Variant report

Variant	nsv562746
Chromosome Location	chr13:93419362-93506864
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	chr13:93495939..93498709-chr13:93498716..93500691,2	MCF-7	breast:
2	chr13:93495939..93498709-chr13:93498716..93500691,2	MCF-7	breast:

Extended variants
information (count: 1017 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1017 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551025372	chr13:93419403-93419404	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs139955338	chr13:93419417-93419418	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs367760384	chr13:93419418-93419419	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs9561145	chr13:93419424-93419425	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs542208919	chr13:93419435-93419436	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs567639052	chr13:93419447-93419448	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs182224776	chr13:93419505-93419506	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs528342526	chr13:93419532-93419533	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs547350702	chr13:93419540-93419541	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs545213239	chr13:93419549-93419550	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs565053898	chr13:93419659-93419660	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs531062793	chr13:93419672-93419673	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs143457726	chr13:93419673-93419674	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs536963095	chr13:93419678-93419679	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs111739253	chr13:93419679-93419680	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs530109394	chr13:93419680-93419681	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs546894189	chr13:93419702-93419703	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs546642872	chr13:93419703-93419704	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs553666161	chr13:93419749-93419750	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs116619739	chr13:93419756-93419757	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs74875391	chr13:93419780-93419781	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs552386501	chr13:93419822-93419823	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs539268349	chr13:93419930-93419931	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs532864179	chr13:93419966-93419967	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs569098024	chr13:93420009-93420010	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs200617561	chr13:93420107-93420108	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs536794746	chr13:93420149-93420150	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs532880302	chr13:93420801-93420802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185826540	chr13:93420850-93420851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569159394	chr13:93420946-93420947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538056026	chr13:93421047-93421048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112468988	chr13:93421049-93421050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536719117	chr13:93421067-93421068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556554400	chr13:93421142-93421143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573259852	chr13:93421149-93421150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535946118	chr13:93421160-93421161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183515041	chr13:93421203-93421204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs202174620	chr13:93421212-93421213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188509504	chr13:93421213-93421214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538982337	chr13:93421229-93421230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149933030	chr13:93421259-93421260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114142836	chr13:93421299-93421300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544440391	chr13:93421318-93421319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542516362	chr13:93421334-93421335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs193103225	chr13:93421342-93421343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145222117	chr13:93421398-93421399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373221680	chr13:93421426-93421427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149170452	chr13:93421435-93421436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573042903	chr13:93421450-93421451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183453777	chr13:93421562-93421563	Enhancers	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
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
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

Chromatin state (count:242 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93419400-93420000	Active TSS	Duodenum Mucosa	Duodenum
2	chr13:93419600-93420200	Active TSS	Ovary	ovary
3	chr13:93420000-93420200	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr13:93420800-93421200	Enhancers	Colon Smooth Muscle	Colon
5	chr13:93421000-93421800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:93421600-93422400	Enhancers	Fetal Intestine Large	intestine
7	chr13:93427600-93428200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:93452600-93452800	Enhancers	Fetal Kidney	kidney
9	chr13:93453200-93453400	Enhancers	HSMM	muscle
10	chr13:93453400-93455200	Weak transcription	HSMM	muscle
11	chr13:93453800-93454400	Weak transcription	Aorta	Aorta
12	chr13:93454400-93454600	Enhancers	Aorta	Aorta
13	chr13:93454400-93458000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:93454600-93458200	Weak transcription	Aorta	Aorta
15	chr13:93454800-93458200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:93454800-93458400	Weak transcription	Fetal Kidney	kidney
17	chr13:93455000-93455600	Enhancers	Osteobl	bone
18	chr13:93455000-93457600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr13:93455000-93458200	Enhancers	NHLF	lung
20	chr13:93455200-93455400	Enhancers	Stomach Mucosa	stomach
21	chr13:93455200-93455400	Enhancers	HSMMtube	muscle
22	chr13:93455200-93455600	Enhancers	NHEK	skin
23	chr13:93455200-93457600	Enhancers	HSMM	muscle
24	chr13:93455200-93458000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr13:93455400-93455600	Enhancers	Adipose Nuclei	Adipose
26	chr13:93455400-93456400	Weak transcription	HSMMtube	muscle
27	chr13:93455400-93458000	Weak transcription	Stomach Mucosa	stomach
28	chr13:93455600-93456000	Weak transcription	NHEK	skin
29	chr13:93455600-93456000	Weak transcription	Osteobl	bone
30	chr13:93455600-93458200	Weak transcription	Adipose Nuclei	Adipose
31	chr13:93456000-93456200	Enhancers	NHEK	skin
32	chr13:93456000-93458200	Enhancers	Osteobl	bone
33	chr13:93456200-93458200	Weak transcription	NHEK	skin
34	chr13:93456400-93456800	Enhancers	NHDF-Ad	bronchial
35	chr13:93456400-93457000	Enhancers	HSMMtube	muscle
36	chr13:93456400-93457400	Enhancers	NH-A	brain
37	chr13:93456800-93457200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr13:93456800-93457200	Weak transcription	NHDF-Ad	bronchial
39	chr13:93457000-93457200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr13:93457000-93458200	Weak transcription	HSMMtube	muscle
41	chr13:93457200-93457400	Enhancers	NHDF-Ad	bronchial
42	chr13:93457200-93458200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:93457400-93458200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr13:93457400-93458400	Weak transcription	NH-A	brain
45	chr13:93457400-93458400	Weak transcription	NHDF-Ad	bronchial
46	chr13:93457600-93458400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr13:93457600-93458400	Weak transcription	HSMM	muscle
48	chr13:93457800-93458000	Enhancers	Dnd41	blood
49	chr13:93457800-93458600	Active TSS	Liver	Liver
50	chr13:93458000-93458200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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