Variant report

Variant	nsv974265
Chromosome Location	chr13:88558371-88599404
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	chr10:95255999..95256872-chr13:88573166..88573666,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000138180	chromatin interactions

Extended variants
information (count: 205 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:205 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559611911	chr13:88572209-88572210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150474871	chr13:88572227-88572228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563863584	chr13:88572237-88572238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575663822	chr13:88572260-88572261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542684362	chr13:88572395-88572396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111428061	chr13:88572458-88572459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147748981	chr13:88572486-88572487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537926153	chr13:88572529-88572530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528457941	chr13:88572545-88572546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567575820	chr13:88572608-88572609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540975101	chr13:88572622-88572623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556185175	chr13:88572650-88572651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375176537	chr13:88572674-88572675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115365660	chr13:88572691-88572692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141078148	chr13:88572717-88572718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551304514	chr13:88572735-88572736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192098356	chr13:88572793-88572794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530551242	chr13:88572801-88572802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549086841	chr13:88572895-88572896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367880045	chr13:88572896-88572897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535416310	chr13:88572897-88572898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146931177	chr13:88572924-88572925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138004009	chr13:88572940-88572941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546864352	chr13:88572952-88572953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554035447	chr13:88573015-88573016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552954830	chr13:88573031-88573032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184284419	chr13:88573048-88573049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116830054	chr13:88573060-88573061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572217593	chr13:88573088-88573089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539283793	chr13:88573105-88573106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149493692	chr13:88573139-88573140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528612656	chr13:88573165-88573166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575771379	chr13:88573220-88573221	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs143121103	chr13:88573222-88573223	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs554640037	chr13:88573246-88573247	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs188578557	chr13:88573250-88573251	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs545995964	chr13:88573267-88573268	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs540242848	chr13:88573272-88573273	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs76790046	chr13:88573298-88573299	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs148239753	chr13:88573385-88573386	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs141267570	chr13:88573419-88573420	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs372462539	chr13:88573487-88573488	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs530718101	chr13:88573494-88573495	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs549144046	chr13:88573512-88573513	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs180933283	chr13:88573523-88573524	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs202033565	chr13:88573535-88573536	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs557655554	chr13:88573557-88573558	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs528150230	chr13:88573572-88573573	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs118009349	chr13:88573639-88573640	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs571193273	chr13:88573703-88573704	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
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
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
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
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Breast cancer	17142309	CNVD
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:88572200-88573000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr13:88572200-88573800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr13:88572400-88572600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr13:88572400-88573600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr13:88574400-88574800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr13:88587800-88588200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr13:88593200-88593400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:88593400-88593800	Enhancers	Fetal Lung	lung
9	chr13:88593400-88594400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:88593600-88595000	Enhancers	Fetal Kidney	kidney
11	chr13:88593800-88594200	Weak transcription	Fetal Lung	lung
12	chr13:88594000-88595000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:88594200-88595200	Enhancers	Fetal Lung	lung
14	chr13:88594400-88595000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr13:88595000-88596000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:88596200-88596400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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