Variant report

Variant	nsv526854
Chromosome Location	chr13:91751619-91754958
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151415870..151416770-chr13:91751809..91752606,2	MCF-7	breast:
2	chr13:91751937..91754836-chr13:92403757..92406157,2	K562	blood:
3	chr13:91754292..91756394-chr13:91999323..92002105,2	K562	blood:
4	chr13:91751114..91752648-chr13:92010500..92012399,2	K562	blood:

Variant related genes	Relation type
ENSG00000215417	chromatin interactions

Extended variants
information (count: 127 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9589095	chr13:91751619-91751620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9583877	chr13:91751664-91751665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs534150346	chr13:91751684-91751685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186620000	chr13:91751711-91751712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113745223	chr13:91751712-91751713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151234975	chr13:91751728-91751729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75388371	chr13:91751746-91751747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75288903	chr13:91751747-91751748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188338890	chr13:91751749-91751750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117442772	chr13:91751763-91751764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559962348	chr13:91751792-91751793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559258524	chr13:91751839-91751840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527294392	chr13:91751863-91751864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545375765	chr13:91751865-91751866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565262162	chr13:91751989-91751990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116120478	chr13:91751990-91751991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192830340	chr13:91752030-91752031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569438992	chr13:91752043-91752044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116912033	chr13:91752047-91752048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111450367	chr13:91752058-91752059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566837579	chr13:91752065-91752066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569916873	chr13:91752103-91752104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370633558	chr13:91752104-91752105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570800225	chr13:91752150-91752151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370746163	chr13:91752167-91752168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556135727	chr13:91752231-91752232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574595505	chr13:91752244-91752245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140380270	chr13:91752259-91752260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553863995	chr13:91752312-91752313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117942758	chr13:91752317-91752318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545436182	chr13:91752319-91752320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs8181795	chr13:91752401-91752402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563750736	chr13:91752430-91752431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531164396	chr13:91752437-91752438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529369893	chr13:91752454-91752455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563007776	chr13:91752466-91752467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190106439	chr13:91752488-91752489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537182196	chr13:91752517-91752518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545627429	chr13:91752570-91752571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77653976	chr13:91752574-91752575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111986648	chr13:91752604-91752605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181919653	chr13:91752635-91752636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77783896	chr13:91752643-91752644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538213677	chr13:91752646-91752647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550062477	chr13:91752681-91752682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200875756	chr13:91752710-91752711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71200543	chr13:91752711-91752712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568246850	chr13:91752714-91752715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111683957	chr13:91752715-91752716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535664888	chr13:91752728-91752729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Schizophrenia	23813976	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:91740000-91757400	Weak transcription	Right Atrium	heart
2	chr13:91753200-91754000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:91753400-91754200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr13:91753600-91754000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr13:91754000-91756800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:91754200-91756800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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