Variant report

Variant	nsv900393
Chromosome Location	chr13:67080274-67180045
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:67109100..67110769-chr13:67114510..67116820,2	K562	blood:
2	chr13:67157975..67159957-chr13:67162075..67164465,2	K562	blood:
3	chr13:67090368..67092830-chr13:67094169..67095769,2	K562	blood:
4	chr13:67130453..67132993-chr13:67135238..67136917,2	K562	blood:
5	chr13:67109100..67110769-chr13:67114510..67116820,2	K562	blood:
6	chr13:67124095..67126180-chr13:67127910..67129667,2	K562	blood:
7	chr13:67130453..67132993-chr13:67135238..67136917,2	K562	blood:
8	chr13:67118715..67120725-chr13:67121848..67124669,2	K562	blood:
9	chr13:67157975..67159957-chr13:67162075..67164465,2	K562	blood:
10	chr13:67124095..67126180-chr13:67127910..67129667,2	K562	blood:
11	chr13:67118715..67120725-chr13:67121848..67124669,2	K562	blood:
12	chr13:67090368..67092830-chr13:67094169..67095769,2	K562	blood:
13	chr13:67130437..67132993-chr13:67135417..67138774,3	K562	blood:
14	chr13:67130437..67132993-chr13:67135417..67138774,3	K562	blood:

No data

Extended variants
information (count: 2487 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:2487 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9540775	chr13:67080274-67080275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536300971	chr13:67080284-67080285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529956198	chr13:67080297-67080298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs118036507	chr13:67080312-67080313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142216577	chr13:67080371-67080372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117011272	chr13:67080397-67080398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544161732	chr13:67080422-67080423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548009185	chr13:67080452-67080453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112850659	chr13:67080464-67080465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143108615	chr13:67080477-67080478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs151234657	chr13:67080491-67080492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140926338	chr13:67080521-67080522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538141525	chr13:67080525-67080526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555283271	chr13:67080526-67080527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571853255	chr13:67080547-67080548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574486615	chr13:67080548-67080549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540232766	chr13:67080624-67080625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34533687	chr13:67080704-67080705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556961552	chr13:67080727-67080728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187422112	chr13:67080808-67080809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546308215	chr13:67080817-67080818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111434500	chr13:67080835-67080836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34593026	chr13:67080888-67080889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191811523	chr13:67080905-67080906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149775446	chr13:67080913-67080914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550600383	chr13:67080918-67080919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201274800	chr13:67080940-67080941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561170812	chr13:67080980-67080981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529674542	chr13:67081002-67081003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117720290	chr13:67081006-67081007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566544498	chr13:67081009-67081010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183161095	chr13:67081011-67081012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147895287	chr13:67081035-67081036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186173645	chr13:67081057-67081058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376776494	chr13:67081088-67081089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554914765	chr13:67081132-67081133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141646385	chr13:67081139-67081140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147077742	chr13:67081212-67081213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553730689	chr13:67081246-67081247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75252106	chr13:67081255-67081256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs398077341	chr13:67081257-67081258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112087761	chr13:67081260-67081261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117117981	chr13:67081308-67081309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548064676	chr13:67081322-67081323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368859276	chr13:67081330-67081331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117513194	chr13:67081334-67081335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs199798855	chr13:67081352-67081353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200444873	chr13:67081353-67081354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558406117	chr13:67081365-67081366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544405449	chr13:67081386-67081387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Schizophrenia	23813976	CNVD
Prostate cancer	22341455	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67076000-67081000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:67076000-67087600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr13:67078400-67081000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr13:67079000-67081000	Weak transcription	Hela-S3	cervix
5	chr13:67079000-67083400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr13:67081000-67081600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr13:67081000-67082000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:67081000-67082000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr13:67081000-67083600	Enhancers	Hela-S3	cervix
10	chr13:67081400-67081600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr13:67081400-67082800	Enhancers	Osteobl	bone
12	chr13:67081600-67087400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr13:67082000-67082400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:67082000-67082400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr13:67082400-67083200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:67082400-67083200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr13:67082800-67087600	Weak transcription	Osteobl	bone
18	chr13:67083200-67087600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr13:67083200-67088000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:67083400-67083800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr13:67083400-67083800	Enhancers	Primary B cells from cord blood	blood
22	chr13:67083400-67087600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr13:67087000-67087200	Bivalent Enhancer	Aorta	Aorta
24	chr13:67087400-67089000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr13:67087600-67088200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:67087600-67088200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr13:67087600-67088200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr13:67087600-67088400	Enhancers	Osteobl	bone
29	chr13:67087600-67088600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr13:67087600-67089000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr13:67087600-67089200	Enhancers	Brain Cingulate Gyrus	brain
32	chr13:67087800-67088200	Enhancers	HSMMtube	muscle
33	chr13:67087800-67089200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr13:67088000-67088400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr13:67088000-67088400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr13:67088000-67089000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:67088000-67089000	Enhancers	Brain Angular Gyrus	brain
38	chr13:67088000-67089200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr13:67088200-67088600	Enhancers	Brain Substantia Nigra	brain
40	chr13:67088200-67089200	Enhancers	Brain Hippocampus Middle	brain
41	chr13:67088600-67094600	Weak transcription	Brain Substantia Nigra	brain
42	chr13:67089000-67090000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr13:67089000-67094600	Weak transcription	Brain Angular Gyrus	brain
44	chr13:67089000-67096600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr13:67089200-67091000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:67089200-67095000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr13:67089200-67095000	Weak transcription	Brain Hippocampus Middle	brain
48	chr13:67090000-67090200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr13:67091000-67092000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr13:67092000-67093000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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