Variant report

Variant	nsv471140
Chromosome Location	chr13:65992984-66149008
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	chr13:65802985..65805270-chr13:66070535..66073117,2	K562	blood:
2	chr13:66046639..66047382-chr3:13541452..13542407,2	MCF-7	breast:
3	chr13:66014665..66017459-chr13:66017619..66020223,2	MCF-7	breast:
4	chr13:66014665..66017459-chr13:66017619..66020223,2	MCF-7	breast:
5	chr1:106318966..106319467-chr13:66093606..66094106,2	NB4	blood:

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

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

No data

Extended variants
information (count: 2131 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:2131 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9540413	chr13:65992984-65992985	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553566348	chr13:65993050-65993051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186443281	chr13:65993063-65993064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545730689	chr13:65993086-65993087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565229751	chr13:65993107-65993108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188737515	chr13:65993150-65993151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150467277	chr13:65993182-65993183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543017601	chr13:65993206-65993207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558166285	chr13:65993211-65993212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373131437	chr13:65993217-65993218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201655106	chr13:65993229-65993230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562915114	chr13:65993323-65993324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551328111	chr13:65993338-65993339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs180750084	chr13:65993348-65993349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569752509	chr13:65993378-65993379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548786087	chr13:65993389-65993390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565893565	chr13:65993402-65993403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143145043	chr13:65993409-65993410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551692378	chr13:65993418-65993419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571570765	chr13:65993421-65993422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9540414	chr13:65993460-65993461	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs551013295	chr13:65993470-65993471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143699052	chr13:65993523-65993524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185315182	chr13:65993539-65993540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553189384	chr13:65993572-65993573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549114133	chr13:65993621-65993622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556404175	chr13:65993638-65993639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538867529	chr13:65993643-65993644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143898605	chr13:65993699-65993700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558677854	chr13:65993705-65993706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575554185	chr13:65993732-65993733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370196676	chr13:65993740-65993741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7999491	chr13:65993743-65993744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9540415	chr13:65993748-65993749	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs562976318	chr13:65993757-65993758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7999507	chr13:65993764-65993765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573531699	chr13:65993768-65993769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542752502	chr13:65993771-65993772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559172120	chr13:65993782-65993783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7999837	chr13:65993786-65993787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528144792	chr13:65993850-65993851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7999861	chr13:65993910-65993911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74415365	chr13:65993937-65993938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190863718	chr13:65993948-65993949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565041874	chr13:65993972-65993973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74090558	chr13:65994004-65994005	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs8000075	chr13:65994058-65994059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141836831	chr13:65994069-65994070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184011552	chr13:65994080-65994081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536243775	chr13:65994089-65994090	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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65992000-65993400	Enhancers	Fetal Kidney	kidney
2	chr13:65992600-65993800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr13:65992800-65993800	Enhancers	Brain Germinal Matrix	brain
4	chr13:65993800-65994200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:65993800-65994400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr13:66009000-66010400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:66009400-66010200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr13:66009600-66010200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr13:66009800-66010200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr13:66010200-66015800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr13:66010200-66031600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:66015800-66016000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr13:66016000-66018600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr13:66018800-66019000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr13:66028200-66028800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr13:66031600-66031800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:66031800-66035800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr13:66033400-66034000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr13:66033400-66036000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr13:66033600-66034000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr13:66033600-66036200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr13:66033800-66034800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr13:66033800-66035800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr13:66034000-66034200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr13:66034000-66034200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr13:66034000-66034400	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr13:66034200-66034400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr13:66034400-66034600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr13:66034400-66034800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr13:66034400-66035600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr13:66034400-66036000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr13:66034600-66036200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr13:66034800-66036000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr13:66035400-66036200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr13:66035600-66036000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr13:66035600-66036000	Enhancers	Adipose Nuclei	Adipose
37	chr13:66035600-66036200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:66035600-66036200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr13:66035600-66036400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr13:66035600-66036400	Enhancers	Hela-S3	cervix
41	chr13:66035800-66036200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr13:66035800-66036400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr13:66041600-66042400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr13:66041600-66044400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr13:66041800-66043800	Enhancers	Primary hematopoietic stem cells	blood
46	chr13:66042000-66044400	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr13:66042400-66042800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr13:66042400-66043000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr13:66042400-66043200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr13:66042400-66043200	Enhancers	Primary monocytes fromperipheralblood	blood

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