Variant report

Variant	nsv976742
Chromosome Location	chr12:33833426-33860942
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:33851368..33853439-chr12:33854297..33856163,2	K562	blood:
2	chr12:33828843..33831342-chr12:33831748..33833892,2	MCF-7	breast:
3	chr12:33829191..33832015-chr12:33832800..33835417,2	K562	blood:
4	chr12:33831200..33833987-chr12:33837460..33839264,2	K562	blood:
5	chr12:33809313..33810966-chr12:33832220..33835115,2	K562	blood:
6	chr12:33828756..33830899-chr12:33837528..33839909,2	MCF-7	breast:
7	chr12:33851368..33853439-chr12:33854297..33856163,2	K562	blood:
8	chr12:33831200..33833987-chr12:33837460..33839264,2	K562	blood:
9	chr12:33830515..33832081-chr12:33832328..33834300,2	K562	blood:

No data

Extended variants
information (count: 158 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:158 , 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	rs150348883	chr12:33836802-33836803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182671936	chr12:33836808-33836809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558279788	chr12:33836814-33836815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187224313	chr12:33836824-33836825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535363719	chr12:33836843-33836844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11052841	chr12:33836862-33836863	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs140883396	chr12:33836878-33836879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371832286	chr12:33836879-33836880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192096905	chr12:33836880-33836881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149858974	chr12:33836886-33836887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs58421753	chr12:33836890-33836891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201082618	chr12:33836891-33836892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185560180	chr12:33836947-33836948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188724345	chr12:33836948-33836949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114602933	chr12:33836972-33836973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546698063	chr12:33836986-33836987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546130842	chr12:33837019-33837020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568505067	chr12:33837062-33837063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559509093	chr12:33837068-33837069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527549304	chr12:33837156-33837157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115359780	chr12:33837172-33837173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112603696	chr12:33837185-33837186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529836853	chr12:33837194-33837195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376726502	chr12:33837223-33837224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530542114	chr12:33837291-33837292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570504655	chr12:33850083-33850084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs200237535	chr12:33850095-33850096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs141221406	chr12:33850101-33850102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs554214072	chr12:33850103-33850104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs2087270	chr12:33850109-33850110	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs2087269	chr12:33850143-33850144	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs540833600	chr12:33850148-33850149	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs376033790	chr12:33850180-33850181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs368367549	chr12:33850184-33850185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs531714307	chr12:33850197-33850198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs192346626	chr12:33850211-33850212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs574572106	chr12:33850212-33850213	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs543526109	chr12:33850220-33850221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs11832821	chr12:33850261-33850262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs532139068	chr12:33850277-33850278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs115130912	chr12:33850285-33850286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs184724966	chr12:33850338-33850339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs189061062	chr12:33850342-33850343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs112710567	chr12:33850368-33850369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs568624983	chr12:33850387-33850388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs531051606	chr12:33850516-33850517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs555075366	chr12:33850530-33850531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs570615353	chr12:33850531-33850532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs180974809	chr12:33850567-33850568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs11052849	chr12:33850573-33850574	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	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	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Cancer	21272361	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33836800-33837400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:33850000-33850400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:33850000-33851000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:33850400-33850800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:33850600-33850800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:33850800-33852400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:33851000-33852600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:33852200-33852800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:33852200-33853000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:33852400-33852600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:33857800-33858200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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