Variant report

Variant	nsv526943
Chromosome Location	chr13:110393477-110421884
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:673)
CpG islands
(count:610)
Chromatin interactive
region (count:26)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:14)

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:110397995-110398195	K562	blood:	n/a	n/a
2	BACH1	chr13:110396759-110396788	K562	blood:	n/a	n/a
3	BHLHE40	chr13:110398001-110398401	K562	blood:	n/a	n/a
4	BHLHE40	chr13:110396833-110397222	K562	blood:	n/a	n/a
5	BRCA1	chr13:110396047-110396342	Hela-S3	cervix:	n/a	n/a
6	BRCA1	chr13:110421281-110421331	Hela-S3	cervix:	n/a	n/a
7	CCNT2	chr13:110398048-110398349	K562	blood:	n/a	n/a
8	CCNT2	chr13:110398867-110399149	K562	blood:	n/a	n/a
9	CEBPB	chr13:110409254-110409347	A549	lung:	n/a	chr13:110409281-110409294
10	CEBPB	chr13:110414405-110414539	K562	blood:	n/a	n/a
11	CEBPB	chr13:110409247-110409324	H1-hESC	embryonic stem cell:	n/a	chr13:110409281-110409294
12	CEBPD	chr13:110397981-110398358	K562	blood:	n/a	n/a
13	CEBPD	chr13:110397910-110398316	K562	blood:	n/a	n/a
14	CHD2	chr13:110396095-110396420	Hela-S3	cervix:	n/a	n/a
15	CREB1	chr13:110396115-110396370	A549	lung:	n/a	n/a
16	CTCF	chr13:110417380-110417530	SK-N-SH_RA	brain:	n/a	chr13:110417467-110417488 chr13:110417465-110417483
17	CTCF	chr13:110417393-110417512	GM12891	blood:	n/a	chr13:110417467-110417488 chr13:110417465-110417483
18	CTCF	chr13:110417380-110417530	SAEC	small airway:	n/a	chr13:110417467-110417488 chr13:110417465-110417483
19	CTCF	chr13:110417400-110417550	HPAF	blood vessel:	n/a	chr13:110417467-110417488 chr13:110417465-110417483
20	CTCF	chr13:110417400-110417550	HBMEC	blood vessel:	n/a	chr13:110417467-110417488 chr13:110417465-110417483
21	CTCF	chr13:110417380-110417530	WERI-Rb-1	eye:	n/a	chr13:110417467-110417488 chr13:110417465-110417483
22	CTCF	chr13:110417397-110417509	GM12892	blood:	n/a	chr13:110417467-110417488 chr13:110417465-110417483
23	CTCF	chr13:110417388-110417565	Kidney_OC	kidney:	n/a	chr13:110417467-110417488 chr13:110417465-110417483
24	CTCF	chr13:110417400-110417550	SK-N-SH_RA	brain:	n/a	chr13:110417467-110417488 chr13:110417465-110417483
25	CTCF	chr13:110417380-110417530	HL-60	blood:	n/a	chr13:110417467-110417488 chr13:110417465-110417483
26	CTCF	chr13:110399900-110400050	RPTEC	kidney:	n/a	n/a
27	CTCF	chr13:110417380-110417530	GM12866	blood:	n/a	chr13:110417467-110417488 chr13:110417465-110417483
28	CTCF	chr13:110400000-110400150	AG10803	skin:	n/a	n/a
29	CTCF	chr13:110399984-110400168	Gliobla	brain:	n/a	n/a
30	CTCF	chr13:110417301-110417623	GM12878	blood:	n/a	chr13:110417467-110417488 chr13:110417465-110417483
31	CTCF	chr13:110417400-110417550	HA-sp	spinal cord:	n/a	chr13:110417467-110417488 chr13:110417465-110417483
32	CTCF	chr13:110417460-110417610	HepG2	liver:	n/a	chr13:110417467-110417488 chr13:110417465-110417483
33	CTCF	chr13:110399840-110399990	BJ	skin:	n/a	n/a
34	CTCF	chr13:110417457-110417478	Spleen_OC	spleen:	n/a	n/a
35	CTCF	chr13:110396440-110396590	HRPEpiC	eye:	n/a	chr13:110396526-110396539
36	CTCF	chr13:110417400-110417550	BE2_C	brain:	n/a	chr13:110417467-110417488 chr13:110417465-110417483
37	CTCF	chr13:110400000-110400150	HEK293	kidney:	n/a	n/a
38	CTCF	chr13:110396460-110396610	HPF	lung:	n/a	chr13:110396526-110396539
39	CTCF	chr13:110400040-110400190	HRE	kidney:	n/a	n/a
40	CTCF	chr13:110400040-110400190	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr13:110399980-110400130	K562	blood:	n/a	n/a
42	CTCF	chr13:110396380-110396530	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr13:110417480-110417630	BJ	skin:	n/a	n/a
44	CTCF	chr13:110396580-110396730	HCM	heart:	n/a	n/a
