Variant report

Variant	nsv1044802
Chromosome Location	chr13:64306174-64392243
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:139)
CpG islands
(count:611)
Chromatin interactive
region (count:1)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:139 , 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	chr13:64324146-64324249	GM19238	blood:	n/a	n/a
4	CTCF	chr13:64324092-64324260	MCF-7	breast:	n/a	n/a
5	CTCF	chr13:64324097-64324217	Spleen_OC	spleen:	n/a	n/a
6	CTCF	chr13:64324030-64324275	Gliobla	brain:	n/a	n/a
7	CTCF	chr13:64312154-64312170	GM20000	blood:	n/a	n/a
8	CTCF	chr13:64338648-64338715	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr13:64324042-64324308	LNCaP	prostate:	n/a	n/a
10	CTCF	chr13:64324183-64324225	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr13:64324094-64324161	K562	blood:	n/a	n/a
12	CTCF	chr13:64324119-64324214	GM10248	blood:	n/a	n/a
13	CTCF	chr13:64356700-64356850	HepG2	liver:	n/a	n/a
14	CTCF	chr13:64324117-64324248	GM10266	blood:	n/a	n/a
15	CTCF	chr13:64324133-64324244	ProgFib	skin:	n/a	n/a
16	CTCF	chr13:64324079-64324211	Pancreas_OC	pancreas:	n/a	n/a
17	CTCF	chr13:64324040-64324265	HepG2	liver:	n/a	n/a
18	CTCF	chr13:64324034-64324271	MCF-7	breast:	n/a	n/a
19	CTCF	chr13:64338496-64338540	ProgFib	skin:	n/a	n/a
20	CTCF	chr13:64377920-64378070	GM12869	blood:	n/a	n/a
21	CTCF	chr13:64324108-64324265	MCF-7	breast:	n/a	n/a
22	CTCF	chr13:64388066-64388097	MCF-7	breast:	n/a	n/a
23	CTCF	chr13:64324197-64324224	GM19240	blood:	n/a	n/a
24	CTCF	chr13:64388087-64388090	MCF-7	breast:	n/a	n/a
25	CTCF	chr13:64324126-64324196	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr13:64320841-64320933	LNCaP	prostate:	n/a	n/a
27	CTCF	chr13:64324047-64324270	Medullo	brain:	n/a	n/a
28	CTCF	chr13:64324080-64324269	Kidney_OC	kidney:	n/a	n/a
29	CTCF	chr13:64324188-64324191	GM19240	blood:	n/a	n/a
30	CTCF	chr13:64343509-64343605	GM20000	blood:	n/a	n/a
31	CTCF	chr13:64324050-64324261	MCF-7	breast:	n/a	n/a
32	CTCF	chr13:64388076-64388141	Fibrobl	skin:	n/a	n/a
33	CTCF	chr13:64384593-64384675	Lung_OC	lung:	n/a	n/a
34	CTCF	chr13:64324028-64324296	A549	lung:	n/a	n/a
35	CTCF	chr13:64324024-64324308	K562	blood:	n/a	n/a
36	CTCF	chr13:64377845-64377936	GM13976	blood:	n/a	n/a
37	CTCF	chr13:64343244-64343298	GM13976	blood:	n/a	n/a
38	CTCF	chr13:64324142-64324254	A549	lung:	n/a	n/a
39	CTCF	chr13:64374170-64374211	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chr13:64320948-64321033	LNCaP	prostate:	n/a	n/a
41	CTCF	chr13:64330314-64330384	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr13:64338203-64338280	GM13976	blood:	n/a	n/a
43	CTCF	chr13:64313949-64314007	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr13:64330862-64330927	Medullo	brain:	n/a	n/a
45	CTCF	chr13:64324133-64324259	MCF-7	breast:	n/a	n/a
46	CTCF	chr13:64324072-64324260	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr13:64339091-64339163	Lung_OC	lung:	n/a	n/a
48	CTCF	chr13:64388012-64388076	MCF-7	breast:	n/a	n/a
49	CTCF	chr13:64338485-64338489	ProgFib	skin:	n/a	n/a
50	CTCF	chr13:64324125-64324255	Fibrobl	skin:	n/a	n/a

