Variant report

Variant	esv3369976
Chromosome Location	chr13:62469351-62474849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 176 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553587381	chr13:62470409-62470410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372403609	chr13:62470419-62470420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571890030	chr13:62470468-62470469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551731830	chr13:62470498-62470499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189016204	chr13:62470530-62470531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372659790	chr13:62470579-62470580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375131509	chr13:62470613-62470614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571280298	chr13:62470661-62470662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143299296	chr13:62470665-62470666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1953049	chr13:62470705-62470706	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs566792815	chr13:62470710-62470711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534208551	chr13:62470730-62470731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77568091	chr13:62470744-62470745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530253510	chr13:62470754-62470755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548377944	chr13:62470794-62470795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560694629	chr13:62470819-62470820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs151140739	chr13:62470823-62470824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552915571	chr13:62470833-62470834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371940814	chr13:62470870-62470871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113944776	chr13:62470891-62470892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181726307	chr13:62470922-62470923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576770566	chr13:62470952-62470953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150470624	chr13:62470999-62471000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187425490	chr13:62471062-62471063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553425584	chr13:62471064-62471065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145413075	chr13:62471067-62471068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189132864	chr13:62471073-62471074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567226404	chr13:62471076-62471077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557630703	chr13:62471084-62471085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17060543	chr13:62471147-62471148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs550229937	chr13:62471180-62471181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76915914	chr13:62471221-62471222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574718227	chr13:62471243-62471244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542364468	chr13:62471246-62471247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373421488	chr13:62471276-62471277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57839613	chr13:62471312-62471313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs3085378	chr13:62471319-62471320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181074646	chr13:62471348-62471349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538382277	chr13:62471350-62471351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71439918	chr13:62471381-62471382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs570100426	chr13:62471382-62471383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9570630	chr13:62471408-62471409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9317205	chr13:62471421-62471422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs550187827	chr13:62471452-62471453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9570631	chr13:62471464-62471465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574389384	chr13:62471476-62471477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115717371	chr13:62471509-62471510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146818344	chr13:62471527-62471528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547097774	chr13:62471582-62471583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17205601	chr13:62471617-62471618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

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
small cell lung cancer	20016488	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
Lung cancer	18438408	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
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62470400-62470800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:62470800-62474400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:62473000-62473200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr13:62473200-62474000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr13:62473400-62474200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr13:62473800-62474400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr13:62474000-62475800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr13:62474200-62474400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr13:62474200-62475000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:62474200-62475000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr13:62474200-62475400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr13:62474200-62475600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr13:62474200-62475800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr13:62474400-62474600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr13:62474400-62474800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:62474400-62475400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr13:62474600-62474800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr13:62474600-62475000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:62474600-62475600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr13:62474800-62475000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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