Variant report

Variant	nsv559366
Chromosome Location	chr12:72956100-72968492
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:72964447-72964799	H1-hESC	embryonic stem cell:	n/a	chr12:72964771-72964782 chr12:72964707-72964720 chr12:72964709-72964720
2	CEBPB	chr12:72964395-72964834	MCF-7	breast:	n/a	chr12:72964771-72964782 chr12:72964707-72964720 chr12:72964709-72964720
3	CTCF	chr12:72964500-72964650	HRPEpiC	eye:	n/a	n/a
4	CTCF	chr12:72964500-72964650	HPF	lung:	n/a	n/a
5	CTCF	chr12:72964480-72964630	WERI-Rb-1	eye:	n/a	n/a
6	CTCF	chr12:72964500-72964650	AG09309	skin:	n/a	n/a
7	CTCF	chr12:72964500-72964650	Caco-2	colon:	n/a	n/a
8	CTCF	chr12:72964520-72964670	WI-38	lung:	n/a	n/a
9	CTCF	chr12:72964501-72964689	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr12:72964680-72964830	HFF-Myc	foreskin:	n/a	n/a
11	CTCF	chr12:72964440-72964590	HPAF	blood vessel:	n/a	n/a
12	CTCF	chr12:72964500-72964650	GM12872	blood:	n/a	n/a
13	CTCF	chr12:72964540-72964690	HCT-116	colon:	n/a	n/a
14	CTCF	chr12:72964460-72964610	GM06990	blood:	n/a	n/a
15	CTCF	chr12:72964520-72964670	GM12873	blood:	n/a	n/a
16	CTCF	chr12:72964540-72964690	WERI-Rb-1	eye:	n/a	n/a
17	CTCF	chr12:72964362-72964744	HepG2	liver:	n/a	n/a
18	CTCF	chr12:72964520-72964670	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr12:72964500-72964650	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr12:72964520-72964670	HBMEC	blood vessel:	n/a	n/a
21	CTCF	chr12:72964497-72964609	GM10248	blood:	n/a	n/a
22	CTCF	chr12:72964500-72964650	AG09319	gingival:	n/a	n/a
23	CTCF	chr12:72964500-72964650	K562	blood:	n/a	n/a
24	CTCF	chr12:72964480-72964630	GM12870	blood:	n/a	n/a
25	CTCF	chr12:72964460-72964610	AG04450	lung:	n/a	n/a
26	CTCF	chr12:72964508-72964621	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr12:72964500-72964650	HepG2	liver:	n/a	n/a
28	CTCF	chr12:72964480-72964630	Caco-2	colon:	n/a	n/a
29	CTCF	chr12:72964520-72964670	MCF-7	breast:	n/a	n/a
30	CTCF	chr12:72964486-72964711	GM19238	blood:	n/a	n/a
31	CTCF	chr12:72964446-72964706	GM13977	blood:	n/a	n/a
32	CTCF	chr12:72964500-72964650	HVMF	connective:	n/a	n/a
33	CTCF	chr12:72964520-72964670	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr12:72964500-72964650	A549	lung:	n/a	n/a
35	CTCF	chr12:72964540-72964690	HepG2	liver:	n/a	n/a
36	CTCF	chr12:72964380-72964530	A549	lung:	n/a	n/a
37	CTCF	chr12:72964480-72964630	GM12872	blood:	n/a	n/a
38	CTCF	chr12:72964500-72964650	GM12874	blood:	n/a	n/a
39	CTCF	chr12:72964540-72964690	HBMEC	blood vessel:	n/a	n/a
40	CTCF	chr12:72964520-72964670	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr12:72964520-72964670	GM12871	blood:	n/a	n/a
42	CTCF	chr12:72964460-72964610	RPTEC	kidney:	n/a	n/a
43	CTCF	chr12:72964504-72964663	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr12:72964460-72964610	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr12:72964520-72964670	GM12866	blood:	n/a	n/a
46	CTCF	chr12:72964493-72964635	GM20000	blood:	n/a	n/a
47	CTCF	chr12:72964460-72964610	NHDF-neo	bronchial:	n/a	n/a
48	CTCF	chr12:72964460-72964610	HRPEpiC	eye:	n/a	n/a
49	CTCF	chr12:72964554-72964637	Fibrobl	skin:	n/a	n/a
50	CTCF	chr12:72964487-72964685	GM19239	blood:	n/a	n/a

Variant related genes	Relation type
TRHDE	TF binding region

Extended variants
information (count: 475 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:475 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2272506	chr12:72956100-72956101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564595785	chr12:72956178-72956179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540588593	chr12:72956229-72956230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143036917	chr12:72956265-72956266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577340809	chr12:72956273-72956274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs5799081	chr12:72956282-72956283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544516060	chr12:72956371-72956372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187788304	chr12:72956396-72956397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529875585	chr12:72956414-72956415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541661713	chr12:72956481-72956482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1968965	chr12:72956570-72956571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs1687263	chr12:72956576-72956577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1687264	chr12:72956585-72956586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1795542	chr12:72956598-72956599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527410091	chr12:72956607-72956608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558377435	chr12:72956612-72956613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2272505	chr12:72956613-72956614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs373709551	chr12:72956616-72956617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370757880	chr12:72956701-72956702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200666123	chr12:72956779-72956780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79522035	chr12:72956782-72956783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150205223	chr12:72956805-72956806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373860280	chr12:72956831-72956832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368525873	chr12:72956839-72956840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192802700	chr12:72956840-72956841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200129654	chr12:72956854-72956855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567090419	chr12:72956859-72956860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201860781	chr12:72956861-72956862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372796884	chr12:72956865-72956866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559057260	chr12:72956886-72956887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74840120	chr12:72956964-72956965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538252668	chr12:72956977-72956978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184858429	chr12:72956987-72956988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556450830	chr12:72957061-72957062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7311155	chr12:72957065-72957066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs61926611	chr12:72957096-72957097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541974042	chr12:72957126-72957127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139947654	chr12:72957130-72957131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370083904	chr12:72957151-72957152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201299663	chr12:72957210-72957211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572231779	chr12:72957269-72957270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7296979	chr12:72957329-72957330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs593573	chr12:72957341-72957342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs615232	chr12:72957384-72957385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs615230	chr12:72957387-72957388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563876830	chr12:72957393-72957394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531166483	chr12:72957463-72957464	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs17111389	chr12:72957524-72957525	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs562810779	chr12:72957599-72957600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530314937	chr12:72957605-72957606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Autism	20685689	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72941600-72959800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:72947600-72973600	Weak transcription	Fetal Intestine Small	intestine
3	chr12:72956400-72959400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:72956400-72973800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:72957600-72958000	Weak transcription	Pancreas	Pancrea
6	chr12:72957800-72958000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
7	chr12:72958000-72958200	ZNF genes & repeats	Pancreas	Pancrea
8	chr12:72958200-72984400	Weak transcription	Pancreas	Pancrea
9	chr12:72964400-72986800	Weak transcription	Fetal Intestine Large	intestine
10	chr12:72964600-72965200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:72964800-72965400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr12:72965000-72965800	Enhancers	HUES48 Cell Line	embryonic stem cell

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