Variant report

Variant	nsv562198
Chromosome Location	chr13:69424751-69456954
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:4)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:69438717..69440624-chr13:69443493..69445736,2	MCF-7	breast:
2	chr13:69438717..69440624-chr13:69443493..69445736,2	MCF-7	breast:
3	chr13:69443623..69445703-chr13:69462131..69463652,2	K562	blood:
4	chr13:69342465..69344656-chr13:69450218..69452422,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL1-1	chr13:69444195-69444346	XLOC_010651
2	lnc-KLHL1-1	chr13:69435417-69438548	NONHSAT034238
3	lnc-KLHL1-1	chr13:69444195-69444346	NONHSAT034238
4	lnc-KLHL1-1	chr13:69435419-69438548	XLOC_010651

No data

Extended variants
information (count: 1036 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1036 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs661827	chr13:69424751-69424752	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537859462	chr13:69424755-69424756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138708226	chr13:69424757-69424758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574477966	chr13:69424800-69424801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540305735	chr13:69424847-69424848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550572141	chr13:69424853-69424854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1770329	chr13:69424941-69424942	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs576961562	chr13:69424943-69424944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545543769	chr13:69424954-69424955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562452084	chr13:69425015-69425016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143143098	chr13:69425036-69425037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544220884	chr13:69425059-69425060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147055605	chr13:69425081-69425082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138487837	chr13:69425174-69425175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370107183	chr13:69425227-69425228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547068372	chr13:69425228-69425229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530079824	chr13:69425243-69425244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180835281	chr13:69425254-69425255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs58269096	chr13:69425303-69425304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186434391	chr13:69425308-69425309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569595634	chr13:69425357-69425358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554755031	chr13:69425367-69425368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538519489	chr13:69425380-69425381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560524732	chr13:69425384-69425385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115413620	chr13:69425399-69425400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568037688	chr13:69425424-69425425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533694161	chr13:69425441-69425442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190837701	chr13:69425500-69425501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372796837	chr13:69425516-69425517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182990127	chr13:69425563-69425564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545608936	chr13:69425574-69425575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555909944	chr13:69425575-69425576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187454125	chr13:69425618-69425619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7984316	chr13:69425647-69425648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573935879	chr13:69425669-69425670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191449754	chr13:69425698-69425699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540223283	chr13:69425715-69425716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560653386	chr13:69425763-69425764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532626539	chr13:69425770-69425771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs669282	chr13:69425820-69425821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs635923	chr13:69425870-69425871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs144393515	chr13:69425891-69425892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs5804405	chr13:69425920-69425921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs397789386	chr13:69425929-69425930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115153413	chr13:69425945-69425946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556111604	chr13:69426005-69426006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568611021	chr13:69426017-69426018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575093425	chr13:69426019-69426020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542118306	chr13:69426025-69426026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533790013	chr13:69426048-69426049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22737080	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69420600-69448400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:69424200-69424800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:69424200-69425200	Enhancers	NH-A	brain
4	chr13:69438000-69438200	ZNF genes & repeats	Pancreas	Pancrea
5	chr13:69439600-69440200	Active TSS	Fetal Brain Male	brain
6	chr13:69443000-69443200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:69443200-69443600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:69443600-69444400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:69448600-69448800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:69453000-69454800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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