Variant report

Variant	nsv562138
Chromosome Location	chr13:67455787-67511430
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:9)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:67503858..67504708-chr5:34924011..34924781,2	Hela-S3	cervix:
2	chr13:67483833..67485636-chr13:67488451..67490558,2	MCF-7	breast:
3	chr13:67455570..67458044-chr13:67459396..67461929,2	MCF-7	breast:
4	chr13:67497444..67500061-chr13:67515647..67517481,2	K562	blood:
5	chr13:67455570..67458044-chr13:67459396..67461929,2	MCF-7	breast:
6	chr13:67509668..67511474-chr13:67514101..67516252,2	K562	blood:
7	chr13:67499121..67501052-chr13:67506413..67508246,2	K562	blood:
8	chr13:67483833..67485636-chr13:67488451..67490558,2	MCF-7	breast:
9	chr13:67499121..67501052-chr13:67506413..67508246,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL445989.1-14	chr13:67489069-67489163	ENSG00000228842.1
2	lnc-AL445989.1-14	chr13:67488530-67488618	ENSG00000228842.1
3	lnc-AL445989.1-14	chr13:67484006-67484154	NONHSAT034214
4	lnc-AL445989.1-14	chr13:67460132-67460208	ENSG00000228842.2
5	lnc-AL445989.1-14	chr13:67460132-67460209	ENSG00000228842.1
6	lnc-AL445989.1-14	chr13:67489069-67489163	ENSG00000228842.2
7	lnc-AL445989.1-14	chr13:67488530-67488618	NONHSAT034214
8	lnc-AL445989.1-14	chr13:67488530-67488618	ENSG00000228842.2

No data

Extended variants
information (count: 1951 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1951 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9571682	chr13:67455787-67455788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369284525	chr13:67455821-67455822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146690111	chr13:67455836-67455837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557504980	chr13:67455898-67455899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577533226	chr13:67455908-67455909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543566676	chr13:67455923-67455924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555377090	chr13:67455949-67455950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116086347	chr13:67455959-67455960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371051126	chr13:67455994-67455995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573767779	chr13:67456008-67456009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573537529	chr13:67456027-67456028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs80314610	chr13:67456032-67456033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559962942	chr13:67456121-67456122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377432242	chr13:67456175-67456176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74093649	chr13:67456201-67456202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139229264	chr13:67456206-67456207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552016282	chr13:67456207-67456208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565155923	chr13:67456220-67456221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534401042	chr13:67456249-67456250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9571683	chr13:67456259-67456260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188239689	chr13:67456343-67456344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149930550	chr13:67456383-67456384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577774038	chr13:67456479-67456480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567461989	chr13:67456610-67456611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144418234	chr13:67456612-67456613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530131276	chr13:67456647-67456648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545224717	chr13:67456657-67456658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112650700	chr13:67456665-67456666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77130182	chr13:67456732-67456733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554045511	chr13:67456734-67456735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553373062	chr13:67456766-67456767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577560021	chr13:67456777-67456778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115966305	chr13:67456816-67456817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571160660	chr13:67456847-67456848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537081872	chr13:67456887-67456888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs367636280	chr13:67456950-67456951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192254638	chr13:67456993-67456994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575624353	chr13:67456999-67457000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573806568	chr13:67457016-67457017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565114944	chr13:67457065-67457066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149165340	chr13:67457168-67457169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182511758	chr13:67457181-67457182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553305597	chr13:67457235-67457236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573356658	chr13:67457293-67457294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545379730	chr13:67457300-67457301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145030575	chr13:67457308-67457309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531102253	chr13:67457356-67457357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544245761	chr13:67457368-67457369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187211211	chr13:67457396-67457397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112079300	chr13:67457452-67457453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Schizophrenia	23813976	CNVD
Prostate cancer	22341455	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67450200-67456000	Weak transcription	Brain Hippocampus Middle	brain
2	chr13:67452800-67460000	Weak transcription	Primary B cells from cord blood	blood
3	chr13:67454600-67459200	Weak transcription	Brain Angular Gyrus	brain
4	chr13:67454600-67459200	Weak transcription	Brain Anterior Caudate	brain
5	chr13:67454600-67459200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr13:67454600-67459800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr13:67455000-67456000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:67455000-67459000	Weak transcription	Brain Substantia Nigra	brain
9	chr13:67455200-67459200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr13:67456000-67457000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr13:67456000-67457800	Enhancers	Brain Hippocampus Middle	brain
12	chr13:67456200-67460000	Weak transcription	Fetal Brain Male	brain
13	chr13:67457000-67459600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:67457800-67459200	Weak transcription	Brain Hippocampus Middle	brain
15	chr13:67459000-67460800	Enhancers	Brain Substantia Nigra	brain
16	chr13:67459200-67459400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr13:67459200-67460200	Enhancers	Brain Anterior Caudate	brain
18	chr13:67459200-67460200	Enhancers	Brain Cingulate Gyrus	brain
19	chr13:67459200-67460400	Enhancers	Brain Angular Gyrus	brain
20	chr13:67459200-67460400	Enhancers	Brain Hippocampus Middle	brain
21	chr13:67459200-67460600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr13:67459400-67459800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr13:67459600-67461800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr13:67459800-67460200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr13:67459800-67460800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr13:67459800-67461800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr13:67459800-67463000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr13:67460000-67460400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr13:67460000-67460400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr13:67460000-67460600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr13:67460000-67460600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr13:67460000-67460600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr13:67460000-67460600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr13:67460000-67461400	Enhancers	Primary B cells from cord blood	blood
35	chr13:67460000-67461800	Enhancers	Fetal Brain Male	brain
36	chr13:67460000-67463200	Enhancers	Primary B cells from peripheral blood	blood
37	chr13:67460200-67460400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:67460200-67460400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr13:67460200-67460600	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr13:67460200-67460600	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr13:67460200-67460600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr13:67460200-67460600	Enhancers	Fetal Kidney	kidney
43	chr13:67460200-67460800	Enhancers	H9 Cell Line	embryonic stem cell
44	chr13:67460200-67460800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr13:67460200-67461000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr13:67460200-67461800	Enhancers	Fetal Brain Female	brain
47	chr13:67460400-67460600	Flanking Active TSS	Brain Angular Gyrus	brain
48	chr13:67460400-67460600	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr13:67460400-67460800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr13:67460400-67460800	Enhancers	Brain Germinal Matrix	brain

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