Variant report

Variant	nsv900325
Chromosome Location	chr13:64310757-64404330
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:170)
CpG islands
(count:610)
Chromatin interactive
region (count:0)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:170 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr13:64313524-64313659	HepG2	liver:	n/a	chr13:64313555-64313566
2	CHD2	chr13:64385983-64386021	K562	blood:	n/a	n/a
3	CTCF	chr13:64403812-64404067	MCF-7	breast:	n/a	n/a
4	CTCF	chr13:64403881-64403963	GM19239	blood:	n/a	n/a
5	CTCF	chr13:64403234-64403280	LNCaP	prostate:	n/a	n/a
6	CTCF	chr13:64324197-64324224	GM19240	blood:	n/a	n/a
7	CTCF	chr13:64374170-64374211	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr13:64403878-64404020	GM13977	blood:	n/a	n/a
9	CTCF	chr13:64338203-64338280	GM13976	blood:	n/a	n/a
10	CTCF	chr13:64324079-64324211	Pancreas_OC	pancreas:	n/a	n/a
11	CTCF	chr13:64324030-64324275	Gliobla	brain:	n/a	n/a
12	CTCF	chr13:64312774-64312800	Spleen_OC	spleen:	n/a	n/a
13	CTCF	chr13:64324072-64324260	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr13:64334444-64334532	Spleen_OC	spleen:	n/a	n/a
15	CTCF	chr13:64330862-64330927	Medullo	brain:	n/a	n/a
16	CTCF	chr13:64338485-64338489	ProgFib	skin:	n/a	n/a
17	CTCF	chr13:64320948-64321033	LNCaP	prostate:	n/a	n/a
18	CTCF	chr13:64403826-64404065	LNCaP	prostate:	n/a	n/a
19	CTCF	chr13:64324052-64324317	LNCaP	prostate:	n/a	n/a
20	CTCF	chr13:64324118-64324236	GM13977	blood:	n/a	n/a
21	CTCF	chr13:64403767-64404058	A549	lung:	n/a	n/a
22	CTCF	chr13:64403886-64403996	GM10266	blood:	n/a	n/a
23	CTCF	chr13:64388087-64388090	MCF-7	breast:	n/a	n/a
24	CTCF	chr13:64388099-64388105	MCF-7	breast:	n/a	n/a
25	CTCF	chr13:64324146-64324249	GM19238	blood:	n/a	n/a
26	CTCF	chr13:64403870-64403967	GM19240	blood:	n/a	n/a
27	CTCF	chr13:64403903-64404008	GM10248	blood:	n/a	n/a
28	CTCF	chr13:64324173-64324251	GM12878	blood:	n/a	n/a
29	CTCF	chr13:64324042-64324308	LNCaP	prostate:	n/a	n/a
30	CTCF	chr13:64403881-64404014	GM13976	blood:	n/a	n/a
31	CTCF	chr13:64377920-64378070	GM12869	blood:	n/a	n/a
32	CTCF	chr13:64384593-64384675	Lung_OC	lung:	n/a	n/a
33	CTCF	chr13:64343509-64343605	GM20000	blood:	n/a	n/a
34	CTCF	chr13:64324128-64324253	GM19239	blood:	n/a	n/a
35	CTCF	chr13:64403936-64403999	Spleen_OC	spleen:	n/a	n/a
36	CTCF	chr13:64324125-64324255	Fibrobl	skin:	n/a	n/a
37	CTCF	chr13:64324024-64324308	K562	blood:	n/a	n/a
38	CTCF	chr13:64403828-64403986	Fibrobl	skin:	n/a	n/a
39	CTCF	chr13:64320841-64320933	LNCaP	prostate:	n/a	n/a
40	CTCF	chr13:64403857-64403983	A549	lung:	n/a	n/a
41	CTCF	chr13:64388076-64388141	Fibrobl	skin:	n/a	n/a
42	CTCF	chr13:64324034-64324271	MCF-7	breast:	n/a	n/a
43	CTCF	chr13:64403895-64403950	GM19238	blood:	n/a	n/a
44	CTCF	chr13:64362185-64362247	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr13:64403897-64403955	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr13:64324080-64324269	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr13:64403872-64403970	ProgFib	skin:	n/a	n/a
48	CTCF	chr13:64343244-64343298	GM13976	blood:	n/a	n/a
49	CTCF	chr13:64328827-64328856	LNCaP	prostate:	n/a	n/a
50	CTCF	chr13:64388012-64388076	MCF-7	breast:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:64382075-64382125	MCF-7	breast:	n/a
2	chr13:64382075-64382125	SK-N-SH	brain:	n/a
3	chr13:64384119-64384169	HCT-116	colon:	n/a
4	chr13:64388106-64388156	IMR90	lung:	fetal
5	chr13:64385720-64385770	H1-hESC	embryonic stem cell:	embryo
6	chr13:64384119-64384169	ECC-1	luminal epithelium:	n/a
7	chr13:64385881-64385931	T-47D	breast:	n/a
8	chr13:64311555-64311605	PANC-1	pancreas:	n/a
9	chr13:64315383-64315433	HPAEpiC	pulmonary alveolar:	n/a
10	chr13:64311397-64311447	AG10803	skin:	n/a
11	chr13:64311555-64311605	Hepatocyte	liver:	n/a
12	chr13:64386291-64386341	BE2_C	brain:	n/a
13	chr13:64315383-64315433	MCF-7	breast:	n/a
14	chr13:64385881-64385931	A549	lung:	n/a
15	chr13:64311397-64311447	RPTEC	kidney:	n/a
16	chr13:64386291-64386341	MCF-7	breast:	n/a
17	chr13:64382075-64382125	ECC-1	luminal epithelium:	n/a
18	chr13:64385881-64385931	HEEpiC	esophagus:	n/a
19	chr13:64388106-64388156	HUVEC	blood vessel:	n/a
20	chr13:64385881-64385931	HCF	heart:	n/a
21	chr13:64386020-64386070	GM06990	blood:	n/a
22	chr13:64386020-64386070	HEK293	kidney:	embryo
23	chr13:64311397-64311447	ECC-1	luminal epithelium:	n/a
24	chr13:64311555-64311605	NB4	blood:	n/a
25	chr13:64385720-64385770	HAEpiC	amniotic membrane:	n/a
26	chr13:64385881-64385931	AG04449	skin:	fetal
27	chr13:64385881-64385931	AoSMC	blood vessel:	n/a
28	chr13:64388106-64388156	GM19239	blood:	n/a
29	chr13:64382075-64382125	GM12891	blood:	n/a
30	chr13:64386020-64386070	MCF-7	breast:	n/a
31	chr13:64385881-64385931	HIPEpiC	eye:	n/a
32	chr13:64384119-64384169	HAEpiC	amniotic membrane:	n/a
33	chr13:64385881-64385931	MCF10A-Er-Src	breast:	n/a
34	chr13:64311397-64311447	K562	blood:	n/a
35	chr13:64384119-64384169	GM12891	blood:	n/a
36	chr13:64385881-64385931	AG04450	lung:	fetal
37	chr13:64385720-64385770	HMEC	breast:	n/a
38	chr13:64311555-64311605	RPTEC	kidney:	n/a
39	chr13:64315383-64315433	Hela-S3	cervix:	n/a
40	chr13:64384119-64384169	PFSK-1	brain:	n/a
41	chr13:64385881-64385931	BJ	skin:	n/a
42	chr13:64388106-64388156	MCF-7	breast:	n/a
43	chr13:64385720-64385770	BJ	skin:	n/a
44	chr13:64386291-64386341	PFSK-1	brain:	n/a
45	chr13:64311397-64311447	HEK293	kidney:	embryo
46	chr13:64384119-64384169	HepG2	liver:	n/a
47	chr13:64386020-64386070	ECC-1	luminal epithelium:	n/a
48	chr13:64311397-64311447	AG09319	gingival:	n/a
49	chr13:64311397-64311447	AG09309	skin:	n/a
50	chr13:64315383-64315433	HEK293	kidney:	embryo

