Variant report

Variant	nsv976253
Chromosome Location	chr13:91686747-91690143
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:91682803..91684784-chr13:91688040..91691032,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539437019	chr13:91689014-91689015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368749023	chr13:91689048-91689049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577596972	chr13:91689059-91689060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577294682	chr13:91689066-91689067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9523239	chr13:91689169-91689170	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs556500229	chr13:91689193-91689194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531745928	chr13:91689223-91689224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567297471	chr13:91689251-91689252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576530303	chr13:91689255-91689256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541966813	chr13:91689263-91689264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139387762	chr13:91689333-91689334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9556058	chr13:91689336-91689337	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs566345530	chr13:91689359-91689360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200986875	chr13:91689373-91689374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549477108	chr13:91689374-91689375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545786640	chr13:91689375-91689376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142718911	chr13:91689398-91689399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181123676	chr13:91689405-91689406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531482158	chr13:91689441-91689442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550021598	chr13:91689494-91689495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147351443	chr13:91689534-91689535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529044980	chr13:91689537-91689538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547221578	chr13:91689556-91689557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112062304	chr13:91689576-91689577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565770829	chr13:91689589-91689590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532990871	chr13:91689599-91689600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185662976	chr13:91689606-91689607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569638769	chr13:91689632-91689633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139588088	chr13:91689659-91689660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145113515	chr13:91689697-91689698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12427484	chr13:91689764-91689765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568562909	chr13:91689768-91689769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12877378	chr13:91689804-91689805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536046914	chr13:91689915-91689916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538418715	chr13:91689917-91689918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553891561	chr13:91689928-91689929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572193883	chr13:91689931-91689932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12856649	chr13:91689973-91689974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558456745	chr13:91689978-91689979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545824182	chr13:91689991-91689992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557751538	chr13:91689993-91689994	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Small bowel adenocarcinoma	21586687	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
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
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:91689000-91690000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr13:91689200-91689600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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