Variant report

Variant	nsv976249
Chromosome Location	chr13:79888890-79898094
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:79887279..79889348-chr13:79896900..79898498,2	K562	blood:
2	chr13:79883982..79885826-chr13:79892440..79894052,2	K562	blood:
3	chr13:79887290..79888796-chr13:79894827..79897336,2	MCF-7	breast:
4	chr13:79887279..79889348-chr13:79896900..79898498,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNF219-3	chr13:79890355-79891631	ENSG00000250925
2	lnc-NDFIP2-13	chr13:79888706-79889133	NONHSAT034471

No data

Variant related genes	Relation type
RAB2A	miRNA target sites

Extended variants
information (count: 290 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537754750	chr13:79888902-79888903	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs552620760	chr13:79888914-79888915	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs566357084	chr13:79888985-79888986	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs534945003	chr13:79889031-79889032	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs555158863	chr13:79889057-79889058	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs555452420	chr13:79889118-79889119	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs536327469	chr13:79889132-79889133	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs556212817	chr13:79889155-79889156	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183288256	chr13:79889165-79889166	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573840488	chr13:79889181-79889182	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544967265	chr13:79889189-79889190	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370320479	chr13:79889192-79889193	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558625869	chr13:79889204-79889205	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111387419	chr13:79889219-79889220	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572296157	chr13:79889248-79889249	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1410332	chr13:79889306-79889307	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs552978171	chr13:79889309-79889310	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1410331	chr13:79889326-79889327	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs149031882	chr13:79889356-79889357	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543544568	chr13:79889376-79889377	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563777762	chr13:79889392-79889393	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79931327	chr13:79889652-79889653	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145882722	chr13:79889719-79889720	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566250908	chr13:79889779-79889780	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528738315	chr13:79889844-79889845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548823843	chr13:79889878-79889879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568638226	chr13:79889910-79889911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537629205	chr13:79889914-79889915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138698343	chr13:79889943-79889944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1328044	chr13:79889967-79889968	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs538296773	chr13:79889990-79889991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370880686	chr13:79890055-79890056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572270928	chr13:79890064-79890065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540891510	chr13:79890119-79890120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554427297	chr13:79890121-79890122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574319959	chr13:79890171-79890172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543207600	chr13:79890211-79890212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563669718	chr13:79890223-79890224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370771043	chr13:79890256-79890257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532596145	chr13:79890264-79890265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545878501	chr13:79890294-79890295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559673550	chr13:79890304-79890305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71834455	chr13:79890328-79890329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs398037680	chr13:79890329-79890330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3064578	chr13:79890365-79890366	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs535220178	chr13:79890366-79890367	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs374759947	chr13:79890407-79890408	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs142561927	chr13:79890438-79890439	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs146704269	chr13:79890445-79890446	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs531176377	chr13:79890468-79890469	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Prostate cancer	22341455	CNVD

Chromatin state (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79865000-79893200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr13:79881800-79892800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr13:79882000-79894000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr13:79882200-79890600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr13:79882200-79891800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr13:79882200-79892800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:79882200-79893600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr13:79882200-79894400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr13:79882200-79894400	Weak transcription	Brain Angular Gyrus	brain
10	chr13:79882200-79895600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr13:79882200-79899200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr13:79882200-79907400	Weak transcription	Fetal Muscle Leg	muscle
13	chr13:79882200-79907600	Weak transcription	Brain Anterior Caudate	brain
14	chr13:79882200-79909800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr13:79882400-79890800	Weak transcription	HMEC	breast
16	chr13:79882400-79891200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr13:79882400-79891800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr13:79882400-79891800	Weak transcription	Adipose Nuclei	Adipose
19	chr13:79882400-79892000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr13:79882400-79892800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr13:79882400-79893200	Weak transcription	HepG2	liver
22	chr13:79882400-79894400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr13:79882400-79894400	Weak transcription	Osteobl	bone
24	chr13:79882400-79904400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr13:79882400-79905000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr13:79882400-79911200	Weak transcription	Left Ventricle	heart
27	chr13:79882400-79911200	Weak transcription	Ovary	ovary
28	chr13:79882400-79914400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr13:79882400-79925000	Weak transcription	HSMMtube	muscle
30	chr13:79882600-79891200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr13:79882600-79894400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr13:79883800-79891600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr13:79884000-79899400	Weak transcription	Psoas Muscle	Psoas
34	chr13:79884000-79905200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr13:79884200-79892800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr13:79884400-79909000	Weak transcription	Brain Hippocampus Middle	brain
37	chr13:79884800-79893600	Weak transcription	NH-A	brain
38	chr13:79884800-79895600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr13:79885000-79889600	Weak transcription	NHDF-Ad	bronchial
40	chr13:79885000-79891800	Weak transcription	Fetal Intestine Large	intestine
41	chr13:79885000-79892200	Weak transcription	Fetal Thymus	thymus
42	chr13:79885400-79892000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr13:79885800-79889200	Weak transcription	Liver	Liver
44	chr13:79885800-79891800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr13:79886000-79889200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr13:79886400-79890000	Weak transcription	Primary T cells from cord blood	blood
47	chr13:79886400-79891600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr13:79886400-79892800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr13:79886400-79893000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr13:79886400-79893200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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