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL445989.1-20	chr13:64311843-64312482	NONHSAT034172
2	lnc-AL445989.1-1	chr13:64324837-64325213	ENSG00000237378
3	lnc-PCDH20-10	chr13:64402902-64403292	ENSG00000219926.3
4	lnc-AL445989.1-20	chr13:64311843-64312416	NONHSAT034173
5	lnc-AL445989.1-20	chr13:64314899-64315042	NONHSAT034173
6	lnc-PCDH20-10	chr13:64403127-64403285	NONHSAT034184
7	lnc-AL445989.1-1	chr13:64322132-64322530	ENSG00000237378
8	lnc-PCDH20-10	chr13:64402973-64403285	ENSG00000219926.6
9	lnc-AL445989.1-20	chr13:64316485-64316936	NONHSAT034175
10	lnc-AL445989.1-20	chr13:64316485-64316936	NONHSAT034172
11	lnc-AL445989.1-20	chr13:64316498-64316945	NONHSAT034176
12	lnc-AL445989.1-20	chr13:64316485-64316936	NONHSAT034174
13	lnc-AL445989.1-20	chr13:64314899-64315042	NONHSAT034174
14	lnc-PCDH20-10	chr13:64402967-64403285	NONHSAT034181
15	lnc-PCDH20-9	chr13:64312042-64312151	XLOC_010643
16	lnc-AL445989.1-20	chr13:64316485-64316936	NONHSAT034173
17	lnc-AL445989.1-20	chr13:64313246-64314376	NONHSAT034175
18	lnc-AL445989.1-20	chr13:64313246-64314310	NONHSAT034174

