Variant report

Variant	nsv900324
Chromosome Location	chr13:64298853-64392087
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:144)
CpG islands
(count:610)
Chromatin interactive
region (count:2)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:144 , 50 per page) page: 1 2 3

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	chr13:64324188-64324191	GM19240	blood:	n/a	n/a
4	CTCF	chr13:64362185-64362247	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr13:64324047-64324270	Medullo	brain:	n/a	n/a
6	CTCF	chr13:64324030-64324275	Gliobla	brain:	n/a	n/a
7	CTCF	chr13:64330862-64330927	Medullo	brain:	n/a	n/a
8	CTCF	chr13:64330314-64330384	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr13:64324028-64324296	A549	lung:	n/a	n/a
10	CTCF	chr13:64324097-64324217	Spleen_OC	spleen:	n/a	n/a
11	CTCF	chr13:64324080-64324269	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr13:64324034-64324271	MCF-7	breast:	n/a	n/a
13	CTCF	chr13:64324040-64324265	HepG2	liver:	n/a	n/a
14	CTCF	chr13:64320948-64321033	LNCaP	prostate:	n/a	n/a
15	CTCF	chr13:64324173-64324251	GM12878	blood:	n/a	n/a
16	CTCF	chr13:64324128-64324253	GM19239	blood:	n/a	n/a
17	CTCF	chr13:64374170-64374211	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr13:64324079-64324211	Pancreas_OC	pancreas:	n/a	n/a
19	CTCF	chr13:64343509-64343605	GM20000	blood:	n/a	n/a
20	CTCF	chr13:64388087-64388090	MCF-7	breast:	n/a	n/a
21	CTCF	chr13:64312154-64312170	GM20000	blood:	n/a	n/a
22	CTCF	chr13:64324125-64324255	Fibrobl	skin:	n/a	n/a
23	CTCF	chr13:64324117-64324248	GM10266	blood:	n/a	n/a
24	CTCF	chr13:64388066-64388097	MCF-7	breast:	n/a	n/a
25	CTCF	chr13:64334444-64334532	Spleen_OC	spleen:	n/a	n/a
26	CTCF	chr13:64324146-64324249	GM19238	blood:	n/a	n/a
27	CTCF	chr13:64384593-64384675	Lung_OC	lung:	n/a	n/a
28	CTCF	chr13:64324183-64324225	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr13:64338203-64338280	GM13976	blood:	n/a	n/a
30	CTCF	chr13:64324108-64324265	MCF-7	breast:	n/a	n/a
31	CTCF	chr13:64324197-64324224	GM19240	blood:	n/a	n/a
32	CTCF	chr13:64338648-64338715	Kidney_OC	kidney:	n/a	n/a
33	CTCF	chr13:64312774-64312800	Spleen_OC	spleen:	n/a	n/a
34	CTCF	chr13:64377920-64378070	GM12869	blood:	n/a	n/a
35	CTCF	chr13:64338485-64338489	ProgFib	skin:	n/a	n/a
36	CTCF	chr13:64324050-64324261	MCF-7	breast:	n/a	n/a
37	CTCF	chr13:64356700-64356850	HepG2	liver:	n/a	n/a
38	CTCF	chr13:64388012-64388076	MCF-7	breast:	n/a	n/a
39	CTCF	chr13:64324142-64324254	A549	lung:	n/a	n/a
40	CTCF	chr13:64324133-64324259	MCF-7	breast:	n/a	n/a
41	CTCF	chr13:64338496-64338540	ProgFib	skin:	n/a	n/a
42	CTCF	chr13:64324126-64324196	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr13:64324042-64324308	LNCaP	prostate:	n/a	n/a
44	CTCF	chr13:64328827-64328856	LNCaP	prostate:	n/a	n/a
45	CTCF	chr13:64388076-64388141	Fibrobl	skin:	n/a	n/a
46	CTCF	chr13:64343244-64343298	GM13976	blood:	n/a	n/a
47	CTCF	chr13:64377845-64377936	GM13976	blood:	n/a	n/a
48	CTCF	chr13:64339091-64339163	Lung_OC	lung:	n/a	n/a
49	CTCF	chr13:64324092-64324260	MCF-7	breast:	n/a	n/a
50	CTCF	chr13:64388099-64388105	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	chr13:64385720-64385770	NH-A	brain:	n/a
2	chr13:64311397-64311447	K562	blood:	n/a
3	chr13:64385881-64385931	NHDF-neo	bronchial:	n/a
4	chr13:64311397-64311447	BE2_C	brain:	n/a
5	chr13:64388106-64388156	NHBE	bronchial:	n/a
6	chr13:64388106-64388156	ovcar-3	ovarian:	n/a
7	chr13:64385720-64385770	HEEpiC	esophagus:	n/a
8	chr13:64311555-64311605	Caco-2	colon:	n/a
9	chr13:64382075-64382125	GM12892	blood:	n/a
10	chr13:64386020-64386070	HMEC	breast:	n/a
11	chr13:64311397-64311447	SK-N-SH_RA	brain:	n/a
12	chr13:64382075-64382125	HCF	heart:	n/a
13	chr13:64311397-64311447	NHDF-neo	bronchial:	n/a
14	chr13:64385881-64385931	NH-A	brain:	n/a
15	chr13:64311397-64311447	GM06990	blood:	n/a
16	chr13:64386291-64386341	MCF-7	breast:	n/a
17	chr13:64385881-64385931	RPTEC	kidney:	n/a
18	chr13:64385881-64385931	CMK	blood:	n/a
19	chr13:64384119-64384169	NH-A	brain:	n/a
20	chr13:64311555-64311605	IMR90	lung:	fetal
21	chr13:64311397-64311447	HIPEpiC	eye:	n/a
22	chr13:64388106-64388156	ECC-1	luminal epithelium:	n/a
23	chr13:64311397-64311447	GM12891	blood:	n/a
24	chr13:64311397-64311447	MCF10A-Er-Src	breast:	n/a
