Variant report

Variant	nsv983537
Chromosome Location	chr13:95213371-95219464
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	chr13:95213304..95215332-chr13:95243591..95245923,2	K562	blood:
2	chr13:95201512..95205109-chr13:95210516..95214213,3	MCF-7	breast:

Extended variants
information (count: 246 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:246 , 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	rs563357788	chr13:95213380-95213381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147391084	chr13:95213394-95213395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531456013	chr13:95213418-95213419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376728925	chr13:95213419-95213420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565905995	chr13:95213453-95213454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77454110	chr13:95213485-95213486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139549127	chr13:95213507-95213508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570482442	chr13:95213520-95213521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561096259	chr13:95213560-95213561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539460695	chr13:95213711-95213712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556170655	chr13:95213757-95213758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191805737	chr13:95213819-95213820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529034287	chr13:95213841-95213842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569814189	chr13:95213999-95214000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535988288	chr13:95214002-95214003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76817543	chr13:95214004-95214005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144877589	chr13:95214023-95214024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529193144	chr13:95214037-95214038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534980944	chr13:95214070-95214071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558504499	chr13:95214152-95214153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578258685	chr13:95214221-95214222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184116035	chr13:95214229-95214230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58004789	chr13:95214238-95214239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534941209	chr13:95214243-95214244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563319277	chr13:95214296-95214297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374966565	chr13:95214326-95214327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573644513	chr13:95214372-95214373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542715664	chr13:95214376-95214377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551044796	chr13:95214379-95214380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187664953	chr13:95214415-95214416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571211681	chr13:95214500-95214501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536693141	chr13:95214506-95214507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369408624	chr13:95214507-95214508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112002287	chr13:95214527-95214528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551349758	chr13:95214534-95214535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557071250	chr13:95214552-95214553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192070263	chr13:95214586-95214587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149115939	chr13:95214641-95214642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549757474	chr13:95214669-95214670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569726370	chr13:95214683-95214684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548246644	chr13:95214684-95214685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549480646	chr13:95214707-95214708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527730728	chr13:95214733-95214734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142197112	chr13:95214736-95214737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535205672	chr13:95214764-95214765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549659688	chr13:95214822-95214823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78090095	chr13:95214838-95214839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34110638	chr13:95214931-95214932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368821079	chr13:95214941-95214942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12854742	chr13:95214948-95214949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	21811512	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95202600-95221400	Weak transcription	Gastric	stomach
2	chr13:95202800-95221400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr13:95202800-95222000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:95202800-95223600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:95203000-95221200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr13:95203000-95221400	Weak transcription	Fetal Intestine Small	intestine
7	chr13:95203000-95222400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr13:95203200-95220800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr13:95203200-95220800	Weak transcription	Fetal Intestine Large	intestine
10	chr13:95203200-95222200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr13:95203400-95222400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr13:95203400-95222600	Weak transcription	A549	lung
13	chr13:95204800-95214000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:95209200-95221600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr13:95209200-95222600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:95209400-95221000	Weak transcription	Fetal Stomach	stomach
17	chr13:95209400-95225000	Weak transcription	HepG2	liver
18	chr13:95209600-95220600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr13:95209600-95222000	Weak transcription	HMEC	breast
20	chr13:95209800-95223000	Weak transcription	HUVEC	blood vessel
21	chr13:95210000-95222000	Weak transcription	Esophagus	oesophagus
22	chr13:95210000-95222000	Weak transcription	Lung	lung
23	chr13:95210200-95221200	Weak transcription	Adipose Nuclei	Adipose
24	chr13:95210600-95222000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr13:95210600-95222200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr13:95210800-95225000	Weak transcription	K562	blood
27	chr13:95211200-95213600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr13:95211200-95221400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr13:95211200-95222000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr13:95211400-95222200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr13:95211400-95223000	Weak transcription	Small Intestine	intestine
32	chr13:95211600-95214400	Weak transcription	Fetal Thymus	thymus
33	chr13:95211600-95221200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr13:95211800-95214600	Weak transcription	Liver	Liver
35	chr13:95211800-95222400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr13:95211800-95224000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr13:95212000-95221000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr13:95212000-95221400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr13:95212200-95221200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr13:95212200-95221600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr13:95212200-95221600	Weak transcription	Spleen	Spleen
42	chr13:95212200-95221800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr13:95212200-95222000	Weak transcription	Pancreas	Pancrea
44	chr13:95212200-95223600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr13:95212400-95222800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr13:95212400-95223400	Weak transcription	HSMM	muscle
47	chr13:95212600-95213600	Enhancers	Dnd41	blood
48	chr13:95212600-95220800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr13:95212600-95220800	Weak transcription	Thymus	Thymus
50	chr13:95212600-95220800	Weak transcription	GM12878-XiMat	blood

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