Variant report

Variant	esv3365362
Chromosome Location	chr13:64412101-64414799
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr13:64414266-64414409	HepG2	liver:	n/a	n/a
2	SP1	chr13:64414150-64414428	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:64412172-64412222	RPTEC	kidney:	n/a
2	chr13:64412172-64412222	HRE	kidney:	n/a
3	chr13:64412172-64412222	BE2_C	brain:	n/a
4	chr13:64412172-64412222	ECC-1	luminal epithelium:	n/a
5	chr13:64412172-64412222	HEK293	kidney:	embryo
6	chr13:64412172-64412222	NT2-D1	testis:	n/a
7	chr13:64412172-64412222	SKMC	muscle:	n/a
8	chr13:64412172-64412222	GM12891	blood:	n/a
9	chr13:64412172-64412222	PFSK-1	brain:	n/a
10	chr13:64412172-64412222	SK-N-MC	brain:	n/a
11	chr13:64412172-64412222	HCT-116	colon:	n/a
12	chr13:64412172-64412222	ProgFib	skin:	n/a
13	chr13:64412172-64412222	AG09319	gingival:	n/a
14	chr13:64412172-64412222	SK-N-SH_RA	brain:	n/a
15	chr13:64412172-64412222	Hepatocyte	liver:	n/a
16	chr13:64412172-64412222	MCF10A-Er-Src	breast:	n/a
17	chr13:64412172-64412222	IMR90	lung:	fetal
18	chr13:64412172-64412222	HIPEpiC	eye:	n/a
19	chr13:64412172-64412222	SK-N-SH	brain:	n/a
20	chr13:64412172-64412222	NHBE	bronchial:	n/a
21	chr13:64412172-64412222	SAEC	small airway:	n/a
22	chr13:64412172-64412222	K562	blood:	n/a
23	chr13:64412172-64412222	Caco-2	colon:	n/a
24	chr13:64412172-64412222	GM12878	blood:	n/a
25	chr13:64412172-64412222	NHDF-neo	bronchial:	n/a
26	chr13:64412172-64412222	AoSMC	blood vessel:	n/a
27	chr13:64412172-64412222	PANC-1	pancreas:	n/a
28	chr13:64412172-64412222	HCPEpiC	choroid plexus:	n/a
29	chr13:64412172-64412222	HMEC	breast:	n/a
30	chr13:64412172-64412222	HPAEpiC	pulmonary alveolar:	n/a
31	chr13:64412172-64412222	CMK	blood:	n/a
32	chr13:64412172-64412222	LNCaP	prostate:	n/a
33	chr13:64412172-64412222	Hela-S3	cervix:	n/a
34	chr13:64412172-64412222	MCF-7	breast:	n/a
35	chr13:64412172-64412222	NH-A	brain:	n/a
36	chr13:64412172-64412222	HRCEpiC	kidney:	n/a
37	chr13:64412172-64412222	T-47D	breast:	n/a
38	chr13:64412172-64412222	HCM	heart:	n/a
39	chr13:64412172-64412222	HCF	heart:	n/a
40	chr13:64412172-64412222	AG09309	skin:	n/a
41	chr13:64412172-64412222	U87	brain:	n/a
42	chr13:64412172-64412222	HUVEC	blood vessel:	n/a
43	chr13:64412172-64412222	GM19239	blood:	n/a
44	chr13:64412172-64412222	HRPEpiC	eye:	n/a
45	chr13:64412172-64412222	A549	lung:	n/a
46	chr13:64412172-64412222	Jurkat	blood:	n/a
47	chr13:64412172-64412222	BJ	skin:	n/a
48	chr13:64412172-64412222	HEEpiC	esophagus:	n/a
49	chr13:64412172-64412222	GM06990	blood:	n/a
50	chr13:64412172-64412222	HNPCEpiC	eye:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-10	chr13:64413882-64414219	NONHSAT034181
2	lnc-PCDH20-10	chr13:64413203-64413330	NONHSAT034187
3	lnc-PCDH20-10	chr13:64412250-64412371	NONHSAT034187
4	lnc-PCDH20-10	chr13:64412293-64412877	NONHSAT034185

No data

Variant related genes	Relation type
ENSG00000272299	TF binding region
ENSG00000272299	CpG island

Extended variants
information (count: 173 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111379364	chr13:64412172-64412173	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs529786519	chr13:64412178-64412179	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs547938042	chr13:64412184-64412185	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs567869257	chr13:64412188-64412189	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs534854537	chr13:64412204-64412205	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs553284702	chr13:64412208-64412209	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs571585387	chr13:64412210-64412211	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs538692421	chr13:64412213-64412214	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs557312854	chr13:64412215-64412216	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs575506448	chr13:64412219-64412220	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs554740905	chr13:64412264-64412265	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs150275287	chr13:64412268-64412269	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs575222025	chr13:64412275-64412276	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs138929652	chr13:64412278-64412279	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs557315882	chr13:64412282-64412283	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs577207700	chr13:64412302-64412303	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs1809674	chr13:64412304-64412305	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs562514638	chr13:64412305-64412306	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs529629798	chr13:64412324-64412325	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs185516952	chr13:64412327-64412328	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs1809673	chr13:64412329-64412330	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs528688536	chr13:64412330-64412331	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs546784505	chr13:64412331-64412332	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs112909214	chr13:64412332-64412333	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs189981402	chr13:64412350-64412351	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs538954012	chr13:64412352-64412353	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs140666416	chr13:64412367-64412368	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs145754331	chr13:64412368-64412369	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs369205367	chr13:64412371-64412372	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs182970243	chr13:64412373-64412374	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs573355593	chr13:64412402-64412403	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs534027565	chr13:64412403-64412404	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs1809672	chr13:64412430-64412431	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs375771916	chr13:64412446-64412447	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs577071460	chr13:64412470-64412471	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs544522016	chr13:64412479-64412480	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs562605962	chr13:64412482-64412483	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs370107974	chr13:64412490-64412491	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs574407602	chr13:64412492-64412493	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs199512296	chr13:64412497-64412498	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs541438092	chr13:64412544-64412545	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs1809671	chr13:64412546-64412547	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs527374028	chr13:64412554-64412555	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs373828572	chr13:64412561-64412562	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs188501797	chr13:64412574-64412575	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs376873989	chr13:64412577-64412578	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs111860036	chr13:64412591-64412592	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs551274565	chr13:64412602-64412603	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs115643325	chr13:64412623-64412624	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs536679922	chr13:64412626-64412627	Inactive region	lncRNA	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
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
Multiple myeloma	17550852	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	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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