Variant report

Variant	nsv512271
Chromosome Location	chr12:43043924-43046566
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr12:43044634-43044727	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD2	chr12:43046125-43046172	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr12:43046000-43046150	HMEC	breast:	n/a	n/a
4	CTCF	chr12:43046046-43046153	GM19239	blood:	n/a	n/a
5	CTCF	chr12:43045815-43046338	MCF-7	breast:	n/a	n/a
6	CTCF	chr12:43046067-43046103	A549	lung:	n/a	n/a
7	CTCF	chr12:43045940-43046090	Caco-2	colon:	n/a	n/a
8	CTCF	chr12:43046087-43046139	GM12878	blood:	n/a	n/a
9	CTCF	chr12:43046018-43046178	MCF-7	breast:	n/a	n/a
10	CTCF	chr12:43046025-43046157	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr12:43046047-43046128	HepG2	liver:	n/a	n/a
12	CTCF	chr12:43046028-43046249	GM12878	blood:	n/a	n/a
13	CTCF	chr12:43046046-43046168	MCF-7	breast:	n/a	n/a
14	CTCF	chr12:43046064-43046163	K562	blood:	n/a	n/a
15	CTCF	chr12:43046059-43046129	GM12892	blood:	n/a	n/a
16	CTCF	chr12:43046020-43046170	A549	lung:	n/a	n/a
17	CTCF	chr12:43046073-43046135	K562	blood:	n/a	n/a
18	CTCF	chr12:43046019-43046184	NHEK	skin:	n/a	n/a
19	CTCF	chr12:43046060-43046210	HMEC	breast:	n/a	n/a
20	CTCF	chr12:43046092-43046132	MCF-7	breast:	n/a	n/a
21	CTCF	chr12:43046020-43046170	RPTEC	kidney:	n/a	n/a
22	CTCF	chr12:43046005-43046199	MCF-7	breast:	n/a	n/a
23	FOS	chr12:43045991-43046125	MCF10A-Er-Src	breast:	n/a	n/a
24	GATA3	chr12:43045853-43046377	MCF-7	breast:	n/a	n/a
25	MAZ	chr12:43046084-43046279	HepG2	liver:	n/a	n/a
26	NR2F2	chr12:43045758-43046334	MCF-7	breast:	n/a	n/a
27	RAD21	chr12:43045816-43046336	MCF-7	breast:	n/a	n/a
28	RAD21	chr12:43045955-43046156	HepG2	liver:	n/a	n/a
29	RAD21	chr12:43045887-43046339	ECC-1	luminal epithelium:	n/a	n/a
30	RAD21	chr12:43045952-43046228	Hela-S3	cervix:	n/a	n/a
31	RAD21	chr12:43045779-43046346	ECC-1	luminal epithelium:	n/a	n/a
32	RAD21	chr12:43045904-43046244	HCT-116	colon:	n/a	n/a
33	RAD21	chr12:43045780-43046340	HCT-116	colon:	n/a	n/a
34	RAD21	chr12:43045961-43046156	H1-hESC	embryonic stem cell:	n/a	n/a
35	RAD21	chr12:43045854-43046340	MCF-7	breast:	n/a	n/a
36	SMC3	chr12:43045912-43046152	Hela-S3	cervix:	n/a	n/a
37	STAT3	chr12:43045971-43046058	MCF10A-Er-Src	breast:	n/a	n/a
38	WRNIP1	chr12:43046446-43046585	GM12878	blood:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPHLN1-2	chr12:43046262-43046385	ENSG00000257164
2	lnc-PPHLN1-2	chr12:43046262-43046385	ENSG00000257164

No data

Variant related genes	Relation type
ENSG00000257510	TF binding region

Extended variants
information (count: 87 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189447027	chr12:43043998-43043999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11181610	chr12:43044000-43044001	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530036117	chr12:43044005-43044006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556525192	chr12:43044042-43044043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561377640	chr12:43044101-43044102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11181611	chr12:43044106-43044107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373118095	chr12:43044107-43044108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377727817	chr12:43044127-43044128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571463553	chr12:43044128-43044129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538870571	chr12:43044147-43044148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578246421	chr12:43044218-43044219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539746463	chr12:43044257-43044258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12823025	chr12:43044300-43044301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146564688	chr12:43044329-43044330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536982572	chr12:43044395-43044396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75802888	chr12:43044396-43044397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566484176	chr12:43044397-43044398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138182362	chr12:43044466-43044467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561229180	chr12:43044470-43044471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528425069	chr12:43044493-43044494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533825169	chr12:43044518-43044519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140130121	chr12:43044625-43044626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577077231	chr12:43044655-43044656	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs182302830	chr12:43044694-43044695	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs7302384	chr12:43044734-43044735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542270102	chr12:43044736-43044737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574639300	chr12:43044746-43044747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561032765	chr12:43044749-43044750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542144072	chr12:43044805-43044806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576105811	chr12:43044809-43044810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187298736	chr12:43044819-43044820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12828830	chr12:43044858-43044859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190098093	chr12:43044873-43044874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142430159	chr12:43044900-43044901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565055288	chr12:43044923-43044924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551434467	chr12:43044924-43044925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112319918	chr12:43044986-43044987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs151298342	chr12:43044990-43044991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10880337	chr12:43045013-43045014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
40	rs569481528	chr12:43045023-43045024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530318983	chr12:43045027-43045028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548866967	chr12:43045097-43045098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140640952	chr12:43045163-43045164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150477769	chr12:43045168-43045169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558618253	chr12:43045251-43045252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117389143	chr12:43045268-43045269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75588037	chr12:43045280-43045281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556072408	chr12:43045371-43045372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574581748	chr12:43045374-43045375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147777376	chr12:43045415-43045416	Enhancers Weak transcription	n/a	n/a	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: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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