Variant report

Variant	esv2830241
Chromosome Location	chr13:85455806-85489071
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:2)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:85470303..85470949-chr13:86390125..86391063,2	MCF-7	breast:
2	chr13:85469965..85470532-chr13:86380369..86380911,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK6-6	chr13:85458187-85458377	XLOC_010676
2	lnc-SLITRK6-5	chr13:85470379-85470499	XLOC_010677
3	lnc-SLITRK6-5	chr13:85476481-85476607	XLOC_010677
4	lnc-SLITRK6-6	chr13:85456665-85456865	XLOC_010676
5	lnc-SLITRK6-6	chr13:85466329-85466453	XLOC_010676
6	lnc-SLITRK6-6	chr13:85458187-85458427	XLOC_010676

No data

Extended variants
information (count: 85 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540901898	chr13:85456673-85456674	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs571736346	chr13:85456677-85456678	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs565593846	chr13:85456689-85456690	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs539185960	chr13:85456709-85456710	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs532916485	chr13:85456711-85456712	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs200683428	chr13:85456764-85456765	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs545069678	chr13:85456816-85456817	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs75624924	chr13:85456851-85456852	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs530553465	chr13:85456859-85456860	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs139886089	chr13:85456860-85456861	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs9319093	chr13:85456864-85456865	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs528283680	chr13:85456865-85456866	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs74101414	chr13:85458217-85458218	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs147719141	chr13:85458286-85458287	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs369692580	chr13:85458305-85458306	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs142438820	chr13:85458325-85458326	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs56701745	chr13:85458361-85458362	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs575122363	chr13:85458368-85458369	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs34850242	chr13:85458403-85458404	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs560471779	chr13:85462206-85462207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs71806403	chr13:85462215-85462216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563997929	chr13:85462219-85462220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531142899	chr13:85462227-85462228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9602566	chr13:85462233-85462234	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs374774305	chr13:85462238-85462239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9602567	chr13:85462265-85462266	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs184736772	chr13:85462267-85462268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547475596	chr13:85462268-85462269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565785039	chr13:85462286-85462287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531353298	chr13:85462321-85462322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74680411	chr13:85462343-85462344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551329325	chr13:85462371-85462372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569919766	chr13:85462378-85462379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536975700	chr13:85462418-85462419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9602568	chr13:85462442-85462443	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs567279585	chr13:85462482-85462483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143869559	chr13:85462493-85462494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9602569	chr13:85462496-85462497	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs148598308	chr13:85462562-85462563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17078733	chr13:85462592-85462593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543439321	chr13:85466329-85466330	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs568462891	chr13:85466385-85466386	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs559722734	chr13:85466431-85466432	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs545046148	chr13:85470418-85470419	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs556639414	chr13:85470436-85470437	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs575091559	chr13:85470438-85470439	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs78508967	chr13:85470484-85470485	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs569487787	chr13:85476510-85476511	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs78338624	chr13:85476815-85476816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547154177	chr13:85476818-85476819	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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	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	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85462200-85462600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:85476800-85477600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:85477000-85477400	Enhancers	Fetal Heart	heart

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