Variant report

Variant	nsv1044494
Chromosome Location	chr13:84705200-84897141
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:6)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:84808023..84809709-chr13:84813729..84816402,2	K562	blood:
2	chr13:84776815..84777795-chr4:187761106..187761969,2	HCT-116	colon:
3	chr13:84836008..84837824-chr13:84838111..84839973,2	MCF-7	breast:
4	chr13:84808023..84809709-chr13:84813729..84816402,2	K562	blood:
5	chr13:84761434..84763483-chr16:83281252..83283046,2	MCF-7	breast:
6	chr13:84836008..84837824-chr13:84838111..84839973,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-12	chr13:84812675-84812735	NONHSAT034549
2	lnc-SLITRK5-33	chr13:84835761-84836231	l_892_chr13:84835760-84884253_testes
3	lnc-SLITRK5-12	chr13:84714737-84714778	NONHSAT034549
4	lnc-SLITRK5-33	chr13:84880741-84880883	l_892_chr13:84835760-84884253_testes
5	lnc-SLITRK5-33	chr13:84835737-84836231	NONHSAT034550
6	lnc-SLITRK5-33	chr13:84883737-84884253	l_892_chr13:84835760-84884253_testes
7	lnc-SLITRK5-12	chr13:84816198-84816232	NONHSAT034549

No data

Extended variants
information (count: 2001 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:2001 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565835743	chr13:84705207-84705208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs202127628	chr13:84705229-84705230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534822009	chr13:84705241-84705242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554656193	chr13:84705242-84705243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568412660	chr13:84705254-84705255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546886680	chr13:84705257-84705258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548665096	chr13:84705288-84705289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17077771	chr13:84705359-84705360	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557178445	chr13:84705398-84705399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7995309	chr13:84705402-84705403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367805697	chr13:84705411-84705412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181252316	chr13:84705444-84705445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187123635	chr13:84705445-84705446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9319023	chr13:84705506-84705507	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs189901708	chr13:84705540-84705541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34342372	chr13:84705561-84705562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557904579	chr13:84705614-84705615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530480570	chr13:84705617-84705618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543874874	chr13:84705660-84705661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375987287	chr13:84705671-84705672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147375148	chr13:84705674-84705675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532742087	chr13:84705681-84705682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139477344	chr13:84705737-84705738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116940423	chr13:84705751-84705752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181699572	chr13:84705761-84705762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373320669	chr13:84705772-84705773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548251320	chr13:84705780-84705781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186489138	chr13:84705812-84705813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144990754	chr13:84705833-84705834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190877903	chr13:84705834-84705835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115764873	chr13:84705868-84705869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147958704	chr13:84705987-84705988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370080584	chr13:84705988-84705989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9531555	chr13:84705999-84706000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs573027200	chr13:84706006-84706007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535667997	chr13:84706008-84706009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536735236	chr13:84706022-84706023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555465853	chr13:84706026-84706027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377729900	chr13:84706041-84706042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575276305	chr13:84706043-84706044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs17357060	chr13:84706052-84706053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572989576	chr13:84706091-84706092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182301904	chr13:84706131-84706132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4131130	chr13:84706152-84706153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545669502	chr13:84706204-84706205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563970598	chr13:84706215-84706216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71440115	chr13:84706233-84706234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577453999	chr13:84706238-84706239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200108490	chr13:84706254-84706255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540196481	chr13:84706302-84706303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	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
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
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Epilepsy	20502679	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	16651412	CNVD

Chromatin state (count:242 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:84701600-84705200	Weak transcription	NHEK	skin
2	chr13:84702800-84705600	Enhancers	Hela-S3	cervix
3	chr13:84704000-84705600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:84704800-84705600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:84705000-84705400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:84705400-84705600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr13:84705600-84710200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr13:84705600-84711000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:84705600-84713000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:84709200-84711000	Enhancers	Dnd41	blood
11	chr13:84709400-84711000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr13:84709800-84710800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr13:84709800-84711200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr13:84709800-84711600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr13:84710000-84710200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr13:84710000-84711000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr13:84710000-84711000	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr13:84710000-84711200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr13:84710000-84711200	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr13:84710200-84710400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr13:84710200-84710400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr13:84710200-84710800	Enhancers	Primary hematopoietic stem cells	blood
23	chr13:84710200-84710800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr13:84710200-84711000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr13:84710200-84711200	Enhancers	Primary T cells fromperipheralblood	blood
26	chr13:84710200-84711400	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr13:84710400-84710800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr13:84710400-84711000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr13:84710400-84711400	Enhancers	Primary T cells from cord blood	blood
30	chr13:84710600-84711800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr13:84710800-84711000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr13:84710800-84711000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr13:84710800-84711200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr13:84710800-84711400	Enhancers	Primary B cells from cord blood	blood
35	chr13:84710800-84711600	Enhancers	Primary B cells from peripheral blood	blood
36	chr13:84710800-84711800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr13:84710800-84712000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr13:84710800-84712000	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr13:84710800-84712000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr13:84710800-84712200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr13:84711000-84711200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr13:84711000-84711400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr13:84711000-84711400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr13:84711000-84711600	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr13:84711000-84711600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr13:84711000-84711600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr13:84711000-84711600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr13:84711000-84711600	Flanking Active TSS	Dnd41	blood
49	chr13:84711000-84711800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr13:84711000-84711800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links