Variant report

Variant	nsv900415
Chromosome Location	chr13:67521014-67542554
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	chr13:67517858..67520029-chr13:67533541..67536022,2	K562	blood:

Extended variants
information (count: 706 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:706 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535380580	chr13:67521617-67521618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188125005	chr13:67521720-67521721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572081494	chr13:67521762-67521763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540705093	chr13:67521781-67521782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557966388	chr13:67521787-67521788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577807798	chr13:67521820-67521821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543753192	chr13:67521824-67521825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563593257	chr13:67521829-67521830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573960405	chr13:67521853-67521854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542973402	chr13:67521932-67521933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369841588	chr13:67521945-67521946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12876104	chr13:67521958-67521959	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs532262320	chr13:67522018-67522019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142266493	chr13:67522086-67522087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77102035	chr13:67522098-67522099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190952241	chr13:67522113-67522114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533156459	chr13:67522120-67522121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550099849	chr13:67522145-67522146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375768835	chr13:67522202-67522203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569888221	chr13:67522205-67522206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9571700	chr13:67522224-67522225	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs548993772	chr13:67522251-67522252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11312278	chr13:67522259-67522260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116363541	chr13:67522266-67522267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534453488	chr13:67522316-67522317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182764135	chr13:67522345-67522346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377419102	chr13:67522365-67522366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537208565	chr13:67522403-67522404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376569898	chr13:67522426-67522427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574247235	chr13:67522511-67522512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542928880	chr13:67522593-67522594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34932446	chr13:67522666-67522667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75672202	chr13:67522667-67522668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371120504	chr13:67522707-67522708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566445378	chr13:67522785-67522786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573263345	chr13:67522814-67522815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200048222	chr13:67522845-67522846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571080123	chr13:67522877-67522878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565330287	chr13:67522890-67522891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533168533	chr13:67522949-67522950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374809735	chr13:67523007-67523008	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs189019377	chr13:67523052-67523053	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs192339619	chr13:67523100-67523101	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs112573918	chr13:67523141-67523142	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs554307507	chr13:67523151-67523152	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs61959217	chr13:67523153-67523154	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs549000305	chr13:67523200-67523201	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs367831299	chr13:67523225-67523226	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs369384869	chr13:67523246-67523247	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs9540953	chr13:67523258-67523259	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:97)

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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Schizophrenia	23813976	CNVD
Prostate cancer	22341455	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67521600-67523400	Enhancers	A549	lung
2	chr13:67521800-67526400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr13:67522000-67522200	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr13:67522400-67525400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:67522400-67526800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr13:67522600-67523000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr13:67522600-67526400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr13:67522800-67523000	Enhancers	Brain Anterior Caudate	brain
9	chr13:67522800-67523200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:67522800-67526400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr13:67522800-67526600	Enhancers	Brain Hippocampus Middle	brain
12	chr13:67523000-67523400	Flanking Active TSS	Brain Anterior Caudate	brain
13	chr13:67523000-67523400	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr13:67523000-67524600	Enhancers	Brain Cingulate Gyrus	brain
15	chr13:67523000-67525800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:67523000-67526400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr13:67523200-67523600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr13:67523200-67523800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr13:67523200-67523800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr13:67523200-67524600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr13:67523400-67523600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr13:67523400-67523600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr13:67523400-67523800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr13:67523400-67523800	Enhancers	Brain Angular Gyrus	brain
25	chr13:67523400-67523800	Enhancers	Fetal Brain Male	brain
26	chr13:67523400-67526400	Enhancers	Brain Anterior Caudate	brain
27	chr13:67523400-67531200	Weak transcription	A549	lung
28	chr13:67523600-67523800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr13:67523600-67524400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr13:67523600-67525400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr13:67523800-67524200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr13:67523800-67524800	Weak transcription	Brain Angular Gyrus	brain
33	chr13:67523800-67525200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr13:67523800-67525200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr13:67523800-67526600	Enhancers	Brain Substantia Nigra	brain
36	chr13:67524200-67524400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr13:67524400-67524800	Enhancers	Brain Germinal Matrix	brain
38	chr13:67524400-67525200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr13:67524400-67526400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr13:67524400-67526400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr13:67524600-67525000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr13:67524600-67525200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr13:67524800-67525600	Enhancers	Brain Angular Gyrus	brain
44	chr13:67525000-67526400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr13:67525200-67525400	Enhancers	Brain Cingulate Gyrus	brain
46	chr13:67525200-67525800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr13:67525200-67526000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:67525200-67526400	Enhancers	H1 Cell Line	embryonic stem cell
49	chr13:67525200-67526600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr13:67525400-67525800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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