(count:611 , 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	SAEC	small airway:	n/a
2	chr13:64382075-64382125	SAEC	small airway:	n/a
3	chr13:64386291-64386341	HRPEpiC	eye:	n/a
4	chr13:64384119-64384169	PFSK-1	brain:	n/a
5	chr13:64386291-64386341	HEK293	kidney:	embryo
6	chr13:64385720-64385770	HAEpiC	amniotic membrane:	n/a
7	chr13:64385881-64385931	PFSK-1	brain:	n/a
8	chr13:64311555-64311605	AG10803	skin:	n/a
9	chr13:64311555-64311605	HRPEpiC	eye:	n/a
10	chr13:64388106-64388156	HEK293	kidney:	embryo
11	chr13:64386020-64386070	GM19239	blood:	n/a
12	chr13:64386291-64386341	U87	brain:	n/a
13	chr13:64382075-64382125	T-47D	breast:	n/a
14	chr13:64311397-64311447	ECC-1	luminal epithelium:	n/a
15	chr13:64388106-64388156	HUVEC	blood vessel:	n/a
16	chr13:64385881-64385931	SK-N-SH_RA	brain:	n/a
17	chr13:64388106-64388156	HNPCEpiC	eye:	n/a
18	chr13:64385720-64385770	SK-N-SH_RA	brain:	n/a
19	chr13:64384119-64384169	PrEC	prostate:	n/a
20	chr13:64384119-64384169	HRPEpiC	eye:	n/a
21	chr13:64385881-64385931	A549	lung:	n/a
22	chr13:64386020-64386070	HEEpiC	esophagus:	n/a
23	chr13:64388106-64388156	Jurkat	blood:	n/a
24	chr13:64382075-64382125	NH-A	brain:	n/a
25	chr13:64315383-64315433	MCF-7	breast:	n/a
26	chr13:64311397-64311447	K562	blood:	n/a
27	chr13:64385720-64385770	NT2-D1	testis:	n/a
28	chr13:64385881-64385931	K562	blood:	n/a
29	chr13:64382075-64382125	BE2_C	brain:	n/a
30	chr13:64388106-64388156	LNCaP	prostate:	n/a
31	chr13:64386020-64386070	ovcar-3	ovarian:	n/a
32	chr13:64315383-64315433	U87	brain:	n/a
33	chr13:64385720-64385770	HMEC	breast:	n/a
34	chr13:64386291-64386341	AG04450	lung:	fetal
35	chr13:64382075-64382125	GM12892	blood:	n/a
36	chr13:64385720-64385770	MCF-7	breast:	n/a
37	chr13:64315383-64315433	H1-hESC	embryonic stem cell:	embryo
38	chr13:64382075-64382125	HEEpiC	esophagus:	n/a
39	chr13:64311555-64311605	SK-N-SH_RA	brain:	n/a
40	chr13:64386291-64386341	SAEC	small airway:	n/a
41	chr13:64386020-64386070	HAEpiC	amniotic membrane:	n/a
42	chr13:64388106-64388156	HPAEpiC	pulmonary alveolar:	n/a
43	chr13:64388106-64388156	HRE	kidney:	n/a
44	chr13:64385720-64385770	HCM	heart:	n/a
45	chr13:64311397-64311447	T-47D	breast:	n/a
46	chr13:64382075-64382125	PFSK-1	brain:	n/a
47	chr13:64384119-64384169	SK-N-MC	brain:	n/a
48	chr13:64311397-64311447	HPAEpiC	pulmonary alveolar:	n/a
49	chr13:64382075-64382125	AG09319	gingival:	n/a
50	chr13:64311397-64311447	Jurkat	blood:	n/a

(count:1 , 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:

(count:14 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 831 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:831 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3922925	chr13:64306174-64306175	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551334037	chr13:64306230-64306231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555343644	chr13:64306268-64306269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549582485	chr13:64306301-64306302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs55965815	chr13:64306311-64306312	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs371312206	chr13:64306313-64306314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3922926	chr13:64306395-64306396	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs534122703	chr13:64306409-64306410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371819765	chr13:64306449-64306450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577806592	chr13:64306484-64306485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537019511	chr13:64306500-64306501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546460189	chr13:64306514-64306515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564686165	chr13:64306524-64306525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192243842	chr13:64306602-64306603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185023198	chr13:64306603-64306604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562210565	chr13:64306623-64306624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529297982	chr13:64306641-64306642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56215764	chr13:64306649-64306650	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs189534964	chr13:64306693-64306694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533244887	chr13:64306740-64306741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551199060	chr13:64306754-64306755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192292263	chr13:64306790-64306791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148410932	chr13:64306806-64306807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536809922	chr13:64306863-64306864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549266387	chr13:64306907-64306908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567399095	chr13:64306919-64306920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570035603	chr13:64306964-64306965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534648603	chr13:64307022-64307023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12866154	chr13:64307023-64307024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184196050	chr13:64307116-64307117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577845644	chr13:64307139-64307140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538713698	chr13:64307163-64307164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7986012	chr13:64307200-64307201	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs189378500	chr13:64307204-64307205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4363749	chr13:64307261-64307262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs550072583	chr13:64307303-64307304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543612908	chr13:64307344-64307345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566289706	chr13:64307365-64307366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111870687	chr13:64307399-64307400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369659348	chr13:64307406-64307407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573995297	chr13:64307408-64307409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200371239	chr13:64307442-64307443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541069466	chr13:64307446-64307447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115585403	chr13:64307447-64307448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557310856	chr13:64307548-64307549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200661948	chr13:64307562-64307563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527269078	chr13:64307702-64307703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533280542	chr13:64307707-64307708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9598619	chr13:64307766-64307767	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs74090222	chr13:64307771-64307772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64305800-64306200	Enhancers	HepG2	liver
2	chr13:64305800-64306600	Enhancers	Fetal Intestine Large	intestine
3	chr13:64305800-64306600	Enhancers	Stomach Mucosa	stomach
4	chr13:64305800-64307200	Enhancers	Fetal Intestine Small	intestine
5	chr13:64306000-64307800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr13:64306200-64307000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:64307800-64308200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr13:64308200-64310200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr13:64310200-64310600	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr13:64315400-64316200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:64347400-64348200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	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