Variant report

Variant	nsv562752
Chromosome Location	chr13:94228746-94253347
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	chr13:94234119..94234981-chr3:29063764..29064299,2	MCF-7	breast:

Extended variants
information (count: 374 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530985533	chr13:94230010-94230011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114458178	chr13:94230024-94230025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576330084	chr13:94230088-94230089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369107582	chr13:94230122-94230123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529225378	chr13:94230165-94230166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549284851	chr13:94230166-94230167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547756389	chr13:94230252-94230253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565720367	chr13:94230289-94230290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143464016	chr13:94230296-94230297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180729345	chr13:94230349-94230350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571265882	chr13:94230367-94230368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560804410	chr13:94230502-94230503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537117084	chr13:94230518-94230519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570701444	chr13:94230525-94230526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537808183	chr13:94230623-94230624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370196627	chr13:94230624-94230625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183581970	chr13:94230646-94230647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76313860	chr13:94230664-94230665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542946099	chr13:94230687-94230688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188664868	chr13:94230746-94230747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368668028	chr13:94230767-94230768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553239633	chr13:94230784-94230785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146744904	chr13:94230806-94230807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545002543	chr13:94230813-94230814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572217499	chr13:94230874-94230875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181236198	chr13:94230896-94230897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113534301	chr13:94230897-94230898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34203295	chr13:94230913-94230914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73541541	chr13:94230927-94230928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs544664745	chr13:94230949-94230950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535555287	chr13:94230968-94230969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563365194	chr13:94230985-94230986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529091258	chr13:94231028-94231029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549344523	chr13:94231063-94231064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186999384	chr13:94231080-94231081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540850061	chr13:94231189-94231190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551108196	chr13:94231247-94231248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571195446	chr13:94231268-94231269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148908224	chr13:94231280-94231281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557657451	chr13:94231288-94231289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555436117	chr13:94231293-94231294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373410275	chr13:94231294-94231295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9561403	chr13:94231314-94231315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs553102700	chr13:94231354-94231355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9556309	chr13:94231366-94231367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs75003475	chr13:94231377-94231378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191382166	chr13:94231455-94231456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142590553	chr13:94231532-94231533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544420420	chr13:94231537-94231538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553534153	chr13:94231545-94231546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	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

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94230000-94230200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr13:94230200-94231800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr13:94231800-94233000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr13:94235000-94235200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr13:94235200-94235400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr13:94242000-94242600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr13:94248200-94248800	Enhancers	HepG2	liver
8	chr13:94248400-94248800	Active TSS	Gastric	stomach
9	chr13:94248600-94251600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr13:94248800-94249200	Weak transcription	HepG2	liver
11	chr13:94249200-94249800	Enhancers	HepG2	liver
12	chr13:94251600-94252400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr13:94251600-94252800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr13:94251800-94252200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr13:94251800-94259600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:94252200-94254600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr13:94252400-94252800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:94252400-94267600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr13:94252800-94254600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr13:94252800-94255200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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