Variant report

Variant	esv3429499
Chromosome Location	chr13:84698951-84700974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552476365	chr13:84698951-84698952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116461194	chr13:84698956-84698957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139294266	chr13:84698957-84698958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs8000968	chr13:84698967-84698968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564090164	chr13:84698996-84698997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142582327	chr13:84699060-84699061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574600925	chr13:84699106-84699107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191890995	chr13:84699111-84699112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556980670	chr13:84699135-84699136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374966148	chr13:84699136-84699137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150952141	chr13:84699151-84699152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546112454	chr13:84699161-84699162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553007138	chr13:84699244-84699245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12184517	chr13:84699271-84699272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184083257	chr13:84699278-84699279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532967154	chr13:84699326-84699327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4885908	chr13:84699371-84699372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs530664293	chr13:84699412-84699413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115316582	chr13:84699414-84699415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564140206	chr13:84699449-84699450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187065962	chr13:84699479-84699480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563259414	chr13:84699513-84699514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375065215	chr13:84699563-84699564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs60706770	chr13:84699564-84699565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72233632	chr13:84699565-84699566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371946101	chr13:84699566-84699567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530749671	chr13:84699580-84699581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59718007	chr13:84699583-84699584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397966038	chr13:84699584-84699585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552804158	chr13:84699614-84699615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576387124	chr13:84699727-84699728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201665112	chr13:84699752-84699753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs59157777	chr13:84699763-84699764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs66886222	chr13:84699766-84699767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57275157	chr13:84699767-84699768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35218582	chr13:84699770-84699771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9531554	chr13:84699771-84699772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9575522	chr13:84699775-84699776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61213450	chr13:84699779-84699780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552232197	chr13:84699780-84699781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58774395	chr13:84699783-84699784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188937942	chr13:84699785-84699786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72477643	chr13:84699800-84699801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150078878	chr13:84699820-84699821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192227099	chr13:84699827-84699828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554229375	chr13:84699829-84699830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539425865	chr13:84699852-84699853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544119379	chr13:84699853-84699854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568209083	chr13:84699855-84699856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185004652	chr13:84699873-84699874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Epilepsy	20502679	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:84693600-84700600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr13:84696000-84700800	Weak transcription	NHEK	skin
3	chr13:84696200-84700600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:84696200-84700800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:84700600-84701400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr13:84700600-84701400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr13:84700600-84701800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr13:84700600-84702000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr13:84700800-84701200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr13:84700800-84701400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr13:84700800-84701600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr13:84700800-84701600	Enhancers	Esophagus	oesophagus
13	chr13:84700800-84701600	Enhancers	NHEK	skin
14	chr13:84700800-84701800	Enhancers	Primary T cells fromperipheralblood	blood

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