Variant report

Variant	esv1810064
Chromosome Location	chr13:53412849-53441018
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1307)
CpG islands
(count:2201)
Chromatin interactive
region (count:46)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1307 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr13:53425560-53426235	GM12878	blood:	n/a	n/a
2	ATF2	chr13:53425734-53426161	GM12878	blood:	n/a	n/a
3	ATF2	chr13:53424381-53425155	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr13:53424437-53425019	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr13:53425688-53426085	H1-hESC	embryonic stem cell:	n/a	chr13:53425990-53425999
6	ATF3	chr13:53425821-53426103	GM12878	blood:	n/a	chr13:53425990-53425999
7	ATF3	chr13:53425917-53426113	GM12878	blood:	n/a	chr13:53425990-53425999
8	BACH1	chr13:53424252-53426155	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr13:53420331-53420615	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr13:53423843-53424017	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr13:53421041-53421373	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr13:53422901-53423101	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr13:53425616-53426085	GM12878	blood:	n/a	n/a
14	BCL11A	chr13:53425758-53426141	GM12878	blood:	n/a	n/a
15	BCL3	chr13:53425633-53426056	GM12878	blood:	n/a	n/a
16	BCLAF1	chr13:53424824-53425198	GM12878	blood:	n/a	n/a
17	BCLAF1	chr13:53425566-53426200	GM12878	blood:	n/a	n/a
18	BHLHE40	chr13:53416535-53416831	HepG2	liver:	n/a	n/a
19	BHLHE40	chr13:53416503-53416957	HepG2	liver:	n/a	n/a
20	BHLHE40	chr13:53425833-53426006	K562	blood:	n/a	chr13:53425984-53426005 chr13:53425990-53425999 chr13:53425989-53425998 chr13:53425990-53425999 chr13:53425988-53426001
21	BHLHE40	chr13:53425592-53426437	GM12878	blood:	n/a	chr13:53425984-53426005 chr13:53425715-53425731 chr13:53425990-53425999 chr13:53425989-53425998 chr13:53425990-53425999 chr13:53425988-53426001
22	BHLHE40	chr13:53416591-53416800	HepG2	liver:	n/a	n/a
23	BHLHE40	chr13:53425784-53426159	HepG2	liver:	n/a	chr13:53425984-53426005 chr13:53425990-53425999 chr13:53425989-53425998 chr13:53425990-53425999 chr13:53425988-53426001
24	BRCA1	chr13:53413453-53413570	HepG2	liver:	n/a	n/a
25	BRCA1	chr13:53421122-53421430	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr13:53412884-53413023	HepG2	liver:	n/a	n/a
27	CEBPB	chr13:53424622-53425041	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr13:53422185-53422650	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr13:53425686-53426078	MCF-7	breast:	n/a	n/a
30	CEBPB	chr13:53425766-53426130	HepG2	liver:	n/a	n/a
31	CEBPB	chr13:53412836-53413145	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr13:53425617-53426123	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr13:53421091-53421371	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr13:53425728-53426190	MCF-7	breast:	n/a	n/a
35	CEBPB	chr13:53440794-53441010	HepG2	liver:	n/a	chr13:53440867-53440878
36	CEBPB	chr13:53425646-53426255	GM12878	blood:	n/a	n/a
37	CEBPB	chr13:53420385-53420638	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr13:53420244-53420444	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr13:53424830-53426233	H1-hESC	embryonic stem cell:	n/a	chr13:53425351-53425361
40	CHD1	chr13:53425651-53425858	GM12878	blood:	n/a	n/a
41	CHD2	chr13:53425807-53426117	GM12878	blood:	n/a	n/a
42	CHD2	chr13:53424431-53426080	H1-hESC	embryonic stem cell:	n/a	chr13:53425351-53425361
43	CHD2	chr13:53420283-53420746	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr13:53420985-53421432	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr13:53424889-53425073	GM12878	blood:	n/a	n/a
46	CHD2	chr13:53424904-53424918	HepG2	liver:	n/a	n/a
47	CHD2	chr13:53422642-53423065	H1-hESC	embryonic stem cell:	n/a	chr13:53422780-53422790
48	CREB1	chr13:53424398-53425228	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr13:53424679-53425212	HepG2	liver:	n/a	n/a
50	CREB1	chr13:53420952-53421740	H1-hESC	embryonic stem cell:	n/a	n/a

(count:2201 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:53419617-53419667	HL-60	blood:	n/a
2	chr13:53422871-53422921	HEEpiC	esophagus:	n/a
3	chr13:53420135-53420185	HepG2	liver:	n/a
4	chr13:53423262-53423312	SK-N-SH	brain:	n/a
5	chr13:53425961-53426011	AG04450	lung:	fetal
6	chr13:53419617-53419667	HL-60	blood:	n/a
7	chr13:53422871-53422921	HEEpiC	esophagus:	n/a
8	chr13:53420135-53420185	HepG2	liver:	n/a
9	chr13:53423262-53423312	SK-N-SH	brain:	n/a
10	chr13:53425961-53426011	AG04450	lung:	fetal
11	chr13:53420933-53420983	AG04449	skin:	fetal
