Variant report

Variant	nsv983315
Chromosome Location	chr12:43030595-43031580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:183)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:43030939-43030957	GM12891	blood:	n/a	n/a
2	CTCF	chr12:43030904-43030941	Fibrobl	skin:	n/a	n/a
3	CTCF	chr12:43031000-43031007	MCF-7	breast:	n/a	n/a
4	CTCF	chr12:43031010-43031045	MCF-7	breast:	n/a	n/a
5	HEY1	chr12:43030843-43031068	K562	blood:	n/a	n/a
6	HEY1	chr12:43030866-43031003	HepG2	liver:	n/a	n/a
7	HEY1	chr12:43030708-43031038	HepG2	liver:	n/a	n/a
8	MYC	chr12:43030905-43030970	MCF-7	breast:	n/a	n/a
9	MYC	chr12:43030791-43030974	MCF-7	breast:	n/a	n/a
10	MYC	chr12:43030871-43030980	MCF-7	breast:	n/a	n/a
11	POLR2A	chr12:43030741-43030987	MCF-7	breast:	n/a	n/a
12	POLR2A	chr12:43030738-43031028	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr12:43030881-43031017	A549	lung:	n/a	n/a
14	POLR2A	chr12:43030849-43030991	HepG2	liver:	n/a	n/a
15	POLR2A	chr12:43030890-43030975	A549	lung:	n/a	n/a
16	POLR2A	chr12:43030830-43031015	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:43030858-43031012	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr12:43030722-43030980	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr12:43030770-43030992	MCF-7	breast:	n/a	n/a
20	POLR2A	chr12:43030887-43030981	A549	lung:	n/a	n/a
21	POLR2A	chr12:43030738-43030985	K562	blood:	n/a	n/a
22	POLR2A	chr12:43030888-43031010	HepG2	liver:	n/a	n/a
23	POLR2A	chr12:43030794-43030962	HepG2	liver:	n/a	n/a
24	POLR2A	chr12:43030847-43031069	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr12:43030771-43031060	GM12892	blood:	n/a	n/a
26	POLR2A	chr12:43030692-43031067	MCF-7	breast:	n/a	n/a
27	POLR2A	chr12:43030847-43031011	A549	lung:	n/a	n/a
28	POLR2A	chr12:43030846-43031007	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr12:43030733-43031072	Gliobla	brain:	n/a	n/a
30	POLR2A	chr12:43030869-43031005	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr12:43030694-43030964	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr12:43031019-43031088	MCF-7	breast:	n/a	n/a
33	POLR2A	chr12:43030840-43030993	GM12878	blood:	n/a	n/a
34	POLR2A	chr12:43030878-43030991	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:43030781-43030981	A549	lung:	n/a	n/a
36	POLR2A	chr12:43030811-43031049	GM12878	blood:	n/a	n/a
37	REST	chr12:43030896-43030989	GM12878	blood:	n/a	n/a
38	TAF1	chr12:43030835-43031038	H1-hESC	embryonic stem cell:	n/a	n/a
39	TAF1	chr12:43030844-43031005	H1-hESC	embryonic stem cell:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:43031000-43031050	Caco-2	colon:	n/a
2	chr12:43031029-43031079	NHDF-neo	bronchial:	n/a
3	chr12:43030949-43030999	HEK293	kidney:	embryo
4	chr12:43030949-43030999	CMK	blood:	n/a
5	chr12:43030949-43030999	SAEC	small airway:	n/a
6	chr12:43031029-43031079	T-47D	breast:	n/a
7	chr12:43030949-43030999	Caco-2	colon:	n/a
8	chr12:43030949-43030999	U87	brain:	n/a
9	chr12:43030949-43030999	AG09309	skin:	n/a
10	chr12:43031000-43031050	SAEC	small airway:	n/a
11	chr12:43030949-43030999	A549	lung:	n/a
12	chr12:43031029-43031079	AG09319	gingival:	n/a
13	chr12:43031000-43031050	IMR90	lung:	fetal
14	chr12:43030949-43030999	ovcar-3	ovarian:	n/a
15	chr12:43031029-43031079	SKMC	muscle:	n/a
16	chr12:43031029-43031079	NT2-D1	testis:	n/a
17	chr12:43031000-43031050	BE2_C	brain:	n/a
18	chr12:43030949-43030999	HEEpiC	esophagus:	n/a
19	chr12:43031000-43031050	AG09309	skin:	n/a
20	chr12:43031000-43031050	HCM	heart:	n/a
21	chr12:43030949-43030999	MCF10A-Er-Src	breast:	n/a
22	chr12:43030949-43030999	HL-60	blood:	n/a
23	chr12:43031029-43031079	NHBE	bronchial:	n/a
24	chr12:43031000-43031050	ProgFib	skin:	n/a
25	chr12:43030949-43030999	HAEpiC	amniotic membrane:	n/a
26	chr12:43031000-43031050	SK-N-SH	brain:	n/a
27	chr12:43030949-43030999	HIPEpiC	eye:	n/a
28	chr12:43031029-43031079	HEEpiC	esophagus:	n/a
29	chr12:43031000-43031050	A549	lung:	n/a
30	chr12:43031000-43031050	MCF10A-Er-Src	breast:	n/a
31	chr12:43030949-43030999	PANC-1	pancreas:	n/a
32	chr12:43031000-43031050	SKMC	muscle:	n/a
33	chr12:43030949-43030999	RPTEC	kidney:	n/a
34	chr12:43031000-43031050	SK-N-SH_RA	brain:	n/a
35	chr12:43030949-43030999	ProgFib	skin:	n/a
36	chr12:43031000-43031050	NB4	blood:	n/a
37	chr12:43031000-43031050	ECC-1	luminal epithelium:	n/a
38	chr12:43030949-43030999	HMEC	breast:	n/a
39	chr12:43031029-43031079	SK-N-SH	brain:	n/a
40	chr12:43031029-43031079	HL-60	blood:	n/a
41	chr12:43030949-43030999	HPAEpiC	pulmonary alveolar:	n/a
42	chr12:43030949-43030999	HCF	heart:	n/a
43	chr12:43030949-43030999	Hela-S3	cervix:	n/a
44	chr12:43031000-43031050	NHBE	bronchial:	n/a
45	chr12:43031029-43031079	HNPCEpiC	eye:	n/a
46	chr12:43031000-43031050	NHDF-neo	bronchial:	n/a
47	chr12:43031000-43031050	K562	blood:	n/a
48	chr12:43031029-43031079	GM19239	blood:	n/a
49	chr12:43031029-43031079	Caco-2	colon:	n/a
50	chr12:43030949-43030999	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42976937..42979133-chr12:43031505..43034362,2	K562	blood:
2	chr12:43020347..43023127-chr12:43029388..43031746,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRICKLE1-3	chr12:43030617-43030913	NONHSAT027786

