Variant report

Variant	nsv976147
Chromosome Location	chr13:96271072-96272141
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376551639	chr13:96271072-96271073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79774382	chr13:96271140-96271141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs80132167	chr13:96271167-96271168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183252575	chr13:96271209-96271210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573188989	chr13:96271239-96271240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545031785	chr13:96271283-96271284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141699600	chr13:96271315-96271316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs36118959	chr13:96271330-96271331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs397809663	chr13:96271332-96271333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576450260	chr13:96271337-96271338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146333585	chr13:96271351-96271352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111915256	chr13:96271474-96271475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544937353	chr13:96271484-96271485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561449207	chr13:96271512-96271513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530343862	chr13:96271513-96271514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34419417	chr13:96271530-96271531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546669796	chr13:96271534-96271535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560028893	chr13:96271536-96271537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188664254	chr13:96271558-96271559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192277150	chr13:96271565-96271566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148532232	chr13:96271672-96271673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544287321	chr13:96271704-96271705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs16951267	chr13:96271774-96271775	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs150610008	chr13:96271864-96271865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139679352	chr13:96271875-96271876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7334692	chr13:96271882-96271883	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs559158665	chr13:96271912-96271913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533290837	chr13:96271942-96271943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs58256706	chr13:96271952-96271953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528363100	chr13:96271955-96271956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200874371	chr13:96271989-96271990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533785412	chr13:96272021-96272022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183942914	chr13:96272044-96272045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs56308186	chr13:96272060-96272061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369655689	chr13:96272122-96272123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573208985	chr13:96272124-96272125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201059893	chr13:96272141-96272142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	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
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96232200-96272800	Weak transcription	Brain Substantia Nigra	brain
2	chr13:96235600-96284200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr13:96240000-96272800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:96240000-96273000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:96242200-96272600	Weak transcription	Brain Angular Gyrus	brain
6	chr13:96246400-96278600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr13:96247800-96293600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:96248000-96276600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:96249400-96272200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:96251400-96294400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:96255000-96273000	Weak transcription	Brain Hippocampus Middle	brain
12	chr13:96256400-96295200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr13:96256800-96273000	Weak transcription	Gastric	stomach
14	chr13:96256800-96273000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr13:96256800-96294200	Weak transcription	Placenta	Placenta
16	chr13:96258800-96273000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:96260000-96277000	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr13:96260200-96279000	Weak transcription	Liver	Liver
19	chr13:96260200-96293400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr13:96260400-96272600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr13:96260600-96279200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr13:96260800-96273000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr13:96260800-96277000	Strong transcription	Fetal Muscle Trunk	muscle
24	chr13:96261000-96277000	Strong transcription	Fetal Stomach	stomach
25	chr13:96261000-96277200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:96261200-96288400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr13:96261400-96273000	Weak transcription	Left Ventricle	heart
28	chr13:96261600-96272200	Weak transcription	Colon Smooth Muscle	Colon
29	chr13:96262000-96280800	Weak transcription	Fetal Heart	heart
30	chr13:96262200-96277000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr13:96262600-96275600	Strong transcription	Fetal Brain Female	brain
32	chr13:96262800-96278000	Strong transcription	HSMM	muscle
33	chr13:96263200-96277000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr13:96263600-96290000	Weak transcription	Adipose Nuclei	Adipose
35	chr13:96264800-96274200	Weak transcription	Fetal Brain Male	brain
36	chr13:96264800-96276200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr13:96265000-96272200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr13:96265000-96273000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr13:96265800-96293400	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr13:96266400-96277200	Strong transcription	HUVEC	blood vessel
41	chr13:96266400-96286000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr13:96267000-96274200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr13:96267400-96277400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr13:96267600-96293000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr13:96267800-96272200	Strong transcription	Fetal Lung	lung
46	chr13:96267800-96273000	Weak transcription	Stomach Mucosa	stomach
47	chr13:96267800-96275800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr13:96267800-96278000	Strong transcription	NH-A	brain
49	chr13:96268000-96276200	Strong transcription	HepG2	liver
50	chr13:96268000-96279400	Strong transcription	Muscle Satellite Cultured Cells	--

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