Variant report

Variant	nsv900249
Chromosome Location	chr13:62133250-62218811
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:1)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:62211559..62212343-chr14:96157121..96158031,2	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-12	chr13:62204428-62204498	l_861_chr13:62203870-62268824_testes
2	lnc-PCDH20-12	chr13:62172750-62172831	NONHSAT034130
3	lnc-TDRD3-5	chr13:62147714-62147990	XLOC_010406
4	lnc-PCDH20-12	chr13:62144419-62144592	NONHSAT034130
5	lnc-PCDH20-12	chr13:62204228-62204314	NONHSAT034130
6	lnc-PCDH20-12	chr13:62203994-62204329	NONHSAT034131
7	lnc-PCDH20-12	chr13:62158139-62158228	NONHSAT034130
8	lnc-PCDH20-12	chr13:62214374-62214543	l_861_chr13:62203870-62268824_testes
9	lnc-PCDH20-12	chr13:62203871-62204329	l_861_chr13:62203870-62268824_testes
10	lnc-TDRD3-5	chr13:62139938-62139970	XLOC_010406
11	lnc-PCDH20-12	chr13:62204797-62204945	l_861_chr13:62203870-62268824_testes
12	lnc-PCDH20-12	chr13:62204428-62204493	NONHSAT034131

No data

Extended variants
information (count: 1086 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1086 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572815641	chr13:62137635-62137636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373720943	chr13:62137637-62137638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572349482	chr13:62137659-62137660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191240068	chr13:62137725-62137726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142843085	chr13:62137726-62137727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537235425	chr13:62137731-62137732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551835984	chr13:62137751-62137752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570068968	chr13:62137780-62137781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75615808	chr13:62137783-62137784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555686277	chr13:62138006-62138007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147436620	chr13:62138018-62138019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534980053	chr13:62138052-62138053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9598306	chr13:62138089-62138090	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs9598307	chr13:62138153-62138154	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs148446161	chr13:62138232-62138233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182703030	chr13:62138234-62138235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73490668	chr13:62138300-62138301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549941238	chr13:62138303-62138304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9592121	chr13:62138319-62138320	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs542764611	chr13:62138324-62138325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141727068	chr13:62138342-62138343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573122072	chr13:62138343-62138344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187346840	chr13:62138346-62138347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540511160	chr13:62138348-62138349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200507504	chr13:62138398-62138399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565211881	chr13:62138474-62138475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78048110	chr13:62138488-62138489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371305993	chr13:62138519-62138520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112580699	chr13:62138531-62138532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563756909	chr13:62138555-62138556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192249381	chr13:62138637-62138638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549499243	chr13:62138686-62138687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545824432	chr13:62138708-62138709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536074531	chr13:62138759-62138760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116307058	chr13:62138783-62138784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377260770	chr13:62139955-62139956	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs577610826	chr13:62144432-62144433	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs538354037	chr13:62144433-62144434	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs557051308	chr13:62144443-62144444	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs374118584	chr13:62144471-62144472	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs539131198	chr13:62144493-62144494	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs74854135	chr13:62144501-62144502	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs12869427	chr13:62144505-62144506	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs575308331	chr13:62144527-62144528	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs542863801	chr13:62144577-62144578	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs150909393	chr13:62147719-62147720	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs181135117	chr13:62147727-62147728	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs527372777	chr13:62147768-62147769	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs537314192	chr13:62147784-62147785	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs186477625	chr13:62147810-62147811	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
small cell lung cancer	20016488	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
Lung cancer	18438408	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
Esophageal squamous carcinoma	20200074	CNVD
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Bipolar disorder	19214233	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62137600-62138800	Enhancers	Liver	Liver
2	chr13:62137800-62138200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:62137800-62138200	Enhancers	Fetal Lung	lung
4	chr13:62149200-62150800	Enhancers	Liver	Liver
5	chr13:62149800-62150600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:62150000-62150600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:62150200-62150400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:62160400-62162000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:62161000-62161600	Enhancers	Brain Substantia Nigra	brain
10	chr13:62161200-62162000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:62162000-62166200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:62162000-62166600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:62166200-62167200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:62166600-62167000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:62166600-62167000	Enhancers	Adipose Nuclei	Adipose
16	chr13:62166600-62167000	Enhancers	Fetal Intestine Small	intestine
17	chr13:62167200-62172800	Weak transcription	Brain Substantia Nigra	brain
18	chr13:62172800-62173000	Enhancers	Brain Substantia Nigra	brain
19	chr13:62173000-62173800	Weak transcription	Brain Substantia Nigra	brain
20	chr13:62173600-62175200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr13:62173800-62174000	Enhancers	Liver	Liver
22	chr13:62173800-62174000	Active TSS	Brain Substantia Nigra	brain
23	chr13:62173800-62174400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr13:62173800-62175200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:62174000-62174200	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr13:62174000-62174400	Flanking Active TSS	Liver	Liver
27	chr13:62174000-62174400	Enhancers	Brain Angular Gyrus	brain
28	chr13:62174200-62174600	Enhancers	Brain Substantia Nigra	brain
29	chr13:62174400-62174800	Weak transcription	Brain Angular Gyrus	brain
30	chr13:62174400-62174800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr13:62174400-62175800	Enhancers	Liver	Liver
32	chr13:62174600-62175000	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr13:62174600-62175400	Enhancers	Brain Cingulate Gyrus	brain
34	chr13:62174800-62175400	Enhancers	Brain Angular Gyrus	brain
35	chr13:62174800-62175800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr13:62175000-62175800	Enhancers	Brain Substantia Nigra	brain
37	chr13:62175200-62177000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:62175200-62177800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:62177000-62178800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr13:62177800-62179000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:62179000-62182400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:62182000-62182200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr13:62182000-62183000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr13:62182000-62183000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr13:62182200-62182400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr13:62182200-62182400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr13:62182200-62182800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr13:62182200-62183000	Enhancers	H1 Cell Line	embryonic stem cell
49	chr13:62182200-62183000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr13:62182400-62183000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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