Variant report

Variant	nsv511493
Chromosome Location	chr12:43045280-43046179
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr12:43046125-43046172	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr12:43046025-43046157	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr12:43046092-43046132	MCF-7	breast:	n/a	n/a
4	CTCF	chr12:43046046-43046168	MCF-7	breast:	n/a	n/a
5	CTCF	chr12:43046020-43046170	A549	lung:	n/a	n/a
6	CTCF	chr12:43046019-43046184	NHEK	skin:	n/a	n/a
7	CTCF	chr12:43045815-43046338	MCF-7	breast:	n/a	n/a
8	CTCF	chr12:43046005-43046199	MCF-7	breast:	n/a	n/a
9	CTCF	chr12:43046000-43046150	HMEC	breast:	n/a	n/a
10	CTCF	chr12:43046046-43046153	GM19239	blood:	n/a	n/a
11	CTCF	chr12:43046047-43046128	HepG2	liver:	n/a	n/a
12	CTCF	chr12:43046060-43046210	HMEC	breast:	n/a	n/a
13	CTCF	chr12:43046064-43046163	K562	blood:	n/a	n/a
14	CTCF	chr12:43046028-43046249	GM12878	blood:	n/a	n/a
15	CTCF	chr12:43046020-43046170	RPTEC	kidney:	n/a	n/a
16	CTCF	chr12:43046073-43046135	K562	blood:	n/a	n/a
17	CTCF	chr12:43046087-43046139	GM12878	blood:	n/a	n/a
18	CTCF	chr12:43045940-43046090	Caco-2	colon:	n/a	n/a
19	CTCF	chr12:43046059-43046129	GM12892	blood:	n/a	n/a
20	CTCF	chr12:43046018-43046178	MCF-7	breast:	n/a	n/a
21	CTCF	chr12:43046067-43046103	A549	lung:	n/a	n/a
22	FOS	chr12:43045991-43046125	MCF10A-Er-Src	breast:	n/a	n/a
23	GATA3	chr12:43045853-43046377	MCF-7	breast:	n/a	n/a
24	MAZ	chr12:43046084-43046279	HepG2	liver:	n/a	n/a
25	NR2F2	chr12:43045758-43046334	MCF-7	breast:	n/a	n/a
26	RAD21	chr12:43045779-43046346	ECC-1	luminal epithelium:	n/a	n/a
27	RAD21	chr12:43045816-43046336	MCF-7	breast:	n/a	n/a
28	RAD21	chr12:43045887-43046339	ECC-1	luminal epithelium:	n/a	n/a
29	RAD21	chr12:43045854-43046340	MCF-7	breast:	n/a	n/a
30	RAD21	chr12:43045955-43046156	HepG2	liver:	n/a	n/a
31	RAD21	chr12:43045952-43046228	Hela-S3	cervix:	n/a	n/a
32	RAD21	chr12:43045961-43046156	H1-hESC	embryonic stem cell:	n/a	n/a
33	RAD21	chr12:43045780-43046340	HCT-116	colon:	n/a	n/a
34	RAD21	chr12:43045904-43046244	HCT-116	colon:	n/a	n/a
35	SMC3	chr12:43045912-43046152	Hela-S3	cervix:	n/a	n/a
36	STAT3	chr12:43045971-43046058	MCF10A-Er-Src	breast:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000257510	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75588037	chr12:43045280-43045281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556072408	chr12:43045371-43045372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574581748	chr12:43045374-43045375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147777376	chr12:43045415-43045416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375992032	chr12:43045417-43045418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553675443	chr12:43045426-43045427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572869421	chr12:43045465-43045466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374912000	chr12:43045631-43045632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181509468	chr12:43045652-43045653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185756830	chr12:43045659-43045660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564968508	chr12:43045795-43045796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532468188	chr12:43045829-43045830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141088150	chr12:43045876-43045877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562893103	chr12:43045898-43045899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76754654	chr12:43046011-43046012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146960103	chr12:43046012-43046013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370119361	chr12:43046082-43046083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567152970	chr12:43046129-43046130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528018230	chr12:43046138-43046139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552197370	chr12:43046147-43046148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11181612	chr12:43046179-43046180	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43035200-43045800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:43045000-43046600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr12:43045400-43046000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr12:43045400-43046000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:43045400-43046200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr12:43045600-43046200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr12:43045800-43046200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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