Variant report

Variant	nsv433269
Chromosome Location	chr13:63328403-63510731
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:63305859..63307828-chr13:63368512..63371200,2	K562	blood:
2	chr10:97173416..97174286-chr13:63349578..63350296,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-20	chr13:63462230-63462334	NONHSAT034156
2	lnc-PCDH20-20	chr13:63458505-63459173	NONHSAT034156
3	lnc-PCDH20-4	chr13:63370693-63370823	XLOC_010638
4	lnc-PCDH20-4	chr13:63368629-63368706	NONHSAT034155
5	lnc-PCDH20-20	chr13:63475482-63475599	NONHSAT034156
6	lnc-PCDH20-20	chr13:63506481-63506671	NONHSAT034156
7	lnc-PCDH20-20	chr13:63474519-63474543	NONHSAT034156
8	lnc-PCDH20-4	chr13:63368629-63368704	XLOC_010638

No data

Variant related genes	Relation type
ENSG00000228669	chromatin interactions
ENSG00000095637	chromatin interactions

Extended variants
information (count: 1740 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1740 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189095176	chr13:63341825-63341826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76305568	chr13:63341859-63341860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73194134	chr13:63341984-63341985	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs529985442	chr13:63341987-63341988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182109980	chr13:63349578-63349579	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558633414	chr13:63349581-63349582	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs143465373	chr13:63349633-63349634	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs543882060	chr13:63349681-63349682	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs188321615	chr13:63349730-63349731	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs9598498	chr13:63349768-63349769	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs17245404	chr13:63349811-63349812	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs560139366	chr13:63349814-63349815	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs148161902	chr13:63349891-63349892	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs545714945	chr13:63349901-63349902	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs77437570	chr13:63349938-63349939	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs537948497	chr13:63349965-63349966	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs114482320	chr13:63350005-63350006	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs8002460	chr13:63350007-63350008	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs554497965	chr13:63350014-63350015	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs568195796	chr13:63350032-63350033	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs569284722	chr13:63350033-63350034	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs530070462	chr13:63350095-63350096	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs191013459	chr13:63350106-63350107	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs567017031	chr13:63350138-63350139	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs370747088	chr13:63350142-63350143	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs564665313	chr13:63350187-63350188	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs142651145	chr13:63350188-63350189	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs534491078	chr13:63350221-63350222	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs77806376	chr13:63350267-63350268	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs146749667	chr13:63350291-63350292	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs541983916	chr13:63350367-63350368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113808143	chr13:63350373-63350374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183698965	chr13:63350393-63350394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574096175	chr13:63350410-63350411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541429801	chr13:63350421-63350422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553715017	chr13:63350462-63350463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572281213	chr13:63350474-63350475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536829842	chr13:63350494-63350495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550282790	chr13:63350502-63350503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546077702	chr13:63350543-63350544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564314977	chr13:63350570-63350571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531494488	chr13:63350576-63350577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188567884	chr13:63350614-63350615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372518034	chr13:63350616-63350617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562943148	chr13:63350656-63350657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530121923	chr13:63350666-63350667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192122742	chr13:63350696-63350697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139204275	chr13:63350702-63350703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528021386	chr13:63350746-63350747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570179863	chr13:63350776-63350777	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63341800-63342000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:63341800-63342000	Enhancers	Gastric	stomach
3	chr13:63350200-63351000	Enhancers	Brain Hippocampus Middle	brain
4	chr13:63352800-63354200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:63353000-63354000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:63353000-63354200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr13:63353400-63354200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr13:63353400-63354400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr13:63362800-63363000	Enhancers	Adipose Nuclei	Adipose
10	chr13:63363000-63366600	Weak transcription	Adipose Nuclei	Adipose
11	chr13:63366600-63367000	Enhancers	Adipose Nuclei	Adipose
12	chr13:63373000-63373200	Enhancers	Adipose Nuclei	Adipose
13	chr13:63373200-63374000	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr13:63373200-63375600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:63374000-63374200	Active TSS	Adipose Nuclei	Adipose
16	chr13:63375000-63375200	Enhancers	Adipose Nuclei	Adipose
17	chr13:63399800-63400200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:63400400-63401600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:63412000-63412200	Enhancers	Hela-S3	cervix
20	chr13:63413000-63413800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr13:63420000-63421400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:63420600-63421000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:63427200-63428200	Enhancers	Dnd41	blood
24	chr13:63431800-63432200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:63431800-63432400	Enhancers	Adipose Nuclei	Adipose
26	chr13:63449000-63449800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:63449600-63450000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:63449800-63452400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr13:63450000-63452400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr13:63452400-63452600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:63452400-63454200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:63452600-63453000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr13:63453000-63453600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr13:63453000-63454000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr13:63453400-63453800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr13:63461000-63461200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr13:63461200-63461600	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr13:63461600-63461800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr13:63461800-63462800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr13:63463000-63463400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr13:63466400-63466600	Active TSS	H9 Cell Line	embryonic stem cell
42	chr13:63480600-63481200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr13:63480600-63481400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr13:63482000-63485400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr13:63482200-63482400	Enhancers	NHDF-Ad	bronchial
46	chr13:63482200-63483000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr13:63482400-63482800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr13:63483000-63484200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr13:63484200-63484800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr13:63484800-63485200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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