Variant report

Variant	nsv512322
Chromosome Location	chr13:63617446-63621978
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:63620345..63622864-chr17:21666900..21668712,2	K562	blood:
2	chr13:63619880..63624018-chr17:21665172..21668893,6	K562	blood:
3	chr13:63619768..63621405-chr17:21665172..21666856,2	MCF-7	breast:

Extended variants
information (count: 377 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:377 , 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	rs79322939	chr13:63617467-63617468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558227372	chr13:63617470-63617471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576504744	chr13:63617481-63617482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76280130	chr13:63617490-63617491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117468294	chr13:63617491-63617492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs118152787	chr13:63617502-63617503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs60812967	chr13:63617507-63617508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371558409	chr13:63617511-63617512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79700681	chr13:63617517-63617518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144077546	chr13:63617518-63617519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201186978	chr13:63617519-63617520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368074232	chr13:63617547-63617548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73195373	chr13:63617548-63617549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73195374	chr13:63617551-63617552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74687892	chr13:63617557-63617558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574214666	chr13:63617564-63617565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78806498	chr13:63617566-63617567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75589053	chr13:63617571-63617572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74086659	chr13:63617587-63617588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201902443	chr13:63617591-63617592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143676955	chr13:63617592-63617593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77006718	chr13:63617593-63617594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78913207	chr13:63617622-63617623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77718813	chr13:63617629-63617630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75306493	chr13:63617656-63617657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541632254	chr13:63617661-63617662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559667115	chr13:63617667-63617668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533080199	chr13:63617714-63617715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78299886	chr13:63617729-63617730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78122703	chr13:63617740-63617741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551051669	chr13:63617762-63617763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79796710	chr13:63617784-63617785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75458003	chr13:63617793-63617794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562990797	chr13:63617805-63617806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577888229	chr13:63617806-63617807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74086660	chr13:63617824-63617825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73195376	chr13:63617833-63617834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74350807	chr13:63617839-63617840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73195377	chr13:63617851-63617852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79103646	chr13:63617852-63617853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78274821	chr13:63617876-63617877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372292776	chr13:63617883-63617884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79258003	chr13:63617894-63617895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530427427	chr13:63617898-63617899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78075124	chr13:63617925-63617926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80277942	chr13:63617944-63617945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2780363	chr13:63617967-63617968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76669378	chr13:63617968-63617969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73195380	chr13:63617972-63617973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2780364	chr13:63617974-63617975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63616000-63619000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr13:63617200-63618800	Weak transcription	Fetal Lung	lung
3	chr13:63617200-63619800	Weak transcription	Psoas Muscle	Psoas
4	chr13:63618600-63619000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:63618600-63619000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr13:63618600-63619000	Enhancers	Colon Smooth Muscle	Colon
7	chr13:63618800-63619000	Active TSS	Lung	lung
8	chr13:63618800-63619200	Enhancers	Fetal Lung	lung
9	chr13:63618800-63619200	Enhancers	Pancreas	Pancrea
10	chr13:63618800-63619200	Enhancers	Stomach Smooth Muscle	stomach
11	chr13:63619000-63619200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:63619000-63619200	Flanking Active TSS	Lung	lung
13	chr13:63619200-63619600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr13:63619600-63620400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:63621200-63622000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:63621200-63627400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr13:63621400-63621600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr13:63621400-63621800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr13:63621400-63622200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr13:63621400-63622400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
21	chr13:63621400-63622400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:63621600-63621800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr13:63621600-63622200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr13:63621600-63622200	Enhancers	K562	blood
25	chr13:63621600-63622200	ZNF genes & repeats	NHDF-Ad	bronchial
26	chr13:63621800-63622000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr13:63621800-63622200	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell

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