Variant report

Variant	nsv974231
Chromosome Location	chr13:97026761-97030487
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117863023	chr13:97027206-97027207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565294360	chr13:97027238-97027239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531150036	chr13:97027362-97027363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551267294	chr13:97027378-97027379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs61465884	chr13:97027391-97027392	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs368543816	chr13:97027462-97027463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145043493	chr13:97027481-97027482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528721357	chr13:97027513-97027514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375880486	chr13:97027514-97027515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185848679	chr13:97027531-97027532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375096482	chr13:97027532-97027533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147066961	chr13:97027546-97027547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372348677	chr13:97027549-97027550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375423116	chr13:97027551-97027552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1888976	chr13:97027560-97027561	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs1888977	chr13:97027573-97027574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs559022473	chr13:97027589-97027590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375893951	chr13:97027605-97027606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9556579	chr13:97027628-97027629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575312611	chr13:97027637-97027638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114214746	chr13:97027655-97027656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372481420	chr13:97027676-97027677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377071676	chr13:97027718-97027719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554374118	chr13:97027734-97027735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574378408	chr13:97027805-97027806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56974304	chr13:97027837-97027838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540180071	chr13:97027881-97027882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188782655	chr13:97027915-97027916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559846371	chr13:97027930-97027931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138837423	chr13:97027936-97027937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181563024	chr13:97027963-97027964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562624695	chr13:97028031-97028032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529916999	chr13:97028038-97028039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77852408	chr13:97028055-97028056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141945863	chr13:97028068-97028069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564219040	chr13:97028166-97028167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185360340	chr13:97028198-97028199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547321380	chr13:97028216-97028217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566714401	chr13:97028219-97028220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145616188	chr13:97028230-97028231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552365252	chr13:97028241-97028242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569314876	chr13:97028271-97028272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190169416	chr13:97028276-97028277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181314229	chr13:97028279-97028280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574293512	chr13:97028310-97028311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533793793	chr13:97028319-97028320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148167099	chr13:97028352-97028353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28626015	chr13:97028389-97028390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576734869	chr13:97028390-97028391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141984602	chr13:97028396-97028397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Wilms tumour	21544195	CNVD
Developmental delay	21147756	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
Burkitt''s lymphoma	20823134	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21785460	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97027200-97027400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:97027400-97033800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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