Variant report

Variant	esv2754176
Chromosome Location	chr13:63358172-63449509
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	chr13:63305859..63307828-chr13:63368512..63371200,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-4	chr13:63368629-63368706	NONHSAT034155
2	lnc-PCDH20-4	chr13:63370693-63370823	XLOC_010638
3	lnc-PCDH20-4	chr13:63368629-63368704	XLOC_010638

Variant related genes	Relation type
ENSG00000228669	chromatin interactions

Extended variants
information (count: 618 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:618 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549565549	chr13:63362818-63362819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547301948	chr13:63362828-63362829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561689076	chr13:63362848-63362849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528861300	chr13:63362856-63362857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7319717	chr13:63362858-63362859	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs566009974	chr13:63362883-63362884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529508498	chr13:63362891-63362892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539351841	chr13:63362913-63362914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373930699	chr13:63362950-63362951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188529753	chr13:63362957-63362958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74700125	chr13:63362966-63362967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556352336	chr13:63362980-63362981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376145547	chr13:63362997-63362998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574505231	chr13:63363012-63363013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145634548	chr13:63363039-63363040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577423724	chr13:63363059-63363060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373611933	chr13:63363072-63363073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115889640	chr13:63363083-63363084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6562295	chr13:63363084-63363085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs115113969	chr13:63363086-63363087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75820770	chr13:63363092-63363093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543520737	chr13:63363106-63363107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561801177	chr13:63363125-63363126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528977102	chr13:63363171-63363172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77995797	chr13:63363186-63363187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539659234	chr13:63363232-63363233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111650407	chr13:63363233-63363234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551337148	chr13:63363236-63363237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181749724	chr13:63363257-63363258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141224546	chr13:63363297-63363298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9598500	chr13:63363302-63363303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs370328581	chr13:63363324-63363325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373544826	chr13:63363341-63363342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145006162	chr13:63363372-63363373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568241753	chr13:63363476-63363477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535549160	chr13:63363503-63363504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553789978	chr13:63363520-63363521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565696712	chr13:63363531-63363532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112540811	chr13:63363584-63363585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540147122	chr13:63363592-63363593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116899958	chr13:63363597-63363598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7325971	chr13:63363653-63363654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs370984980	chr13:63363674-63363675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201701968	chr13:63363677-63363678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9592214	chr13:63363689-63363690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs202239673	chr13:63363694-63363695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201805700	chr13:63363695-63363696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186778168	chr13:63363722-63363723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113695468	chr13:63363749-63363750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532761341	chr13:63363777-63363778	Weak transcription	n/a	n/a	Overlapped CNVs	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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63362800-63363000	Enhancers	Adipose Nuclei	Adipose
2	chr13:63363000-63366600	Weak transcription	Adipose Nuclei	Adipose
3	chr13:63366600-63367000	Enhancers	Adipose Nuclei	Adipose
4	chr13:63373000-63373200	Enhancers	Adipose Nuclei	Adipose
5	chr13:63373200-63374000	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr13:63373200-63375600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:63374000-63374200	Active TSS	Adipose Nuclei	Adipose
8	chr13:63375000-63375200	Enhancers	Adipose Nuclei	Adipose
9	chr13:63399800-63400200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:63400400-63401600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:63412000-63412200	Enhancers	Hela-S3	cervix
12	chr13:63413000-63413800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr13:63420000-63421400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:63420600-63421000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:63427200-63428200	Enhancers	Dnd41	blood
16	chr13:63431800-63432200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr13:63431800-63432400	Enhancers	Adipose Nuclei	Adipose
18	chr13:63449000-63449800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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