Variant report

Variant	nsv983733
Chromosome Location	chr13:94895947-94902719
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 224 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370792224	chr13:94895987-94895988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371167294	chr13:94896022-94896023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541055252	chr13:94896030-94896031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115767370	chr13:94896046-94896047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577676598	chr13:94896093-94896094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144249737	chr13:94896097-94896098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563957094	chr13:94896117-94896118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529506879	chr13:94896180-94896181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77311657	chr13:94896211-94896212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140920009	chr13:94896222-94896223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528586704	chr13:94896374-94896375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72645996	chr13:94896405-94896406	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs368627636	chr13:94896412-94896413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571317629	chr13:94896451-94896452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17791816	chr13:94896474-94896475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183788112	chr13:94896505-94896506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187638302	chr13:94896509-94896510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189775997	chr13:94896517-94896518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182079374	chr13:94896585-94896586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187036319	chr13:94896649-94896650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534721234	chr13:94896671-94896672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374533490	chr13:94896689-94896690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9561517	chr13:94896694-94896695	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs577713350	chr13:94896715-94896716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543400307	chr13:94896812-94896813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145856471	chr13:94896832-94896833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574255683	chr13:94896843-94896844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542926489	chr13:94896900-94896901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192702974	chr13:94896960-94896961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528622551	chr13:94897019-94897020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573068076	chr13:94897028-94897029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185457960	chr13:94897035-94897036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565036501	chr13:94897048-94897049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530850456	chr13:94897215-94897216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141897749	chr13:94897241-94897242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545259631	chr13:94897258-94897259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561032849	chr13:94897356-94897357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565157756	chr13:94897378-94897379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147088214	chr13:94897445-94897446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188281757	chr13:94897512-94897513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375422188	chr13:94897527-94897528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193050582	chr13:94897538-94897539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549262862	chr13:94897541-94897542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200861063	chr13:94897655-94897656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565889541	chr13:94897656-94897657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184963261	chr13:94897660-94897661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557928867	chr13:94897668-94897669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75169273	chr13:94897676-94897677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560173273	chr13:94897690-94897691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556940602	chr13:94897701-94897702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Medulloblastoma	19270706	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94892200-94901400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:94894800-94896200	Enhancers	NHDF-Ad	bronchial
3	chr13:94894800-94896600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr13:94894800-94896600	Enhancers	HSMMtube	muscle
5	chr13:94894800-94896800	Enhancers	HSMM	muscle
6	chr13:94895600-94896200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr13:94895800-94896200	Enhancers	Fetal Heart	heart
8	chr13:94895800-94896400	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr13:94896200-94901000	Weak transcription	NHDF-Ad	bronchial
10	chr13:94896800-94898600	Weak transcription	HSMM	muscle
11	chr13:94898600-94899200	ZNF genes & repeats	HSMM	muscle
12	chr13:94899200-94901000	Weak transcription	HSMM	muscle
13	chr13:94900000-94902200	Enhancers	HMEC	breast
14	chr13:94900200-94900400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:94900400-94901000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:94900400-94904000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr13:94900600-94900800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr13:94900800-94901800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr13:94901000-94901200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr13:94901000-94901600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr13:94901000-94902200	Enhancers	NHDF-Ad	bronchial
22	chr13:94901000-94902400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:94901000-94902400	Enhancers	HSMM	muscle
24	chr13:94901000-94902800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr13:94901200-94901400	Bivalent Enhancer	NH-A	brain
26	chr13:94901200-94902200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr13:94901200-94902400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr13:94901200-94902400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr13:94901200-94902400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr13:94901200-94902400	Enhancers	HSMMtube	muscle
31	chr13:94901200-94902400	Enhancers	Osteobl	bone
32	chr13:94901200-94902600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr13:94901400-94902200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:94901400-94902200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr13:94901400-94902400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr13:94901400-94902600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr13:94901400-94902600	Enhancers	NH-A	brain
38	chr13:94901600-94902200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr13:94901600-94902200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr13:94901600-94902400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr13:94901800-94902000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr13:94901800-94902200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr13:94901800-94902200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr13:94901800-94902200	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr13:94902200-94904000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr13:94902200-94904000	Weak transcription	NHDF-Ad	bronchial
47	chr13:94902200-94904200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr13:94902400-94904000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr13:94902400-94904000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr13:94902400-94904000	Weak transcription	HSMMtube	muscle

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