No data

Variant related genes	Relation type
ENSG00000226974	TF binding region
RNU6-81P	TF binding region
LINC00395	TF binding region
PPP1R2P10	TF binding region
ENSG00000237378	TF binding region
OR7E156P	TF binding region
ENSG00000226974	CpG island
RNU6-81P	CpG island
LINC00395	CpG island
PPP1R2P10	CpG island
ENSG00000237378	CpG island
OR7E156P	CpG island

Extended variants
information (count: 669 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:669 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141780600	chr13:64311513-64311514	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs142914652	chr13:64311524-64311525	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs376870178	chr13:64311556-64311557	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs563791996	chr13:64311558-64311559	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs111889006	chr13:64311561-64311562	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs576085829	chr13:64311575-64311576	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs573826467	chr13:64311632-64311633	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs143325226	chr13:64311633-64311634	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs372702173	chr13:64311639-64311640	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs543526664	chr13:64311658-64311659	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs561596230	chr13:64311676-64311677	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs192871817	chr13:64311677-64311678	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs7994030	chr13:64311684-64311685	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs560804718	chr13:64311691-64311692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs140966098	chr13:64311694-64311695	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs570844622	chr13:64311706-64311707	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs531571506	chr13:64311707-64311708	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs550258335	chr13:64311711-64311712	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs568167290	chr13:64311712-64311713	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs535310477	chr13:64311713-64311714	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs553542259	chr13:64311717-64311718	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs185836160	chr13:64311718-64311719	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs539698177	chr13:64311719-64311720	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs557740236	chr13:64311737-64311738	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs556583087	chr13:64311740-64311741	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs527798125	chr13:64311743-64311744	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs190363282	chr13:64311757-64311758	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs555506529	chr13:64311775-64311776	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs573779688	chr13:64311777-64311778	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs547853684	chr13:64311853-64311854	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs180900610	chr13:64311886-64311887	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs373686336	chr13:64311893-64311894	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs184135108	chr13:64311894-64311895	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs547218741	chr13:64311907-64311908	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs577830255	chr13:64311915-64311916	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs376782868	chr13:64311917-64311918	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs539224639	chr13:64311921-64311922	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs561151137	chr13:64311946-64311947	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs73506739	chr13:64311954-64311955	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs138835307	chr13:64311962-64311963	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs537098773	chr13:64311987-64311988	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs188745440	chr13:64311991-64311992	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs534729046	chr13:64312005-64312006	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs553067237	chr13:64312008-64312009	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs140508558	chr13:64312022-64312023	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs546033458	chr13:64312028-64312029	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs144915692	chr13:64312029-64312030	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs576653958	chr13:64312038-64312039	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs543446460	chr13:64312040-64312041	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs561725073	chr13:64312080-64312081	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64315400-64316200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:64347400-64348200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:64384200-64386000	Active TSS	HUES6 Cell Line	embryonic stem cell

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