25	chr13:64315383-64315433	Jurkat	blood:	n/a
26	chr13:64311397-64311447	HUVEC	blood vessel:	n/a
27	chr13:64384119-64384169	HRCEpiC	kidney:	n/a
28	chr13:64386020-64386070	K562	blood:	n/a
29	chr13:64386291-64386341	Hepatocyte	liver:	n/a
30	chr13:64311397-64311447	Hela-S3	cervix:	n/a
31	chr13:64385720-64385770	HAEpiC	amniotic membrane:	n/a
32	chr13:64388106-64388156	HCPEpiC	choroid plexus:	n/a
33	chr13:64315383-64315433	BJ	skin:	n/a
34	chr13:64386291-64386341	SKMC	muscle:	n/a
35	chr13:64311555-64311605	A549	lung:	n/a
36	chr13:64388106-64388156	HAEpiC	amniotic membrane:	n/a
37	chr13:64386020-64386070	AG09319	gingival:	n/a
38	chr13:64311397-64311447	NHBE	bronchial:	n/a
39	chr13:64385720-64385770	HL-60	blood:	n/a
40	chr13:64384119-64384169	SAEC	small airway:	n/a
41	chr13:64386291-64386341	NB4	blood:	n/a
42	chr13:64382075-64382125	NH-A	brain:	n/a
43	chr13:64315383-64315433	A549	lung:	n/a
44	chr13:64385881-64385931	AG10803	skin:	n/a
45	chr13:64384119-64384169	PANC-1	pancreas:	n/a
46	chr13:64385720-64385770	AG09319	gingival:	n/a
47	chr13:64311397-64311447	NB4	blood:	n/a
48	chr13:64385881-64385931	GM12878	blood:	n/a
49	chr13:64382075-64382125	ProgFib	skin:	n/a
50	chr13:64385720-64385770	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:64303686..64305846-chr13:64306387..64309282,2	MCF-7	breast:
2	chr13:64303686..64305846-chr13:64306387..64309282,2	MCF-7	breast:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL445989.1-1	chr13:64322132-64322530	ENSG00000237378
2	lnc-AL445989.1-20	chr13:64311843-64312482	NONHSAT034172
3	lnc-AL445989.1-20	chr13:64316485-64316936	NONHSAT034173
4	lnc-AL445989.1-20	chr13:64311843-64312416	NONHSAT034173
5	lnc-AL445989.1-20	chr13:64314899-64315042	NONHSAT034173
6	lnc-AL445989.1-20	chr13:64313246-64314376	NONHSAT034175
7	lnc-AL445989.1-1	chr13:64324837-64325213	ENSG00000237378
8	lnc-PCDH20-9	chr13:64312042-64312151	XLOC_010643
9	lnc-AL445989.1-20	chr13:64316485-64316936	NONHSAT034172
10	lnc-PCDH20-9	chr13:64301184-64301215	XLOC_010643
11	lnc-AL445989.1-20	chr13:64316485-64316936	NONHSAT034174
12	lnc-AL445989.1-20	chr13:64316485-64316936	NONHSAT034175
13	lnc-AL445989.1-20	chr13:64314899-64315042	NONHSAT034174
14	lnc-AL445989.1-20	chr13:64316498-64316945	NONHSAT034176
15	lnc-PCDH20-9	chr13:64303522-64303895	XLOC_010643
16	lnc-PCDH20-9	chr13:64303522-64303642	XLOC_010643
17	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: 957 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:957 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189614580	chr13:64302402-64302403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562805618	chr13:64302424-64302425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192850660	chr13:64302445-64302446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113545937	chr13:64302538-64302539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548202034	chr13:64302558-64302559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566322721	chr13:64302599-64302600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527265091	chr13:64302605-64302606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375216998	chr13:64302606-64302607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185265496	chr13:64302611-64302612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140086422	chr13:64302634-64302635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190352287	chr13:64302645-64302646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150496236	chr13:64302709-64302710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557267904	chr13:64302718-64302719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570817733	chr13:64302769-64302770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112513002	chr13:64302783-64302784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77255608	chr13:64302868-64302869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554978659	chr13:64302994-64302995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145396666	chr13:64303008-64303009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564290054	chr13:64303046-64303047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533372521	