Variant report

Variant	nsv517142
Chromosome Location	chr13:50535863-50545357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50541041..50543256-chr13:50570099..50571852,2	MCF-7	breast:
2	chr13:50541396..50543850-chr13:51484006..51485830,2	MCF-7	breast:
3	chr13:50531429..50533687-chr13:50538625..50541399,2	K562	blood:
4	chr13:50543750..50545594-chr13:50547899..50550003,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204977	chromatin interactions
ENSG00000264864	chromatin interactions
ENSG00000233672	chromatin interactions

Extended variants
information (count: 259 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2475837	chr13:50535863-50535864	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191140762	chr13:50535907-50535908	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs114739725	chr13:50535955-50535956	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs182989092	chr13:50536008-50536009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75454531	chr13:50536011-50536012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530898906	chr13:50536050-50536051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187168393	chr13:50536088-50536089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115345559	chr13:50536103-50536104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371161870	chr13:50536151-50536152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143277328	chr13:50536173-50536174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9634682	chr13:50536186-50536187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546542327	chr13:50536205-50536206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190333871	chr13:50536213-50536214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538119286	chr13:50536236-50536237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535600441	chr13:50536278-50536279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9562944	chr13:50536349-50536350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs200190389	chr13:50536360-50536361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557862307	chr13:50536392-50536393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182892194	chr13:50536405-50536406	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs540240233	chr13:50536555-50536556	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs141400917	chr13:50536575-50536576	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs574787176	chr13:50536596-50536597	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs34522923	chr13:50536686-50536687	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542156912	chr13:50536688-50536689	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369114580	chr13:50536692-50536693	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569677305	chr13:50536693-50536694	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77797386	chr13:50536708-50536709	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61960459	chr13:50536709-50536710	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563525435	chr13:50536730-50536731	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187635448	chr13:50536749-50536750	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35330191	chr13:50536857-50536858	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112926161	chr13:50536858-50536859	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397693309	chr13:50536868-50536869	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150825916	chr13:50536885-50536886	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370910880	chr13:50536916-50536917	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192563268	chr13:50536975-50536976	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9526628	chr13:50537013-50537014	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528433319	chr13:50537025-50537026	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138516655	chr13:50537048-50537049	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568515671	chr13:50537096-50537097	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369570039	chr13:50537125-50537126	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529196470	chr13:50537128-50537129	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550931535	chr13:50537223-50537224	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553899195	chr13:50537353-50537354	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185811472	chr13:50537360-50537361	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74360361	chr13:50537364-50537365	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573941996	chr13:50537370-50537371	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557535585	chr13:50537388-50537389	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566572407	chr13:50537456-50537457	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533696061	chr13:50537497-50537498	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
Breast cancer	17899364	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
Alveolar rhabdomyosarcoma	16790082	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
Congenital anomalies of the kidney and urinary tract	20467480	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
Sezary syndrome	18413736	CNVD
Breast cancer	21990379	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50511400-50537800	Weak transcription	Left Ventricle	heart
2	chr13:50522400-50550600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:50529400-50547000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr13:50529600-50537000	Weak transcription	Psoas Muscle	Psoas
5	chr13:50529600-50550000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr13:50529800-50536600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr13:50529800-50539400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:50529800-50543200	Weak transcription	Osteobl	bone
9	chr13:50529800-50544800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr13:50530000-50536400	Weak transcription	Placenta	Placenta
11	chr13:50530000-50546600	Weak transcription	Fetal Thymus	thymus
12	chr13:50530400-50537200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr13:50531400-50536000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr13:50531400-50550400	Weak transcription	NHDF-Ad	bronchial
15	chr13:50532400-50537600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:50532800-50537400	Weak transcription	Brain Substantia Nigra	brain
17	chr13:50533000-50552200	Weak transcription	Ovary	ovary
18	chr13:50533600-50539600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr13:50534000-50536600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr13:50534400-50550400	Weak transcription	HSMM	muscle
21	chr13:50534800-50536400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:50535200-50537600	Weak transcription	Liver	Liver
23	chr13:50535600-50547400	Weak transcription	Thymus	Thymus
24	chr13:50535800-50536000	ZNF genes & repeats	Primary B cells from cord blood	blood
25	chr13:50536400-50536600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:50536400-50537000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr13:50536400-50552800	Weak transcription	Fetal Heart	heart
28	chr13:50536600-50537000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr13:50536600-50538800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr13:50536600-50540600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr13:50537000-50538000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr13:50537000-50538000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
33	chr13:50537000-50538000	ZNF genes & repeats	Psoas Muscle	Psoas
34	chr13:50537200-50539000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
35	chr13:50537400-50538200	ZNF genes & repeats	Brain Substantia Nigra	brain
36	chr13:50537600-50538000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr13:50537600-50538000	ZNF genes & repeats	Liver	Liver
38	chr13:50537600-50538200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr13:50537600-50538200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
40	chr13:50537800-50538000	ZNF genes & repeats	Left Ventricle	heart
41	chr13:50538000-50538200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
42	chr13:50538000-50539400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr13:50538000-50539600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr13:50538200-50539600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr13:50538200-50540600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr13:50538200-50550400	Weak transcription	Brain Substantia Nigra	brain
47	chr13:50538200-50558000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr13:50538600-50539000	ZNF genes & repeats	Fetal Intestine Small	intestine
49	chr13:50538800-50550400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr13:50539000-50548800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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