Variant report

Variant	nsv900495
Chromosome Location	chr13:70612412-70658404
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:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr13:70622215..70623950-chr13:70628804..70630682,2	K562	blood:
2	chr13:70627953..70628454-chr2:26525116..26525616,2	Hela-S3	cervix:
3	chr13:70622215..70623950-chr13:70628804..70630682,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BORA-23	chr13:70615319-70615369	NONHSAT034249
2	lnc-BORA-23	chr13:70639819-70640550	NONHSAT034249
3	lnc-BORA-23	chr13:70639503-70639559	NONHSAT034249

No data

Extended variants
information (count: 534 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:534 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142774363	chr13:70616400-70616401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368688223	chr13:70616417-70616418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148965564	chr13:70616427-70616428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554512541	chr13:70616476-70616477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545135387	chr13:70616669-70616670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574575538	chr13:70616671-70616672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540095125	chr13:70616716-70616717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369097139	chr13:70616717-70616718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553663474	chr13:70616748-70616749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576410491	chr13:70616790-70616791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545429839	chr13:70616796-70616797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562596777	chr13:70616846-70616847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531355135	chr13:70616855-70616856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541912834	chr13:70616904-70616905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561284083	chr13:70616935-70616936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111749350	chr13:70616939-70616940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76875650	chr13:70616962-70616963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183777352	chr13:70616976-70616977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142862185	chr13:70617013-70617014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79303832	chr13:70617038-70617039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201964935	chr13:70617064-70617065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200306786	chr13:70617068-70617069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151097000	chr13:70617097-70617098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557996542	chr13:70617161-70617162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113460319	chr13:70617194-70617195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537903857	chr13:70617203-70617204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555052179	chr13:70617223-70617224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142553856	chr13:70617257-70617258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188784970	chr13:70617264-70617265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146684288	chr13:70617279-70617280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371122104	chr13:70617284-70617285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190591596	chr13:70617307-70617308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549729914	chr13:70617336-70617337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139352929	chr13:70617346-70617347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139407571	chr13:70617371-70617372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539046198	chr13:70617378-70617379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535392638	chr13:70617381-70617382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555839439	chr13:70617393-70617394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187183064	chr13:70617618-70617619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560758039	chr13:70617632-70617633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532903222	chr13:70617633-70617634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191639952	chr13:70617637-70617638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184536643	chr13:70617649-70617650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547368339	chr13:70617733-70617734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565673509	chr13:70617741-70617742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531745381	chr13:70617749-70617750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539477499	chr13:70617750-70617751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548363160	chr13:70617764-70617765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187508028	chr13:70617771-70617772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377448940	chr13:70617812-70617813	Enhancers	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
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
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:70616400-70617200	Enhancers	Fetal Intestine Small	intestine
2	chr13:70617000-70617400	Enhancers	Fetal Intestine Large	intestine
3	chr13:70617600-70618200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:70618200-70620800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:70620800-70621600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:70622800-70623200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr13:70623000-70623600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr13:70624800-70625400	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr13:70639200-70639600	Enhancers	Fetal Brain Female	brain
10	chr13:70652600-70655600	Enhancers	Fetal Heart	heart
11	chr13:70653800-70654400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr13:70653800-70654400	Enhancers	Fetal Brain Female	brain
13	chr13:70654000-70654600	Enhancers	Fetal Brain Male	brain
14	chr13:70654600-70656400	Weak transcription	Fetal Brain Male	brain
15	chr13:70655600-70661000	Weak transcription	Fetal Heart	heart
16	chr13:70656400-70656600	Enhancers	Fetal Brain Male	brain
17	chr13:70658200-70658600	Active TSS	HepG2	liver
18	chr13:70658400-70659000	Active TSS	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links