12	chr13:53424049-53424099	ovcar-3	ovarian:	n/a
13	chr13:53424716-53424766	ProgFib	skin:	n/a
14	chr13:53422777-53422827	AG04450	lung:	fetal
15	chr13:53420425-53420475	HUVEC	blood vessel:	n/a
16	chr13:53422691-53422741	NB4	blood:	n/a
17	chr13:53423037-53423087	RPTEC	kidney:	n/a
18	chr13:53422691-53422741	Jurkat	blood:	n/a
19	chr13:53422691-53422741	SK-N-SH	brain:	n/a
20	chr13:53425635-53425685	NB4	blood:	n/a
21	chr13:53422777-53422827	AG09319	gingival:	n/a
22	chr13:53429468-53429518	HNPCEpiC	eye:	n/a
23	chr13:53422777-53422827	HIPEpiC	eye:	n/a
24	chr13:53422847-53422897	AoSMC	blood vessel:	n/a
25	chr13:53423037-53423087	T-47D	breast:	n/a
26	chr13:53422381-53422431	Hepatocyte	liver:	n/a
27	chr13:53420933-53420983	HEEpiC	esophagus:	n/a
28	chr13:53423132-53423182	AG09309	skin:	n/a
29	chr13:53422780-53422830	NHDF-neo	bronchial:	n/a
30	chr13:53422808-53422858	HMEC	breast:	n/a
31	chr13:53424716-53424766	GM12878	blood:	n/a
32	chr13:53421688-53421738	AG09309	skin:	n/a
33	chr13:53420425-53420475	CMK	blood:	n/a
34	chr13:53420425-53420475	IMR90	lung:	fetal
35	chr13:53422381-53422431	IMR90	lung:	fetal
36	chr13:53420425-53420475	LNCaP	prostate:	n/a
37	chr13:53420386-53420436	ovcar-3	ovarian:	n/a
38	chr13:53422860-53422910	NHDF-neo	bronchial:	n/a
39	chr13:53422847-53422897	LNCaP	prostate:	n/a
40	chr13:53425831-53425881	NHBE	bronchial:	n/a
41	chr13:53417692-53417742	GM06990	blood:	n/a
42	chr13:53420135-53420185	HRCEpiC	kidney:	n/a
43	chr13:53422777-53422827	NH-A	brain:	n/a
44	chr13:53425257-53425307	BE2_C	brain:	n/a
45	chr13:53425813-53425863	NHBE	bronchial:	n/a
46	chr13:53422808-53422858	GM19239	blood:	n/a
47	chr13:53423037-53423087	NT2-D1	testis:	n/a
48	chr13:53424127-53424177	NHDF-neo	bronchial:	n/a
49	chr13:53422871-53422921	BJ	skin:	n/a
50	chr13:53425961-53426011	BE2_C	brain:	n/a

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:53317860..53318834-chr13:53420019..53420858,3	MCF-7	breast:
2	chr13:53423819..53426475-chr13:53542000..53544855,3	MCF-7	breast:
3	chr13:53432415..53433397-chr7:61969357..61970027,2	MCF-7	breast:
4	chr13:53424499..53425128-chr13:53541822..53542463,2	MCF-7	breast:
5	chr13:53427306..53429529-chr13:53434457..53436275,3	MCF-7	breast:
6	chr13:53419539..53420191-chr13:53542097..53542726,2	MCF-7	breast:
7	chr13:53425388..53426892-chr13:53431589..53434414,2	MCF-7	breast:
8	chr13:53424886..53426427-chr13:53428788..53431175,2	MCF-7	breast:
9	chr13:53416128..53422445-chr13:53423052..53427915,11	MCF-7	breast:
10	chr13:53383426..53384206-chr13:53419815..53420378,2	MCF-7	breast:
11	chr13:53423777..53426647-chr13:53440227..53445526,5	MCF-7	breast:
12	chr13:53423777..53426647-chr13:53440227..53445526,5	MCF-7	breast:
13	chr13:53436613..53437297-chr13:53775140..53775836,2	MCF-7	breast:
14	chr13:53226333..53229941-chr13:53424392..53427948,4	MCF-7	breast:
15	chr13:53239189..53240278-chr13:53420342..53420888,4	MCF-7	breast:
16	chr13:53419410..53422161-chr13:53423908..53427048,5	MCF-7	breast:
17	chr13:53424477..53427390-chr13:53433560..53435155,3	MCF-7	breast:
18	chr13:53430783..53432822-chr13:53436862..53438439,2	MCF-7	breast:
19	chr13:53424748..53427468-chr13:53541401..53543631,2	MCF-7	breast:
20	chr13:53424886..53426427-chr13:53428788..53431175,2	MCF-7	breast:
21	chr13:53436203..53437284-chr13:53541893..53542828,3	MCF-7	breast:
22	chr13:53436242..53436760-chr13:53542342..53542902,2	K562	blood:
23	chr13:53225548..53228779-chr13:53423444..53428429,4	MCF-7	breast:
24	chr13:53413901..53415786-chr13:53423425..53426036,2	MCF-7	breast:
25	chr13:53226555..53228977-chr13:53419370..53422779,3	MCF-7	breast:
26	chr13:53419410..53422161-chr13:53423908..53427048,5	MCF-7	breast:
27	chr13:53424598..53426748-chr13:53456688..53458919,2	MCF-7	breast:
28	chr13:53385344..53387771-chr13:53424492..53426608,2	MCF-7	breast:
29	chr13:53416128..53422445-chr13:53423052..53427915,11	MCF-7	breast:
30	chr13:53423269..53426675-chr13:53427472..53433524,8	MCF-7	breast:
31	chr13:53427306..53429529-chr13:53434457..53436275,3	MCF-7	breast:
32	chr13:53239322..53239980-chr13:53420318..53420910,2	MCF-7	breast:
33	chr13:53430783..53432822-chr13:53436862..53438439,2	MCF-7	breast:
34	chr13:53425233..53426207-chr13:53541827..53542911,3	MCF-7	breast:
35	chr13:53225538..53227071-chr13:53417980..53420315,2	MCF-7	breast:
36	chr13:53423269..53426675-chr13:53427472..53433524,8	MCF-7	breast:
37	chr13:53425388..53426892-chr13:53431589..53434414,2	MCF-7	breast:
38	chr13:53424477..53427390-chr13:53433560..53435155,3	MCF-7	breast:
39	chr13:53237822..53239845-chr13:53418461..53420570,2	MCF-7	breast:
40	chr13:53413901..53415786-chr13:53423425..53426036,2	MCF-7	breast:
