Variant report

Variant	esv3489165
Chromosome Location	chr13:96039472-96041062
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76553994	chr13:96039484-96039485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11620587	chr13:96039491-96039492	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs112180633	chr13:96039517-96039518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561804173	chr13:96039536-96039537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140768251	chr13:96039542-96039543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541717678	chr13:96039569-96039570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532370542	chr13:96039584-96039585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180899662	chr13:96039588-96039589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183968394	chr13:96039626-96039627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368917574	chr13:96039634-96039635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533017418	chr13:96039694-96039695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116655220	chr13:96039745-96039746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140163447	chr13:96039771-96039772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529719411	chr13:96039773-96039774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs60901081	chr13:96039774-96039775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369260742	chr13:96039775-96039776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34930425	chr13:96039776-96039777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376533595	chr13:96039814-96039815	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs5805931	chr13:96039815-96039816	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs569721638	chr13:96039842-96039843	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs200839247	chr13:96039847-96039848	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs112555732	chr13:96039881-96039882	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs555302488	chr13:96039938-96039939	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs568565218	chr13:96039944-96039945	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs534331178	chr13:96039946-96039947	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs80298120	chr13:96039947-96039948	Bivalent Enhancer Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs2389239	chr13:96040000-96040001	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs10508013	chr13:96040032-96040033	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs556834000	chr13:96040063-96040064	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs77641280	chr13:96040072-96040073	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs150098301	chr13:96040106-96040107	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs138379865	chr13:96040158-96040159	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs10508012	chr13:96040180-96040181	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs149324640	chr13:96040204-96040205	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540736162	chr13:96040230-96040231	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147420409	chr13:96040304-96040305	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182263585	chr13:96040333-96040334	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186880579	chr13:96040394-96040395	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117387109	chr13:96040419-96040420	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529221080	chr13:96040458-96040459	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538239358	chr13:96040484-96040485	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549151810	chr13:96040489-96040490	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368996506	chr13:96040536-96040537	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534240825	chr13:96040559-96040560	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557285904	chr13:96040564-96040565	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372917951	chr13:96040604-96040605	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551716061	chr13:96040619-96040620	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111302330	chr13:96040626-96040627	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570826759	chr13:96040669-96040670	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539803519	chr13:96040673-96040674	Enhancers Bivalent Enhancer 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
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
Intellectual disability	22102821	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96033000-96040000	Weak transcription	Right Atrium	heart
2	chr13:96037400-96041600	Enhancers	Colon Smooth Muscle	Colon
3	chr13:96037600-96040600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:96037800-96041200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr13:96038000-96041600	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr13:96038600-96039800	Enhancers	GM12878-XiMat	blood
7	chr13:96038800-96040400	Enhancers	Adipose Nuclei	Adipose
8	chr13:96038800-96040600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:96038800-96041000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr13:96039000-96040200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr13:96039000-96040800	Enhancers	Fetal Stomach	stomach
12	chr13:96039200-96041200	Enhancers	Primary B cells from peripheral blood	blood
13	chr13:96039400-96041400	Enhancers	Rectal Smooth Muscle	rectum
14	chr13:96039600-96040000	Enhancers	Psoas Muscle	Psoas
15	chr13:96039600-96040200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr13:96039600-96041000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr13:96039800-96040000	Active TSS	GM12878-XiMat	blood
18	chr13:96039800-96040200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:96039800-96040400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:96039800-96040600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr13:96039800-96041600	Bivalent Enhancer	Primary B cells from cord blood	blood
22	chr13:96040000-96040200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr13:96040000-96040200	Enhancers	Right Atrium	heart
24	chr13:96040000-96040200	Flanking Active TSS	GM12878-XiMat	blood
25	chr13:96040000-96040400	Enhancers	Brain Anterior Caudate	brain
26	chr13:96040000-96040600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr13:96040000-96040600	Enhancers	Brain Germinal Matrix	brain
28	chr13:96040000-96041000	Enhancers	Fetal Lung	lung
29	chr13:96040200-96040600	Enhancers	Fetal Brain Female	brain
30	chr13:96040200-96041000	Enhancers	Stomach Smooth Muscle	stomach
31	chr13:96040200-96041200	Enhancers	GM12878-XiMat	blood
32	chr13:96040200-96043800	Weak transcription	Right Atrium	heart
33	chr13:96041000-96043200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr13:96041000-96043600	Weak transcription	Fetal Lung	lung

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