Variant report

Variant	nsv521987
Chromosome Location	chr13:30805815-30805992
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2277450	chr13:30805815-30805816	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541868096	chr13:30805853-30805854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2277449	chr13:30805930-30805931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187577627	chr13:30805938-30805939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190712018	chr13:30805979-30805980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3825532	chr13:30805992-30805993	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Squamous cell cancer	20885788	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Malignant glioma	17146433	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
Acute lymphoblastic leukemia	21339820	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Retinoblastoma	22278416	CNVD
Peters Plus syndrome	16909395	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Ovarian cancer	19047089	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21147910	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30765600-30807000	Weak transcription	Gastric	stomach
2	chr13:30774400-30812600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr13:30790000-30807000	Weak transcription	Small Intestine	intestine
4	chr13:30791000-30807200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr13:30791000-30808800	Weak transcription	Brain Hippocampus Middle	brain
6	chr13:30791000-30811600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr13:30791000-30831400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr13:30796600-30807000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr13:30796600-30808600	Weak transcription	Brain Substantia Nigra	brain
10	chr13:30796800-30831400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:30797000-30808600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr13:30797000-30823400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr13:30797800-30814800	Weak transcription	Placenta	Placenta
14	chr13:30798800-30810800	Strong transcription	Fetal Thymus	thymus
15	chr13:30799200-30811800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr13:30799200-30831400	Weak transcription	Aorta	Aorta
17	chr13:30799400-30808600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr13:30799400-30809000	Weak transcription	HSMMtube	muscle
19	chr13:30799400-30812400	Weak transcription	Fetal Kidney	kidney
20	chr13:30799400-30814200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr13:30799400-30814400	Weak transcription	Brain Angular Gyrus	brain
22	chr13:30799400-30814400	Weak transcription	HepG2	liver
23	chr13:30799400-30823200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr13:30799400-30831600	Weak transcription	Right Ventricle	heart
25	chr13:30799600-30807600	Weak transcription	Psoas Muscle	Psoas
26	chr13:30799600-30810400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr13:30799600-30817400	Weak transcription	Brain Anterior Caudate	brain
28	chr13:30799600-30823400	Weak transcription	A549	lung
29	chr13:30799600-30823400	Weak transcription	NHEK	skin
30	chr13:30799600-30845200	Weak transcription	HMEC	breast
31	chr13:30799800-30810800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr13:30800200-30806000	Strong transcription	Primary B cells from cord blood	blood
33	chr13:30801000-30821200	Weak transcription	Fetal Brain Male	brain
34	chr13:30801200-30811600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr13:30801200-30812000	Weak transcription	Pancreas	Pancrea
36	chr13:30801200-30815400	Weak transcription	Osteobl	bone
37	chr13:30801600-30806200	Strong transcription	Dnd41	blood
38	chr13:30801600-30808400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr13:30801800-30815800	Weak transcription	Colon Smooth Muscle	Colon
40	chr13:30803000-30831400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr13:30803200-30807600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr13:30803400-30827800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr13:30803600-30807400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr13:30803600-30810600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr13:30803600-30815000	Weak transcription	GM12878-XiMat	blood
46	chr13:30803600-30815400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr13:30803600-30830400	Weak transcription	Fetal Heart	heart
48	chr13:30803600-30831400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr13:30803800-30807000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr13:30803800-30808800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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