Variant report

Variant	nsv437166
Chromosome Location	chr13:67499279-67528573
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:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr13:67509668..67511474-chr13:67514101..67516252,2	K562	blood:
2	chr13:67499121..67501052-chr13:67506413..67508246,2	K562	blood:
3	chr13:67499121..67501052-chr13:67506413..67508246,2	K562	blood:
4	chr13:67503858..67504708-chr5:34924011..34924781,2	Hela-S3	cervix:
5	chr13:67517858..67520029-chr13:67533541..67536022,2	K562	blood:
6	chr13:67497444..67500061-chr13:67515647..67517481,2	K562	blood:
7	chr13:67509668..67511474-chr13:67514101..67516252,2	K562	blood:
8	chr13:67497444..67500061-chr13:67515647..67517481,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL445989.1-14	chr13:67517880-67518119	NONHSAT034214

No data

Extended variants
information (count: 882 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:882 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2068585	chr13:67499279-67499280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs207473950	chr13:67499304-67499305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568344246	chr13:67499423-67499424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199722063	chr13:67499466-67499467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200816361	chr13:67499467-67499468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201360751	chr13:67499468-67499469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs67836217	chr13:67499469-67499470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557159674	chr13:67499472-67499473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576215413	chr13:67499492-67499493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541657420	chr13:67499503-67499504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555707926	chr13:67499543-67499544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572321135	chr13:67499636-67499637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541049305	chr13:67499652-67499653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564035744	chr13:67499701-67499702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188982999	chr13:67499713-67499714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs67151226	chr13:67499752-67499753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374196548	chr13:67499758-67499759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116736662	chr13:67499780-67499781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112264226	chr13:67499811-67499812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529530243	chr13:67499828-67499829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566138472	chr13:67499839-67499840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12428888	chr13:67499856-67499857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs566037387	chr13:67499872-67499873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528735639	chr13:67499881-67499882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549525857	chr13:67499926-67499927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115122358	chr13:67499935-67499936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571343187	chr13:67499984-67499985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537029596	chr13:67500018-67500019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77472462	chr13:67500039-67500040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181043492	chr13:67500059-67500060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535641259	chr13:67500123-67500124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555571547	chr13:67500161-67500162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184977835	chr13:67500191-67500192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144044957	chr13:67500194-67500195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377065304	chr13:67500244-67500245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558059996	chr13:67500262-67500263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577610925	chr13:67500269-67500270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543039358	chr13:67500272-67500273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369047917	chr13:67500279-67500280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2181754	chr13:67500347-67500348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573610309	chr13:67500377-67500378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372878060	chr13:67500429-67500430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13378601	chr13:67500431-67500432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543229672	chr13:67500435-67500436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75540848	chr13:67500448-67500449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528648933	chr13:67500453-67500454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551685893	chr13:67500456-67500457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565235522	chr13:67500489-67500490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189038685	chr13:67500602-67500603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550653418	chr13:67500647-67500648	Enhancers Weak transcription	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:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67490000-67500200	Weak transcription	Primary B cells from cord blood	blood
2	chr13:67490000-67500400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr13:67490200-67500200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:67491000-67500400	Weak transcription	Brain Angular Gyrus	brain
5	chr13:67497000-67500400	Weak transcription	A549	lung
6	chr13:67500000-67501200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr13:67500000-67501400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr13:67500000-67501400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr13:67500200-67500400	Enhancers	Primary B cells from cord blood	blood
10	chr13:67500200-67501000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr13:67500200-67501000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:67500200-67501200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr13:67500200-67501200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr13:67500200-67501400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr13:67500200-67501600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:67500200-67502000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr13:67500200-67502200	Enhancers	HMEC	breast
18	chr13:67500400-67500600	Enhancers	A549	lung
19	chr13:67500400-67500800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr13:67500400-67500800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr13:67500400-67500800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr13:67500400-67501000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:67500400-67501000	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr13:67500400-67501200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr13:67500400-67501200	Enhancers	Brain Angular Gyrus	brain
26	chr13:67500400-67501400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr13:67500400-67501600	Enhancers	Brain Anterior Caudate	brain
28	chr13:67500400-67501600	Enhancers	Brain Cingulate Gyrus	brain
29	chr13:67500400-67501800	Enhancers	HUVEC	blood vessel
30	chr13:67500400-67502000	Enhancers	NHEK	skin
31	chr13:67500400-67502200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr13:67500400-67503800	Weak transcription	Primary B cells from cord blood	blood
33	chr13:67500600-67501000	Enhancers	Brain Substantia Nigra	brain
34	chr13:67500600-67501000	Weak transcription	A549	lung
35	chr13:67500800-67501200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr13:67500800-67502000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:67500800-67502000	Enhancers	Osteobl	bone
38	chr13:67501000-67501200	Enhancers	A549	lung
39	chr13:67501000-67504600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr13:67501000-67504600	Weak transcription	Brain Substantia Nigra	brain
41	chr13:67501200-67501600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr13:67501200-67504200	Weak transcription	Brain Angular Gyrus	brain
43	chr13:67501200-67504600	Weak transcription	A549	lung
44	chr13:67501600-67507600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:67501800-67505000	Weak transcription	HUVEC	blood vessel
46	chr13:67502000-67507400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr13:67502000-67507800	Weak transcription	Osteobl	bone
48	chr13:67502200-67507600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr13:67502200-67507600	Weak transcription	HMEC	breast
50	chr13:67504600-67505200	Enhancers	Brain Substantia Nigra	brain

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