Variant report

Variant	nsv562091
Chromosome Location	chr13:65991906-66149008
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:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:106318966..106319467-chr13:66093606..66094106,2	NB4	blood:
2	chr13:66014665..66017459-chr13:66017619..66020223,2	MCF-7	breast:
3	chr13:66014665..66017459-chr13:66017619..66020223,2	MCF-7	breast:
4	chr13:65802985..65805270-chr13:66070535..66073117,2	K562	blood:
5	chr13:66046639..66047382-chr3:13541452..13542407,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH9-7	chr13:66017513-66017582	NONHSAT034194
2	lnc-PCDH9-7	chr13:66035510-66035584	NONHSAT034194
3	lnc-PCDH9-7	chr13:66015947-66016044	NONHSAT034194

No data

Extended variants
information (count: 2174 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:2174 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9598973	chr13:65991906-65991907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563904619	chr13:65991920-65991921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529485081	chr13:65991927-65991928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183695924	chr13:65991928-65991929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560007496	chr13:65991943-65991944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528735181	chr13:65991960-65991961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189145693	chr13:65991987-65991988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539183584	chr13:65992019-65992020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140928012	chr13:65992050-65992051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs60122996	chr13:65992059-65992060	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs73510678	chr13:65992131-65992132	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs576188952	chr13:65992142-65992143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143235751	chr13:65992168-65992169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565965865	chr13:65992177-65992178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534584371	chr13:65992243-65992244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558145499	chr13:65992267-65992268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192540327	chr13:65992268-65992269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543958969	chr13:65992320-65992321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34971731	chr13:65992323-65992324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73510680	chr13:65992344-65992345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs574144264	chr13:65992363-65992364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368873926	chr13:65992392-65992393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559664215	chr13:65992468-65992469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77566488	chr13:65992480-65992481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545362733	chr13:65992483-65992484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564136516	chr13:65992508-65992509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116557929	chr13:65992557-65992558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140090118	chr13:65992558-65992559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150493655	chr13:65992575-65992576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185722422	chr13:65992581-65992582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78766604	chr13:65992624-65992625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190222610	chr13:65992631-65992632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562533697	chr13:65992635-65992636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528907509	chr13:65992728-65992729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73209126	chr13:65992774-65992775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181839032	chr13:65992789-65992790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534950155	chr13:65992802-65992803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373546945	chr13:65992818-65992819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142588097	chr13:65992821-65992822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146816048	chr13:65992836-65992837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12877881	chr13:65992870-65992871	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs139208099	chr13:65992875-65992876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574205039	chr13:65992922-65992923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9540413	chr13:65992984-65992985	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs553566348	chr13:65993050-65993051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186443281	chr13:65993063-65993064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545730689	chr13:65993086-65993087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565229751	chr13:65993107-65993108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188737515	chr13:65993150-65993151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150467277	chr13:65993182-65993183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Intellectual disability	21811512	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65991200-65992200	Weak transcription	Fetal Lung	lung
2	chr13:65992000-65992400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr13:65992000-65993400	Enhancers	Fetal Kidney	kidney
4	chr13:65992200-65992400	Enhancers	Fetal Lung	lung
5	chr13:65992200-65992600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr13:65992600-65993800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr13:65992800-65993800	Enhancers	Brain Germinal Matrix	brain
8	chr13:65993800-65994200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr13:65993800-65994400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr13:66009000-66010400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:66009400-66010200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr13:66009600-66010200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:66009800-66010200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr13:66010200-66015800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr13:66010200-66031600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:66015800-66016000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr13:66016000-66018600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr13:66018800-66019000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr13:66028200-66028800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr13:66031600-66031800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr13:66031800-66035800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr13:66033400-66034000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr13:66033400-66036000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr13:66033600-66034000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr13:66033600-66036200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr13:66033800-66034800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr13:66033800-66035800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr13:66034000-66034200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr13:66034000-66034200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr13:66034000-66034400	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr13:66034200-66034400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr13:66034400-66034600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr13:66034400-66034800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr13:66034400-66035600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr13:66034400-66036000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr13:66034600-66036200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr13:66034800-66036000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr13:66035400-66036200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr13:66035600-66036000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr13:66035600-66036000	Enhancers	Adipose Nuclei	Adipose
41	chr13:66035600-66036200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:66035600-66036200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr13:66035600-66036400	Enhancers	H9 Cell Line	embryonic stem cell
44	chr13:66035600-66036400	Enhancers	Hela-S3	cervix
45	chr13:66035800-66036200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr13:66035800-66036400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr13:66041600-66042400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr13:66041600-66044400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr13:66041800-66043800	Enhancers	Primary hematopoietic stem cells	blood
50	chr13:66042000-66044400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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