Variant report

Variant	nsv1042921
Chromosome Location	chr13:64321869-64405310
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:153)
CpG islands
(count:427)
Chromatin interactive
region (count:0)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:153 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr13:64385983-64386021	K562	blood:	n/a	n/a
2	CTCF	chr13:64403850-64403990	HepG2	liver:	n/a	n/a
3	CTCF	chr13:64388076-64388141	Fibrobl	skin:	n/a	n/a
4	CTCF	chr13:64324052-64324317	LNCaP	prostate:	n/a	n/a
5	CTCF	chr13:64403844-64403981	MCF-7	breast:	n/a	n/a
6	CTCF	chr13:64403895-64403950	GM19238	blood:	n/a	n/a
7	CTCF	chr13:64324173-64324251	GM12878	blood:	n/a	n/a
8	CTCF	chr13:64330862-64330927	Medullo	brain:	n/a	n/a
9	CTCF	chr13:64388087-64388090	MCF-7	breast:	n/a	n/a
10	CTCF	chr13:64403872-64403970	ProgFib	skin:	n/a	n/a
11	CTCF	chr13:64403886-64403996	GM10266	blood:	n/a	n/a
12	CTCF	chr13:64324119-64324214	GM10248	blood:	n/a	n/a
13	CTCF	chr13:64324133-64324259	MCF-7	breast:	n/a	n/a
14	CTCF	chr13:64324117-64324248	GM10266	blood:	n/a	n/a
15	CTCF	chr13:64338485-64338489	ProgFib	skin:	n/a	n/a
16	CTCF	chr13:64403800-64404103	LNCaP	prostate:	n/a	n/a
17	CTCF	chr13:64356700-64356850	HepG2	liver:	n/a	n/a
18	CTCF	chr13:64324028-64324296	A549	lung:	n/a	n/a
19	CTCF	chr13:64403823-64404050	MCF-7	breast:	n/a	n/a
20	CTCF	chr13:64324094-64324161	K562	blood:	n/a	n/a
21	CTCF	chr13:64403907-64403977	K562	blood:	n/a	n/a
22	CTCF	chr13:64338203-64338280	GM13976	blood:	n/a	n/a
23	CTCF	chr13:64324080-64324269	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr13:64324042-64324308	LNCaP	prostate:	n/a	n/a
25	CTCF	chr13:64403903-64404008	GM10248	blood:	n/a	n/a
26	CTCF	chr13:64403849-64403978	MCF-7	breast:	n/a	n/a
27	CTCF	chr13:64324092-64324260	MCF-7	breast:	n/a	n/a
28	CTCF	chr13:64324024-64324308	K562	blood:	n/a	n/a
29	CTCF	chr13:64403878-64404005	Pancreas_OC	pancreas:	n/a	n/a
30	CTCF	chr13:64324030-64324275	Gliobla	brain:	n/a	n/a
31	CTCF	chr13:64388066-64388097	MCF-7	breast:	n/a	n/a
32	CTCF	chr13:64403852-64404060	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr13:64403826-64404065	LNCaP	prostate:	n/a	n/a
34	CTCF	chr13:64324197-64324224	GM19240	blood:	n/a	n/a
35	CTCF	chr13:64324079-64324211	Pancreas_OC	pancreas:	n/a	n/a
36	CTCF	chr13:64403790-64404080	Gliobla	brain:	n/a	n/a
37	CTCF	chr13:64324108-64324265	MCF-7	breast:	n/a	n/a
38	CTCF	chr13:64403833-64404058	Medullo	brain:	n/a	n/a
39	CTCF	chr13:64403767-64404058	A549	lung:	n/a	n/a
40	CTCF	chr13:64324118-64324236	GM13977	blood:	n/a	n/a
41	CTCF	chr13:64338496-64338540	ProgFib	skin:	n/a	n/a
42	CTCF	chr13:64324146-64324249	GM19238	blood:	n/a	n/a
43	CTCF	chr13:64343244-64343298	GM13976	blood:	n/a	n/a
44	CTCF	chr13:64401620-64401694	LNCaP	prostate:	n/a	n/a
45	CTCF	chr13:64403897-64403955	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr13:64324183-64324225	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr13:64403881-64404014	GM13976	blood:	n/a	n/a
48	CTCF	chr13:64362185-64362247	Kidney_OC	kidney:	n/a	n/a
49	CTCF	chr13:64330314-64330384	Kidney_OC	kidney:	n/a	n/a
50	CTCF	chr13:64324047-64324270	Medullo	brain:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:64386291-64386341	NH-A	brain:	n/a
2	chr13:64385720-64385770	NHBE	bronchial:	n/a
3	chr13:64382075-64382125	SK-N-SH	brain:	n/a
4	chr13:64384119-64384169	RPTEC	kidney:	n/a
5	chr13:64386291-64386341	PrEC	prostate:	n/a
6	chr13:64382075-64382125	AG10803	skin:	n/a
7	chr13:64385720-64385770	GM19239	blood:	n/a
8	chr13:64385720-64385770	GM06990	blood:	n/a
9	chr13:64384119-64384169	NHDF-neo	bronchial:	n/a
10	chr13:64385720-64385770	AG04449	skin:	fetal
11	chr13:64386020-64386070	GM06990	blood:	n/a
12	chr13:64386020-64386070	T-47D	breast:	n/a
13	chr13:64382075-64382125	BE2_C	brain:	n/a
14	chr13:64385720-64385770	ovcar-3	ovarian:	n/a
15	chr13:64388106-64388156	SK-N-SH	brain:	n/a
16	chr13:64385881-64385931	AG04449	skin:	fetal
17	chr13:64386020-64386070	LNCaP	prostate:	n/a
18	chr13:64386020-64386070	HAEpiC	amniotic membrane:	n/a
19	chr13:64385881-64385931	SKMC	muscle:	n/a
20	chr13:64386020-64386070	SKMC	muscle:	n/a
21	chr13:64385881-64385931	HCPEpiC	choroid plexus:	n/a
22	chr13:64388106-64388156	HUVEC	blood vessel:	n/a
23	chr13:64382075-64382125	AoSMC	blood vessel:	n/a
24	chr13:64386291-64386341	ProgFib	skin:	n/a
25	chr13:64388106-64388156	SK-N-SH_RA	brain:	n/a
26	chr13:64382075-64382125	U87	brain:	n/a
27	chr13:64388106-64388156	MCF10A-Er-Src	breast:	n/a
28	chr13:64385881-64385931	BE2_C	brain:	n/a
29	chr13:64384119-64384169	Jurkat	blood:	n/a
30	chr13:64382075-64382125	HPAEpiC	pulmonary alveolar:	n/a
31	chr13:64384119-64384169	NT2-D1	testis:	n/a
32	chr13:64384119-64384169	GM12878	blood:	n/a
33	chr13:64386291-64386341	HNPCEpiC	eye:	n/a
34	chr13:64382075-64382125	HMEC	breast:	n/a
35	chr13:64386291-64386341	AG04449	skin:	fetal
36	chr13:64385720-64385770	CMK	blood:	n/a
37	chr13:64384119-64384169	NH-A	brain:	n/a
38	chr13:64388106-64388156	GM06990	blood:	n/a
39	chr13:64385881-64385931	ovcar-3	ovarian:	n/a
40	chr13:64388106-64388156	NT2-D1	testis:	n/a
41	chr13:64384119-64384169	HMEC	breast:	n/a
42	chr13:64385881-64385931	BJ	skin:	n/a
43	chr13:64384119-64384169	SK-N-SH	brain:	n/a
44	chr13:64384119-64384169	SK-N-MC	brain:	n/a
45	chr13:64382075-64382125	HepG2	liver:	n/a
46	chr13:64382075-64382125	ProgFib	skin:	n/a
47	chr13:64386020-64386070	BE2_C	brain:	n/a
48	chr13:64384119-64384169	IMR90	lung:	fetal
49	chr13:64385881-64385931	GM12891	blood:	n/a
50	chr13:64385881-64385931	GM12878	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-10	chr13:64402973-64403285	ENSG00000219926.6
2	lnc-AL445989.1-1	chr13:64324837-64325213	ENSG00000237378
3	lnc-PCDH20-10	chr13:64402902-64403292	ENSG00000219926.3
4	lnc-AL445989.1-1	chr13:64322132-64322530	ENSG00000237378
5	lnc-PCDH20-10	chr13:64402967-64403285	NONHSAT034181
6	lnc-PCDH20-10	chr13:64403127-64403285	NONHSAT034184

