n/a	n/a
21	MYC	chr12:31944783-31944824	MCF-7	breast:	n/a	n/a
22	MYC	chr12:31944775-31944782	MCF-7	breast:	n/a	n/a
23	POLR2A	chr12:31943633-31945107	MCF-7	breast:	n/a	n/a
24	POLR2A	chr12:31944585-31945148	GM12892	blood:	n/a	n/a
25	POLR2A	chr12:31944409-31944857	ProgFib	skin:	n/a	n/a
26	POLR2A	chr12:31945108-31945110	HepG2	liver:	n/a	n/a
27	POLR2A	chr12:31944291-31945222	GM12891	blood:	n/a	n/a
28	POLR2A	chr12:31943924-31945147	GM12878	blood:	n/a	n/a
29	POLR2A	chr12:31944407-31944574	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr12:31944626-31944907	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr12:31944606-31945180	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr12:31944544-31945144	GM12892	blood:	n/a	n/a
33	POLR2A	chr12:31944239-31944571	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr12:31944580-31945168	GM12891	blood:	n/a	n/a
35	POLR2A	chr12:31944680-31945225	MCF-7	breast:	n/a	n/a
36	POLR2A	chr12:31944582-31945400	GM12892	blood:	n/a	n/a
37	POLR2A	chr12:31944850-31944959	A549	lung:	n/a	n/a
38	POLR2A	chr12:31944680-31945051	MCF-7	breast:	n/a	n/a
39	POLR2A	chr12:31944550-31945204	GM12891	blood:	n/a	n/a
40	POLR2A	chr12:31944360-31944542	GM12878	blood:	n/a	n/a
41	POLR2A	chr12:31944340-31944599	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr12:31944422-31944841	GM12878	blood:	n/a	n/a
43	POLR2A	chr12:31944652-31944780	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr12:31944580-31944582	HepG2	liver:	n/a	n/a
45	POLR2A	chr12:31944876-31945166	ProgFib	skin:	n/a	n/a
46	POLR2A	chr12:31944216-31945236	GM12892	blood:	n/a	n/a
47	POLR2A	chr12:31944911-31944960	GM12878	blood:	n/a	n/a
48	POLR2A	chr12:31944294-31945103	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr12:31944642-31945191	GM12878	blood:	n/a	n/a
50	POLR2A	chr12:31944577-31945172	H1-hESC	embryonic stem cell:	n/a	n/a

(count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:31946408-31946458	HPAEpiC	pulmonary alveolar:	n/a
2	chr12:31944836-31944886	HCF	heart:	n/a
3	chr12:31946408-31946458	HPAEpiC	pulmonary alveolar:	n/a
4	chr12:31944836-31944886	HCF	heart:	n/a
5	chr12:31946434-31946484	SK-N-SH	brain:	n/a
6	chr12:31946408-31946458	SAEC	small airway:	n/a
7	chr12:31945075-31945125	Jurkat	blood:	n/a
8	chr12:31944836-31944886	HRE	kidney:	n/a
9	chr12:31946408-31946458	HRCEpiC	kidney:	n/a
10	chr12:31946408-31946458	K562	blood:	n/a
11	chr12:31945118-31945168	PANC-1	pancreas:	n/a
12	chr12:31944807-31944857	HNPCEpiC	eye:	n/a
13	chr12:31945075-31945125	HAEpiC	amniotic membrane:	n/a
14	chr12:31946262-31946312	LNCaP	prostate:	n/a
15	chr12:31946262-31946312	GM19239	blood:	n/a
16	chr12:31946434-31946484	BJ	skin:	n/a
17	chr12:31946408-31946458	NB4	blood:	n/a
18	chr12:31944836-31944886	NHDF-neo	bronchial:	n/a
19	chr12:31945286-31945336	HEK293	kidney:	embryo
20	chr12:31945286-31945336	AG09309	skin:	n/a
21	chr12:31945075-31945125	PrEC	prostate:	n/a
22	chr12:31945118-31945168	HCF	heart:	n/a
23	chr12:31946434-31946484	NHBE	bronchial:	n/a
24	chr12:31945286-31945336	GM12878	blood:	n/a
25	chr12:31945075-31945125	NHDF-neo	bronchial:	n/a
26	chr12:31944807-31944857	Hepatocyte	liver:	n/a
27	chr12:31946434-31946484	Hepatocyte	liver:	n/a
28	chr12:31944556-31944606	NHDF-neo	bronchial:	n/a
29	chr12:31945075-31945125	NB4	blood:	n/a
30	chr12:31946262-31946312	MCF10A-Er-Src	breast:	n/a
31	chr12:31946262-31946312	HNPCEpiC	eye:	n/a
32	chr12:31945075-31945125	GM12891	blood:	n/a
33	chr12:31944836-31944886	SKMC	muscle:	n/a
34	chr12:31944556-31944606	T-47D	breast:	n/a
35	chr12:31945286-31945336	PrEC	prostate:	n/a
36	chr12:31945075-31945125	H1-hESC	embryonic stem cell:	embryo
37	chr12:31945118-31945168	GM12892	blood:	n/a
38	chr12:31945075-31945125	U87	brain:	n/a
39	chr12:31946434-31946484	HCM	heart:	n/a
40	chr12:31944836-31944886	PrEC	prostate:	n/a
41	chr12:31944807-31944857	HepG2	liver:	n/a
42	chr12:31945286-31945336	K562	blood:	n/a
43	chr12:31945118-31945168	NT2-D1	testis:	n/a
44	chr12:31946434-31946484	AG04449	skin:	fetal
45	chr12:31945118-31945168	HMEC	breast:	n/a
46	chr12:31945075-31945125	NT2-D1	testis:	n/a
47	chr12:31946262-31946312	AoSMC	blood vessel:	n/a
48	chr12:31944836-31944886	GM06990	blood:	n/a
49	chr12:31946262-31946312	ECC-1	luminal epithelium:	n/a
50	chr12:31944556-31944606	Hepatocyte	liver:	n/a