41	chr13:53436129..53437138-chr13:53725658..53726672,3	MCF-7	breast:
42	chr13:53433491..53436451-chr13:53545366..53547312,2	MCF-7	breast:
43	chr13:53422829..53424558-chr13:53771804..53774307,2	MCF-7	breast:
44	chr13:53436198..53437192-chr13:53541905..53542851,4	MCF-7	breast:
45	chr13:53426133..53429015-chr13:53553120..53555019,2	MCF-7	breast:
46	chr13:53189284..53191816-chr13:53423878..53426423,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PCDH8	hsa-miR-200a-3p	chr13:53418620-53418644
2	PCDH8	hsa-miR-200a-3p	chr13:53418431-53418452

Variant related genes	Relation type
PCDH8	TF binding region
PCDH8	CpG island
ENSG00000139675	chromatin interactions
ENSG00000250299	chromatin interactions
ENSG00000211579	chromatin interactions
ENSG00000165416	chromatin interactions
ENSG00000225510	chromatin interactions
ENSG00000237092	chromatin interactions

Extended variants
information (count: 978 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:978 , 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	rs1274576	chr13:53412849-53412850	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs148286544	chr13:53412895-53412896	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs141580732	chr13:53412897-53412898	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs558905535	chr13:53412900-53412901	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs56978466	chr13:53412950-53412951	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs547979919	chr13:53413034-53413035	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs182622991	chr13:53413118-53413119	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs186202150	chr13:53413303-53413304	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs191830105	chr13:53413305-53413306	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs571131949	chr13:53413309-53413310	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs532853003	chr13:53413317-53413318	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs540152531	chr13:53413326-53413327	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs553729957	chr13:53413327-53413328	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs573271203	chr13:53413343-53413344	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs201512137	chr13:53413352-53413353	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs199950042	chr13:53413356-53413357	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs116018239	chr13:53413361-53413362	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs555537441	chr13:53413407-53413408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560573010	chr13:53413421-53413422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7337857	chr13:53413435-53413436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs476136	chr13:53413498-53413499	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs150915598	chr13:53413546-53413547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369372199	chr13:53413550-53413551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139408975	chr13:53413571-53413572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184060949	chr13:53413618-53413619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74616504	chr13:53413645-53413646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528066862	chr13:53413648-53413649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150043271	chr13:53413713-53413714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535936280	chr13:53413760-53413761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1274574	chr13:53413761-53413762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs548920973	chr13:53413846-53413847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs649013	chr13:53413890-53413891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551160676	chr13:53413902-53413903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569107200	chr13:53413903-53413904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533614016	chr13:53413907-53413908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547305233	chr13:53413919-53413920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139577584	chr13:53413941-53413942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145105028	chr13:53413943-53413944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375373311	chr13:53413973-53413974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188891810	chr13:53413996-53413997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374468145	chr13:53413998-53413999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569217619	