Variant report

Variant	nsv61089
Chromosome Location	chr13:39618367-39618370
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:39613981..39615721-chr13:39616266..39619122,2	K562	blood:
2	chr13:39604794..39607526-chr13:39617975..39619504,2	K562	blood:
3	chr13:39610419..39613692-chr13:39616080..39618520,4	K562	blood:

Variant related genes	Relation type
ENSG00000188811	chromatin interactions
ENSG00000120685	chromatin interactions

Extended variants
information (count: 3 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572419983	chr13:39618367-39618368	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs200936290	chr13:39618369-39618370	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs397951843	chr13:39618370-39618371	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Prostate cancer	16573809	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
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	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
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	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
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39613000-39629000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:39613000-39636200	Weak transcription	Spleen	Spleen
3	chr13:39613200-39622200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:39613200-39626600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:39613200-39636400	Weak transcription	Gastric	stomach
6	chr13:39613200-39637200	Weak transcription	Pancreas	Pancrea
7	chr13:39613200-39647000	Weak transcription	Left Ventricle	heart
8	chr13:39613200-39647200	Weak transcription	Lung	lung
9	chr13:39613400-39620600	Weak transcription	Psoas Muscle	Psoas
10	chr13:39613400-39622400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr13:39613400-39625000	Weak transcription	HSMMtube	muscle
12	chr13:39613400-39646600	Weak transcription	Aorta	Aorta
13	chr13:39613600-39623400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr13:39613600-39625200	Weak transcription	NHLF	lung
15	chr13:39613600-39626600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr13:39613600-39626600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr13:39613600-39629000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr13:39613600-39629200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr13:39613600-39629800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr13:39613800-39619200	Weak transcription	NH-A	brain
21	chr13:39613800-39620400	Weak transcription	Stomach Mucosa	stomach
22	chr13:39613800-39621000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:39613800-39621400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr13:39613800-39622400	Weak transcription	HSMM	muscle
25	chr13:39613800-39623200	Weak transcription	HMEC	breast
26	chr13:39613800-39627000	Weak transcription	Brain Substantia Nigra	brain
27	chr13:39613800-39639200	Weak transcription	Fetal Stomach	stomach
28	chr13:39614000-39625400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr13:39614000-39627000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr13:39614000-39627000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr13:39614000-39628400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr13:39614000-39634400	Weak transcription	Fetal Kidney	kidney
33	chr13:39614400-39620200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr13:39614400-39644000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr13:39614600-39619800	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr13:39614600-39623800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr13:39615000-39618800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr13:39615000-39620000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:39615000-39621200	Weak transcription	Fetal Heart	heart
40	chr13:39615000-39621600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr13:39615000-39621800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr13:39615000-39621800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr13:39615000-39625000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr13:39615000-39625800	Weak transcription	Colon Smooth Muscle	Colon
45	chr13:39615000-39626600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr13:39615000-39627000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr13:39615000-39628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr13:39615000-39629800	Weak transcription	Brain Germinal Matrix	brain
49	chr13:39615000-39634400	Weak transcription	Fetal Brain Male	brain
50	chr13:39615000-39636200	Weak transcription	Fetal Intestine Small	intestine

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