No data

Variant related genes	Relation type
H3F3C	TF binding region
H3F3C	CpG island

Extended variants
information (count: 184 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11051595	chr12:31944475-31944476	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112907660	chr12:31944476-31944477	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs578257793	chr12:31944508-31944509	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs373516851	chr12:31944533-31944534	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs11051596	chr12:31944567-31944568	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs138634363	chr12:31944576-31944577	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs572761501	chr12:31944579-31944580	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs143556916	chr12:31944621-31944622	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs541802300	chr12:31944622-31944623	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs540646834	chr12:31944633-31944634	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs368780178	chr12:31944648-31944649	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs372895813	chr12:31944657-31944658	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs368275926	chr12:31944659-31944660	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs377269815	chr12:31944675-31944676	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs142715943	chr12:31944687-31944688	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs3759294	chr12:31944691-31944692	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs558668798	chr12:31944707-31944708	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs369602144	chr12:31944708-31944709	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs147097287	chr12:31944715-31944716	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs563955459	chr12:31944716-31944717	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs112159493	chr12:31944737-31944738	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs540141669	chr12:31944751-31944752	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs548380416	chr12:31944762-31944763	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs113082334	chr12:31944769-31944770	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs144294240	chr12:31944783-31944784	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs541681589	chr12:31944807-31944808	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs563005029	chr12:31944821-31944822	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs148314204	chr12:31944836-31944837	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs141415515	chr12:31944878-31944879	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs372444480	chr12:31944879-31944880	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs150823365	chr12:31944885-31944886	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs150875482	chr12:31944904-31944905	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs201182496	chr12:31944906-31944907	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs144139961	chr12:31944944-31944945	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs376467484	chr12:31944953-31944954	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs146007328	chr12:31944966-31944967	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs370981983	chr12:31944971-31944972	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs368361217	chr12:31944977-31944978	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs3759295	chr12:31944985-31944986	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs7302165	chr12:31944999-31945000	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs7301923	chr12:31945000-31945001	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs370904771	chr12:31945009-31945010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148428845	chr12:31945032-31945033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373518865	chr12:31945049-31945050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375223069	chr12:31945051-31945052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs61745042	chr12:31945064-31945065	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs374678811	chr12:31945068-31945069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371692293	chr12:31945069-31945070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376399688	chr12:31945072-31945073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567948186	chr12:31945075-31945076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	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
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31939200-31947600	Weak transcription	Fetal Kidney	kidney
2	chr12:31941800-31944600	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr12:31942000-31944600	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr12:31942200-31944800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:31942600-31944600	Enhancers	Primary T cells from cord blood	blood
6	chr12:31942600-31944600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:31942600-31944600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr12:31942600-31944600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:31942800-31956600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr12:31943800-31944600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:31943800-31944600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:31944200-31945000	Active TSS	HUVEC	blood vessel
13	chr12:31944200-31949600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:31944400-31949200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:31944400-31949400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr12:31944400-31949400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:31944600-31945200	Enhancers	Primary T cells fromperipheralblood	blood
18	chr12:31944600-31945200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:31944600-31949200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr12:31944600-31949200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:31944600-31949400	Weak transcription	Primary T cells from cord blood	blood
22	chr12:31944600-31949400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr12:31944600-31949400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr12:31944600-31949600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:31944800-31949200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:31945200-31949400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr12:31947600-31947800	Flanking Active TSS	Fetal Kidney	kidney
28	chr12:31947600-31947800	Enhancers	Fetal Thymus	thymus
29	chr12:31947800-31948000	Enhancers	Fetal Kidney	kidney
30	chr12:31948000-31948200	Flanking Active TSS	Fetal Kidney	kidney

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