Variant report

Variant	nsv1041341
Chromosome Location	chr13:64606955-64639095
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:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:64625157..64626688-chr13:64631104..64632843,2	K562	blood:
2	chr13:64597503..64599019-chr13:64609269..64611005,2	K562	blood:
3	chr13:64611241..64613586-chr13:64615130..64617717,2	K562	blood:
4	chr13:64611241..64613586-chr13:64615130..64617717,2	K562	blood:
5	chr13:64632651..64634373-chr13:64649799..64652213,2	K562	blood:
6	chr13:64637718..64641008-chr13:64648657..64651427,4	K562	blood:
7	chr13:64637404..64639561-chr13:64642021..64643825,2	K562	blood:
8	chr13:64629925..64632065-chr13:64645172..64647089,2	K562	blood:
9	chr13:64573569..64576340-chr13:64627433..64629862,2	K562	blood:
10	chr13:64625157..64626688-chr13:64631104..64632843,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH9-4	chr13:64608480-64608670	NONHSAT034190

No data

Variant related genes	Relation type
ENSG00000227674	chromatin interactions

Extended variants
information (count: 607 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:607 , 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	rs188595494	chr13:64608205-64608206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564596503	chr13:64608233-64608234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192549981	chr13:64608247-64608248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114237396	chr13:64608298-64608299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566618439	chr13:64608300-64608301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568392554	chr13:64608361-64608362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532062107	chr13:64608421-64608422	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs113972435	chr13:64608423-64608424	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs529175774	chr13:64608450-64608451	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs142649799	chr13:64608452-64608453	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs565489734	chr13:64608457-64608458	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs539269669	chr13:64608479-64608480	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs570931002	chr13:64608507-64608508	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
14	rs145823968	chr13:64608508-64608509	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
15	rs536774289	chr13:64608514-64608515	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
16	rs555340312	chr13:64608537-64608538	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
17	rs269583	chr13:64608552-64608553	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
18	rs148971499	chr13:64608574-64608575	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
19	rs41283944	chr13:64608604-64608605	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
20	rs572651096	chr13:64608638-64608639	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
21	rs546437650	chr13:64608653-64608654	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
22	rs185308558	chr13:64608686-64608687	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs531813254	chr13:64608710-64608711	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs269584	chr13:64608757-64608758	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs562070948	chr13:64608759-64608760	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs529272892	chr13:64608797-64608798	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs34483063	chr13:64615404-64615405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143545749	chr13:64615433-64615434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565586762	chr13:64615470-64615471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369928260	chr13:64615530-64615531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34242334	chr13:64615532-64615533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557578234	chr13:64615655-64615656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373813001	chr13:64615668-64615669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78827911	chr13:64615701-64615702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555430763	chr13:64615730-64615731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs269640	chr13:64615746-64615747	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs76022476	chr13:64615784-64615785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs269639	chr13:64615786-64615787	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs181801875	chr13:64615787-64615788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540890200	chr13:64621448-64621449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559012057	chr13:64621454-64621455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140170203	chr13:64621475-64621476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544806240	chr13:64621492-64621493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79196813	chr13:64621494-64621495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542691147	chr13:64621498-64621499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143365256	chr13:64621522-64621523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542346350	chr13:64621525-64621526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374737944	chr13:64621574-64621575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560456792	chr13:64621598-64621599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187120235	chr13:64621623-64621624	Enhancers	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64608200-64608600	Enhancers	Fetal Lung	lung
2	chr13:64608200-64608800	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr13:64608400-64608800	ZNF genes & repeats	Pancreas	Pancrea
4	chr13:64615400-64615800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:64621400-64622000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:64623400-64624000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:64624000-64624400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:64626600-64628800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr13:64626800-64627000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr13:64627000-64627200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr13:64627200-64627400	Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr13:64627400-64627600	Enhancers	K562	blood
13	chr13:64627400-64627800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr13:64627600-64631400	Weak transcription	K562	blood
15	chr13:64627800-64629800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr13:64627800-64630200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr13:64629800-64630000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr13:64630000-64630200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr13:64630200-64630400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr13:64630400-64630600	Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr13:64630600-64631400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr13:64631400-64631800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr13:64631400-64632000	Enhancers	HepG2	liver
24	chr13:64631400-64632800	Enhancers	K562	blood
25	chr13:64632000-64646200	Weak transcription	HepG2	liver
26	chr13:64634600-64635200	Enhancers	Brain Germinal Matrix	brain
27	chr13:64635800-64636200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr13:64636200-64640600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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