Variant report

Variant	esv3434510
Chromosome Location	chr13:30360390-30360503
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189494409	chr13:30360390-30360391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375473724	chr13:30360402-30360403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11147399	chr13:30360405-30360406	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs527971603	chr13:30360416-30360417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192542263	chr13:30360433-30360434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567477511	chr13:30360455-30360456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560055716	chr13:30360472-30360473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536460861	chr13:30360485-30360486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30333200-30368200	Weak transcription	Aorta	Aorta
2	chr13:30333600-30376200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr13:30337600-30363000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:30339000-30364200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr13:30341200-30373200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr13:30341800-30360400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr13:30341800-30363600	Weak transcription	HSMM	muscle
8	chr13:30341800-30365000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr13:30347600-30361800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr13:30347800-30361400	Weak transcription	A549	lung
11	chr13:30349800-30364400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr13:30350200-30361800	Weak transcription	Fetal Lung	lung
13	chr13:30350400-30361800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr13:30353400-30361600	Weak transcription	Brain Hippocampus Middle	brain
15	chr13:30354200-30361800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr13:30355400-30362000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr13:30357200-30363000	Weak transcription	Ovary	ovary
18	chr13:30357600-30364600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr13:30359000-30360400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr13:30359000-30360400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr13:30359000-30365600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr13:30359000-30367200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr13:30359800-30360400	Enhancers	HMEC	breast
24	chr13:30359800-30360600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:30359800-30360800	Enhancers	Fetal Intestine Small	intestine
26	chr13:30359800-30361000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr13:30359800-30361400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr13:30359800-30361400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr13:30359800-30362000	Enhancers	Duodenum Mucosa	Duodenum
30	chr13:30359800-30362600	Enhancers	Liver	Liver
31	chr13:30360000-30360400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr13:30360000-30360400	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr13:30360000-30360400	Enhancers	Stomach Mucosa	stomach
34	chr13:30360000-30360600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr13:30360000-30360600	Enhancers	Fetal Intestine Large	intestine
36	chr13:30360000-30360800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr13:30360000-30360800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr13:30360000-30362400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr13:30360200-30360400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr13:30360200-30360600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr13:30360200-30360600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr13:30360200-30360600	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr13:30360200-30360600	Enhancers	Gastric	stomach
44	chr13:30360200-30360600	Enhancers	Left Ventricle	heart
45	chr13:30360200-30360600	Enhancers	Pancreas	Pancrea
46	chr13:30360200-30360600	Enhancers	Placenta Amnion	Placenta Amnion
47	chr13:30360200-30360600	Enhancers	Psoas Muscle	Psoas
48	chr13:30360200-30360600	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr13:30360200-30360600	Enhancers	Right Atrium	heart
50	chr13:30360200-30360600	Enhancers	Skeletal Muscle Male	skeletal muscle

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