chr13:53413999-53414000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538317760	chr13:53414041-53414042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570900137	chr13:53414052-53414053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61096210	chr13:53414068-53414069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201787698	chr13:53414074-53414075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73190572	chr13:53414078-53414079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141858008	chr13:53414079-53414080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397956873	chr13:53414081-53414082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377757962	chr13:53414096-53414097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	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
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:892 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53408800-53413000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:53409200-53418800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:53410000-53415800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:53412000-53413200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr13:53412000-53413400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr13:53412200-53413200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr13:53412200-53413400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr13:53412200-53413400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr13:53412200-53413400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:53412400-53413400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:53412600-53413200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:53412600-53413200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:53412600-53413200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr13:53412600-53413200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr13:53412600-53413200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr13:53412600-53413400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr13:53412600-53413400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr13:53412800-53413000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr13:53412800-53413400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
20	chr13:53413000-53413200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr13:53413000-53413400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:53413200-53413400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
23	chr13:53413200-53414800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr13:53413200-53418800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr13:53413200-53419200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr13:53413400-53416400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:53414800-53416600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr13:53415800-53416000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:53416000-53416400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:53416000-53418800	Weak transcription	Pancreas	Pancrea
31	chr13:53416400-53416800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr13:53416400-53417200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:53416400-53417200	Bivalent Enhancer	Brain Germinal Matrix	brain
34	chr13:53416400-53417800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr13:53416600-53416800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr13:53416600-53416800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:53416600-53416800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:53416600-53416800	Bivalent Enhancer	Fetal Brain Male	brain
39	chr13:53416600-53417200	Enhancers	HepG2	liver
40	chr13:53416800-53417000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr13:53416800-53418600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr13:53417000-53417200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr13:53417000-53417200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr13:53417000-53417600	Enhancers	Fetal Brain Female	brain
45	chr13:53417200-53417600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:53417200-53418600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr13:53417600-53418400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:53417800-53418600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr13:53418400-53422400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr13:53418600-53419200	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links