Variant report

Variant	nsv983693
Chromosome Location	chr13:93793008-93800150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548064832	chr13:93796449-93796450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571184439	chr13:93796461-93796462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560137781	chr13:93796543-93796544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34155298	chr13:93796556-93796557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs453067	chr13:93796560-93796561	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs549944090	chr13:93796583-93796584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570116563	chr13:93796605-93796606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535624919	chr13:93796614-93796615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144538508	chr13:93796615-93796616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2197358	chr13:93796620-93796621	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs139637570	chr13:93796634-93796635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553613802	chr13:93796673-93796674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113698654	chr13:93796679-93796680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9523937	chr13:93796688-93796689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539396277	chr13:93796699-93796700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112861701	chr13:93796717-93796718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529595535	chr13:93796801-93796802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531829485	chr13:93796802-93796803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555933082	chr13:93796822-93796823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369997579	chr13:93796830-93796831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373213455	chr13:93796840-93796841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1992610	chr13:93796904-93796905	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs541907184	chr13:93796906-93796907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561770235	chr13:93796917-93796918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369345294	chr13:93796925-93796926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541660961	chr13:93796991-93796992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564787831	chr13:93797015-93797016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145254484	chr13:93797025-93797026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147683359	chr13:93797027-93797028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142438783	chr13:93797054-93797055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117965090	chr13:93797132-93797133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372863175	chr13:93797176-93797177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565851089	chr13:93797206-93797207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533721384	chr13:93797211-93797212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547216610	chr13:93797270-93797271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529717637	chr13:93797278-93797279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74982519	chr13:93797297-93797298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546310699	chr13:93797336-93797337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs701604	chr13:93797347-93797348	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs559868920	chr13:93797368-93797369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77778716	chr13:93797389-93797390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566409451	chr13:93797410-93797411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538859513	chr13:93797494-93797495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552061072	chr13:93797496-93797497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189797677	chr13:93797503-93797504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564573375	chr13:93797507-93797508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs578191934	chr13:93797558-93797559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532452323	chr13:93797565-93797566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569178175	chr13:93797567-93797568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529213606	chr13:93797617-93797618	Enhancers Bivalent/Poised TSS	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
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
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
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93796400-93796800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr13:93796400-93800000	Enhancers	Fetal Intestine Small	intestine
3	chr13:93796400-93800200	Enhancers	Fetal Intestine Large	intestine
4	chr13:93796800-93797200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr13:93797200-93797800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr13:93797200-93798200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr13:93797200-93799000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr13:93797400-93797800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:93797400-93798000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr13:93797400-93798200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr13:93797400-93798400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr13:93797400-93799000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr13:93797600-93797800	Bivalent/Poised TSS	Left Ventricle	heart
14	chr13:93797600-93798000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr13:93797600-93798200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr13:93797600-93800400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:93797800-93798200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr13:93797800-93798200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:93798200-93798800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr13:93798200-93799000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr13:93798600-93798800	Enhancers	NH-A	brain
22	chr13:93798600-93799000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr13:93798600-93799000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr13:93798600-93800000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr13:93798600-93800400	Enhancers	Osteobl	bone
26	chr13:93798800-93799000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr13:93798800-93799400	Flanking Active TSS	NH-A	brain
28	chr13:93798800-93800000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr13:93798800-93800000	Enhancers	Ovary	ovary
30	chr13:93798800-93800200	Enhancers	HSMM	muscle
31	chr13:93799000-93799200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr13:93799000-93799200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr13:93799000-93799600	Enhancers	HSMMtube	muscle
34	chr13:93799000-93800000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr13:93799000-93802400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr13:93799200-93799400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr13:93799200-93800000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr13:93799200-93800400	Enhancers	HMEC	breast
39	chr13:93799400-93799600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr13:93799400-93800000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr13:93799400-93800000	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr13:93799400-93800400	Enhancers	NH-A	brain
43	chr13:93799600-93800000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr13:93800000-93802400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr13:93800000-93802800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr13:93800000-93802800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr13:93800000-93803000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr13:93800000-93803000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr13:93800000-93803200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr13:93800000-93803400	Weak transcription	Monocytes-CD14+_RO01746	blood

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