Variant report

Variant	nsv438256
Chromosome Location	chr13:80479404-80503110
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:16)
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	chr13:80482149..80484402-chr13:80916416..80919273,2	K562	blood:

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDFIP2-7	chr13:80491707-80492171	NONHSAT034500
2	lnc-NDFIP2-7	chr13:80488851-80488995	NONHSAT034500
3	lnc-NDFIP2-6	chr13:80488851-80488995	XLOC_010450
4	lnc-NDFIP2-7	chr13:80486530-80486637	NONHSAT034500
5	lnc-NDFIP2-6	chr13:80488851-80489057	XLOC_010450
6	lnc-NDFIP2-7	chr13:80482947-80483010	NONHSAT034499
7	lnc-NDFIP2-6	chr13:80482947-80483010	XLOC_010450
8	lnc-NDFIP2-6	chr13:80486530-80486637	XLOC_010450
9	lnc-NDFIP2-6	chr13:80482947-80483010	XLOC_010450
10	lnc-NDFIP2-6	chr13:80490669-80490757	XLOC_010450
11	lnc-NDFIP2-7	chr13:80488851-80488995	NONHSAT034499
12	lnc-NDFIP2-7	chr13:80490669-80490757	NONHSAT034499
13	lnc-NDFIP2-7	chr13:80491707-80492171	NONHSAT034499
14	lnc-NDFIP2-7	chr13:80486530-80486637	NONHSAT034499
15	lnc-NDFIP2-6	chr13:80486530-80486637	XLOC_010450
16	lnc-NDFIP2-6	chr13:80491707-80492170	XLOC_010450

No data

Variant related genes	Relation type
KHSRP	miRNA target sites
PRKAR2B	miRNA target sites

Extended variants
information (count: 844 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:844 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9593420	chr13:80479404-80479405	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563787872	chr13:80479478-80479479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75910762	chr13:80479530-80479531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187649592	chr13:80479542-80479543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571421954	chr13:80479551-80479552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533986558	chr13:80479578-80479579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573365463	chr13:80479676-80479677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189503187	chr13:80479677-80479678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138848375	chr13:80479689-80479690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536232031	chr13:80479753-80479754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181774276	chr13:80479785-80479786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540320342	chr13:80479792-80479793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576000755	chr13:80479812-80479813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538325283	chr13:80479826-80479827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564871790	chr13:80479853-80479854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186153196	chr13:80479866-80479867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572298441	chr13:80479885-80479886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541275804	chr13:80479932-80479933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561659785	chr13:80479934-80479935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190572910	chr13:80479954-80479955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544112086	chr13:80480002-80480003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371413558	chr13:80480011-80480012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563507029	chr13:80480070-80480071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562170247	chr13:80480072-80480073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182772187	chr13:80480240-80480241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559926036	chr13:80480285-80480286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186333081	chr13:80480317-80480318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191179549	chr13:80480381-80480382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529905528	chr13:80480454-80480455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541770636	chr13:80480499-80480500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141769211	chr13:80480557-80480558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536118883	chr13:80480569-80480570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150778797	chr13:80480581-80480582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550068454	chr13:80480613-80480614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182604279	chr13:80480617-80480618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187676724	chr13:80480643-80480644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192581033	chr13:80480675-80480676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183129347	chr13:80480685-80480686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571840452	chr13:80480686-80480687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534875972	chr13:80480709-80480710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527538434	chr13:80480757-80480758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145028180	chr13:80480767-80480768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554709279	chr13:80480834-80480835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187495196	chr13:80480855-80480856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139139485	chr13:80480935-80480936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543711334	chr13:80480943-80480944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564020185	chr13:80480974-80480975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577158064	chr13:80481022-80481023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114236954	chr13:80481034-80481035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369377256	chr13:80481049-80481050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
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	21098271	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Breast cancer	21364760	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Schizophrenia	19197363	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80476000-80484800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:80479000-80479800	Enhancers	Brain Anterior Caudate	brain
3	chr13:80479000-80479800	Enhancers	Brain Cingulate Gyrus	brain
4	chr13:80479000-80480200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:80479000-80480200	Enhancers	Brain Hippocampus Middle	brain
6	chr13:80479000-80480200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr13:80479000-80480200	Enhancers	Brain Substantia Nigra	brain
8	chr13:80479200-80480000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr13:80479400-80479600	Enhancers	Fetal Brain Female	brain
10	chr13:80479400-80479800	Enhancers	Brain Angular Gyrus	brain
11	chr13:80479400-80480200	Weak transcription	Fetal Brain Male	brain
12	chr13:80479600-80480400	Weak transcription	Fetal Brain Female	brain
13	chr13:80479800-80484800	Weak transcription	Brain Anterior Caudate	brain
14	chr13:80479800-80485000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr13:80479800-80489000	Weak transcription	Brain Angular Gyrus	brain
16	chr13:80480000-80484200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr13:80480200-80481600	Enhancers	Fetal Brain Male	brain
18	chr13:80480200-80485000	Weak transcription	Brain Substantia Nigra	brain
19	chr13:80480400-80480600	Enhancers	Fetal Brain Female	brain
20	chr13:80480600-80484400	Weak transcription	Fetal Brain Female	brain
21	chr13:80481600-80482000	Weak transcription	Fetal Brain Male	brain
22	chr13:80482000-80482600	Enhancers	Fetal Brain Male	brain
23	chr13:80482200-80485400	Enhancers	Fetal Lung	lung
24	chr13:80482400-80482800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr13:80482400-80483200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr13:80482400-80484400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr13:80482600-80484200	Weak transcription	Fetal Brain Male	brain
28	chr13:80482800-80484400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr13:80483000-80483200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr13:80483400-80488800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr13:80483800-80485200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr13:80484200-80485600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr13:80484200-80486000	Enhancers	Fetal Brain Male	brain
34	chr13:80484400-80484600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr13:80484400-80484600	Enhancers	Psoas Muscle	Psoas
36	chr13:80484400-80485200	Enhancers	Fetal Brain Female	brain
37	chr13:80484400-80485600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr13:80484400-80485800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr13:80484400-80492200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr13:80484600-80485200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr13:80484600-80485200	Weak transcription	Psoas Muscle	Psoas
42	chr13:80484800-80485400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr13:80484800-80485400	Enhancers	Brain Anterior Caudate	brain
44	chr13:80484800-80485400	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr13:80484800-80485800	Enhancers	Fetal Heart	heart
46	chr13:80485000-80485200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr13:80485000-80485200	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr13:80485000-80485400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr13:80485000-80485400	Enhancers	Aorta	Aorta
50	chr13:80485000-80485400	Enhancers	NHEK	skin

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