Variant report

Variant	nsv976051
Chromosome Location	chr13:51707809-51721119
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51708388..51710526-chr13:52384073..52385619,2	K562	blood:
2	chr13:51706949..51709669-chr20:49345951..49347773,2	MCF-7	breast:

Extended variants
information (count: 539 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:539 , 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	rs554876361	chr13:51707810-51707811	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574589477	chr13:51707839-51707840	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539535632	chr13:51707843-51707844	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143432763	chr13:51707872-51707873	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117860839	chr13:51707873-51707874	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542401221	chr13:51707908-51707909	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184770541	chr13:51707958-51707959	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370846219	chr13:51707979-51707980	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576003779	chr13:51707992-51707993	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544926478	chr13:51708003-51708004	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190071786	chr13:51708012-51708013	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532163274	chr13:51708052-51708053	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551911436	chr13:51708055-51708056	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558991869	chr13:51708078-51708079	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147973081	chr13:51708080-51708081	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534562467	chr13:51708103-51708104	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141636274	chr13:51708114-51708115	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9596464	chr13:51708115-51708116	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181875110	chr13:51708131-51708132	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570676908	chr13:51708134-51708135	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187370821	chr13:51708205-51708206	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189572265	chr13:51708224-51708225	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79314444	chr13:51708277-51708278	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566923737	chr13:51708294-51708295	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146069481	chr13:51708311-51708312	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75896619	chr13:51708392-51708393	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9563027	chr13:51708406-51708407	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs544553881	chr13:51708445-51708446	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548489650	chr13:51708451-51708452	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142801672	chr13:51708474-51708475	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562232625	chr13:51708476-51708477	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544527703	chr13:51708576-51708577	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374670326	chr13:51708590-51708591	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563653079	chr13:51708598-51708599	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528171008	chr13:51708637-51708638	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372015919	chr13:51708649-51708650	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572301892	chr13:51708721-51708722	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541566573	chr13:51708751-51708752	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376584311	chr13:51708885-51708886	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs180802491	chr13:51708968-51708969	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs9563028	chr13:51709017-51709018	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs75751293	chr13:51709054-51709055	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs540290901	chr13:51709070-51709071	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs570685636	chr13:51709110-51709111	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs533078750	chr13:51709111-51709112	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs111712561	chr13:51709120-51709121	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs566910192	chr13:51709182-51709183	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs147414701	chr13:51709210-51709211	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555922540	chr13:51709211-51709212	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569277303	chr13:51709216-51709217	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21990379	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51700400-51721200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:51700800-51711200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:51702400-51708400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr13:51703800-51709000	Weak transcription	Spleen	Spleen
5	chr13:51705400-51709400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr13:51706600-51711000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:51707000-51708000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr13:51707600-51708000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr13:51707800-51717400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr13:51708000-51709400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr13:51708000-51714400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr13:51708200-51715800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr13:51708200-51720400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr13:51708400-51709000	Enhancers	HUVEC	blood vessel
15	chr13:51708400-51709600	Enhancers	Liver	Liver
16	chr13:51708800-51709200	Bivalent Enhancer	HepG2	liver
17	chr13:51708800-51709400	Enhancers	Thymus	Thymus
18	chr13:51708800-51709600	Enhancers	Fetal Thymus	thymus
19	chr13:51709000-51709400	Enhancers	Spleen	Spleen
20	chr13:51709200-51709400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr13:51709200-51709400	Enhancers	Fetal Muscle Leg	muscle
22	chr13:51709400-51710000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr13:51709400-51710200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr13:51709400-51710200	Enhancers	Fetal Muscle Trunk	muscle
25	chr13:51709400-51711400	Weak transcription	Spleen	Spleen
26	chr13:51710000-51710200	Enhancers	Fetal Muscle Leg	muscle
27	chr13:51710200-51711600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr13:51711000-51711200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr13:51711200-51712000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr13:51711400-51712400	Enhancers	Spleen	Spleen
31	chr13:51711600-51720400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr13:51712000-51712400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr13:51712400-51714400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:51713600-51714600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr13:51714400-51715000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr13:51714400-51715000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr13:51717000-51720000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr13:51717400-51719600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
39	chr13:51718000-51719200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr13:51718600-51720000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
41	chr13:51719200-51720600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr13:51719600-51720000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr13:51719800-51725200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr13:51720000-51720200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
45	chr13:51720000-51720600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr13:51720000-51722200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr13:51720200-51720400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr13:51720400-51720600	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr13:51720400-51722200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr13:51720400-51722200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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