No data

Variant related genes	Relation type
RNU6-81P	TF binding region
PPP1R2P10	TF binding region
ENSG00000237378	TF binding region
RNU6-81P	CpG island
PPP1R2P10	CpG island
ENSG00000237378	CpG island

Extended variants
information (count: 201 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535987476	chr13:64322266-64322267	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs535489980	chr13:64322348-64322349	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs370758458	chr13:64322378-64322379	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs9571029	chr13:64322382-64322383	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs572064067	chr13:64322395-64322396	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs545905703	chr13:64322400-64322401	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs2635894	chr13:64322420-64322421	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs564595236	chr13:64322426-64322427	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs9571030	chr13:64322473-64322474	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs2635895	chr13:64322489-64322490	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs9564106	chr13:64347431-64347432	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs538567018	chr13:64347434-64347435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557213231	chr13:64347439-64347440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74090257	chr13:64347533-64347534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535825286	chr13:64347567-64347568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550545831	chr13:64347613-64347614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554282042	chr13:64347645-64347646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143513652	chr13:64347677-64347678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192288794	chr13:64347748-64347749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12864852	chr13:64347789-64347790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114696459	chr13:64347802-64347803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185094595	chr13:64347805-64347806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140508967	chr13:64347811-64347812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12864850	chr13:64347820-64347821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144169968	chr13:64347856-64347857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545416251	chr13:64347861-64347862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs151205991	chr13:64347872-64347873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188823978	chr13:64347876-64347877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530954703	chr13:64347877-64347878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543027450	chr13:64347881-64347882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370821649	chr13:64347882-64347883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561232159	chr13:64347902-64347903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs193221880	chr13:64347904-64347905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117384155	chr13:64347995-64347996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12866269	chr13:64347996-64347997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377206704	chr13:64348007-64348008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572525693	chr13:64348076-64348077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572029713	chr13:64348084-64348085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145182241	chr13:64356163-64356164	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs570476050	chr13:64356182-64356183	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs9539863	chr13:64356201-64356202	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs142171074	chr13:64356202-64356203	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs574603702	chr13:64356265-64356266	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs369716801	chr13:64356273-64356274	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs7985606	chr13:64356296-64356297	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs572393446	chr13:64356318-64356319	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs535794826	chr13:64356366-64356367	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs546078654	chr13:64356392-64356393	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs184630470	chr13:64356417-64356418	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs149598639	chr13:64356424-64356425	Inactive region	TF binding region	1 gene(s)	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64347400-64348200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:64384200-64386000	Active TSS	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links