Variant report

Variant	nsv557739
Chromosome Location	chr12:21526472-21543215
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:21528193..21534017-chr12:21534075..21538760,6	K562	blood:
2	chr12:21526910..21529766-chr12:21530369..21533433,3	K562	blood:
3	chr12:21526840..21530031-chr12:21536800..21540438,4	K562	blood:
4	chr12:21528193..21534017-chr12:21534075..21538760,6	K562	blood:
5	chr12:21526910..21529766-chr12:21530369..21533433,3	K562	blood:
6	chr12:21527361..21529300-chr12:21544200..21546826,2	K562	blood:
7	chr12:21526840..21530031-chr12:21536800..21540438,4	K562	blood:

Extended variants
information (count: 524 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12306121	chr12:21526472-21526473	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576447605	chr12:21526585-21526586	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs182577227	chr12:21526603-21526604	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs12319824	chr12:21526651-21526652	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs567801214	chr12:21526668-21526669	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs34689309	chr12:21526669-21526670	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs572557497	chr12:21526673-21526674	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs187611567	chr12:21526684-21526685	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs12306305	chr12:21526738-21526739	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs80027755	chr12:21526844-21526845	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs79763303	chr12:21526847-21526848	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs75014615	chr12:21526848-21526849	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs578256727	chr12:21526874-21526875	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs12300126	chr12:21526883-21526884	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs563260181	chr12:21526894-21526895	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs36102844	chr12:21527030-21527031	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs73080823	chr12:21527044-21527045	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs542660714	chr12:21527079-21527080	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs140320038	chr12:21527114-21527115	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs192566379	chr12:21527123-21527124	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs185726844	chr12:21527127-21527128	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs568316946	chr12:21527155-21527156	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs62723160	chr12:21527186-21527187	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs147793988	chr12:21527238-21527239	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs550618985	chr12:21527274-21527275	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs554975799	chr12:21527298-21527299	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs570007733	chr12:21527303-21527304	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs63378661	chr12:21527350-21527351	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs112593185	chr12:21527364-21527365	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs555818698	chr12:21527373-21527374	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs189053613	chr12:21527384-21527385	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs535206983	chr12:21527420-21527421	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs558422879	chr12:21527432-21527433	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs139606014	chr12:21527464-21527465	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs542603157	chr12:21527494-21527495	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs557374592	chr12:21527508-21527509	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs573540715	chr12:21527529-21527530	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs34334450	chr12:21527573-21527574	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs386761064	chr12:21527574-21527575	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs142590712	chr12:21527603-21527604	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs192953480	chr12:21527607-21527608	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs184271853	chr12:21527636-21527637	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs528203062	chr12:21527650-21527651	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs544790240	chr12:21527659-21527660	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs117701959	chr12:21527677-21527678	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs73080826	chr12:21527679-21527680	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs17680758	chr12:21527681-21527682	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs567487747	chr12:21527697-21527698	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs181260154	chr12:21527711-21527712	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs149081923	chr12:21527753-21527754	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
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
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
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21520600-21529200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr12:21525400-21531400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:21526400-21527400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:21526800-21527400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:21527400-21532200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:21528800-21529400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:21529200-21529400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:21531400-21532200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:21532000-21532800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:21532200-21532600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:21532200-21532600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr12:21532600-21533400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:21533400-21533600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr12:21533400-21534400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr12:21535800-21537400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:21536200-21536600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:21536400-21536800	Enhancers	Fetal Intestine Large	intestine
18	chr12:21537200-21537400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:21537400-21538200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:21537400-21547200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:21538200-21538800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:21541800-21542200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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