chr13:64303054-64303055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201091060	chr13:64303055-64303056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544466845	chr13:64303086-64303087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562526601	chr13:64303088-64303089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530030032	chr13:64303101-64303102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539697502	chr13:64303137-64303138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547191141	chr13:64303203-64303204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142575243	chr13:64303219-64303220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9571012	chr13:64303276-64303277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs146694405	chr13:64303285-64303286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139162251	chr13:64303297-64303298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570257438	chr13:64303301-64303302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181486276	chr13:64303336-64303337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539439943	chr13:64303341-64303342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186429673	chr13:64303405-64303406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73506726	chr13:64303430-64303431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs189315583	chr13:64303452-64303453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569967052	chr13:64303463-64303464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537770143	chr13:64303470-64303471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9571013	chr13:64303507-64303508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs34314487	chr13:64303523-64303524	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs574159701	chr13:64303528-64303529	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs143057308	chr13:64303532-64303533	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs9571014	chr13:64303536-64303537	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs577448137	chr13:64303577-64303578	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs147037940	chr13:64303588-64303589	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs558139499	chr13:64303593-64303594	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs78861309	chr13:64303658-64303659	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs556592759	chr13:64303727-64303728	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs574561764	chr13:64303728-64303729	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs148097700	chr13:64303813-64303814	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64302400-64302800	Enhancers	Fetal Intestine Small	intestine
2	chr13:64302400-64303200	Enhancers	Fetal Intestine Large	intestine
3	chr13:64302800-64303800	Weak transcription	Fetal Intestine Small	intestine
4	chr13:64303200-64303600	Weak transcription	Fetal Intestine Large	intestine
5	chr13:64303600-64303800	Enhancers	Fetal Intestine Large	intestine
6	chr13:64303800-64304400	Enhancers	Fetal Intestine Small	intestine
7	chr13:64303800-64305800	Weak transcription	Fetal Intestine Large	intestine
8	chr13:64304400-64305800	Weak transcription	Fetal Intestine Small	intestine
9	chr13:64305600-64306000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr13:64305800-64306200	Enhancers	HepG2	liver
11	chr13:64305800-64306600	Enhancers	Fetal Intestine Large	intestine
12	chr13:64305800-64306600	Enhancers	Stomach Mucosa	stomach
13	chr13:64305800-64307200	Enhancers	Fetal Intestine Small	intestine
14	chr13:64306000-64307800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr13:64306200-64307000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:64307800-64308200	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr13:64308200-64310200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr13:64310200-64310600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr13:64315400-64316200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:64347400-64348200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr13:64384200-64386000	Active TSS	HUES6 Cell Line	embryonic stem cell

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