No data

Variant related genes	Relation type
ENSG00000257405	TF binding region
ENSG00000257405	CpG island
ENSG00000257687	chromatin interactions

Extended variants
information (count: 44 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570670217	chr12:43030666-43030667	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs550737289	chr12:43030672-43030673	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs569100827	chr12:43030694-43030695	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs145189553	chr12:43030705-43030706	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs548546714	chr12:43030716-43030717	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs116852868	chr12:43030740-43030741	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs535022648	chr12:43030764-43030765	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs149174315	chr12:43030789-43030790	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs79463838	chr12:43030796-43030797	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs10467188	chr12:43030867-43030868	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs185593474	chr12:43030874-43030875	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs189595134	chr12:43030878-43030879	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs11540986	chr12:43030928-43030929	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs542905008	chr12:43030950-43030951	Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs561254459	chr12:43030952-43030953	Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs540244328	chr12:43030953-43030954	Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs564764202	chr12:43030999-43031000	Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs532213149	chr12:43031001-43031002	Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs112770645	chr12:43031032-43031033	Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs562666951	chr12:43031041-43031042	Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs529926788	chr12:43031051-43031052	Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs548460640	chr12:43031053-43031054	Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs566795747	chr12:43031067-43031068	Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs181561345	chr12:43031086-43031087	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs546955028	chr12:43031114-43031115	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs571577505	chr12:43031133-43031134	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs539116350	chr12:43031183-43031184	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs557072859	chr12:43031225-43031226	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs186277875	chr12:43031226-43031227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs189085047	chr12:43031250-43031251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs554813367	chr12:43031269-43031270	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs148356692	chr12:43031294-43031295	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs540599907	chr12:43031303-43031304	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs181120266	chr12:43031306-43031307	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541924084	chr12:43031333-43031334	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs576804987	chr12:43031355-43031356	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs10785364	chr12:43031381-43031382	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs111322759	chr12:43031395-43031396	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs529889874	chr12:43031396-43031397	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs552779604	chr12:43031415-43031416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs542062845	chr12:43031436-43031437	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs56376689	chr12:43031524-43031525	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs527559768	chr12:43031525-43031526	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs552232707	chr12:43031571-43031572	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	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
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43029400-43030600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:43030400-43030600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:43030600-43035000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links