45	CTCF	chr13:110401747-110401778	Kidney_OC	kidney:	n/a	n/a
46	CTCF	chr13:110417362-110417545	MCF-7	breast:	n/a	chr13:110417467-110417488 chr13:110417465-110417483
47	CTCF	chr13:110417340-110417490	A549	lung:	n/a	chr13:110417467-110417488 chr13:110417465-110417483
48	CTCF	chr13:110399960-110400110	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr13:110417420-110417570	GM12868	blood:	n/a	chr13:110417467-110417488 chr13:110417465-110417483
50	CTCF	chr13:110399900-110400050	HEEpiC	esophagus:	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	chr13:110412178-110412228	AG10803	skin:	n/a
2	chr13:110408127-110408177	HMEC	breast:	n/a
3	chr13:110396942-110396992	Jurkat	blood:	n/a
4	chr13:110408127-110408177	Hepatocyte	liver:	n/a
5	chr13:110396942-110396992	MCF10A-Er-Src	breast:	n/a
6	chr13:110397189-110397239	AG10803	skin:	n/a
7	chr13:110408042-110408092	HAEpiC	amniotic membrane:	n/a
8	chr13:110398188-110398238	GM19239	blood:	n/a
9	chr13:110407356-110407406	LNCaP	prostate:	n/a
10	chr13:110398142-110398192	HCM	heart:	n/a
11	chr13:110397643-110397693	SK-N-SH	brain:	n/a
12	chr13:110396942-110396992	AoSMC	blood vessel:	n/a
13	chr13:110397189-110397239	BE2_C	brain:	n/a
14	chr13:110412178-110412228	K562	blood:	n/a
15	chr13:110408127-110408177	HRE	kidney:	n/a
16	chr13:110398142-110398192	GM12878	blood:	n/a
17	chr13:110396942-110396992	H1-hESC	embryonic stem cell:	embryo
18	chr13:110408127-110408177	Hela-S3	cervix:	n/a
19	chr13:110398188-110398238	SK-N-MC	brain:	n/a
20	chr13:110397189-110397239	SK-N-SH	brain:	n/a
21	chr13:110398142-110398192	HMEC	breast:	n/a
22	chr13:110398293-110398343	GM12892	blood:	n/a
23	chr13:110412178-110412228	T-47D	breast:	n/a
24	chr13:110398188-110398238	HCPEpiC	choroid plexus:	n/a
25	chr13:110397643-110397693	ovcar-3	ovarian:	n/a
26	chr13:110408127-110408177	SK-N-SH_RA	brain:	n/a
27	chr13:110397643-110397693	NHBE	bronchial:	n/a
28	chr13:110408042-110408092	AG04450	lung:	fetal
29	chr13:110408042-110408092	HPAEpiC	pulmonary alveolar:	n/a
30	chr13:110396942-110396992	HRCEpiC	kidney:	n/a
31	chr13:110398188-110398238	HUVEC	blood vessel:	n/a
32	chr13:110407356-110407406	HIPEpiC	eye:	n/a
33	chr13:110396942-110396992	HPAEpiC	pulmonary alveolar:	n/a
34	chr13:110398293-110398343	HIPEpiC	eye:	n/a
35	chr13:110398188-110398238	GM12891	blood:	n/a
36	chr13:110396942-110396992	HEK293	kidney:	embryo
37	chr13:110408042-110408092	GM12892	blood:	n/a
38	chr13:110398293-110398343	Jurkat	blood:	n/a
39	chr13:110397643-110397693	NB4	blood:	n/a
40	chr13:110397189-110397239	H1-hESC	embryonic stem cell:	embryo
41	chr13:110412178-110412228	HPAEpiC	pulmonary alveolar:	n/a
42	chr13:110412178-110412228	GM12891	blood:	n/a
43	chr13:110412178-110412228	BJ	skin:	n/a
44	chr13:110408127-110408177	GM12878	blood:	n/a
45	chr13:110398293-110398343	IMR90	lung:	fetal
46	chr13:110397643-110397693	K562	blood:	n/a
47	chr13:110407356-110407406	Jurkat	blood:	n/a
48	chr13:110397189-110397239	NB4	blood:	n/a
49	chr13:110396942-110396992	AG04449	skin:	fetal
50	chr13:110396942-110396992	HMEC	breast:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:110411444..110413662-chr13:110413708..110416940,3	K562	blood:
2	chr13:110395852..110397862-chr13:110423883..110426288,2	K562	blood:
3	chr13:109571569..109572240-chr13:110395804..110396331,2	MCF-7	breast:
4	chr13:110399706..110404328-chr13:110411393..110414507,4	K562	blood:
5	chr13:110417399..110417917-chr13:110760942..110761494,2	MCF-7	breast:
6	chr13:110421344..110422045-chr7:139043990..139044984,2	Hela-S3	cervix:
7	chr13:110410515..110416415-chr13:110436559..110440960,7	K562	blood:
8	chr13:110228282..110229151-chr13:110395790..110396755,3	MCF-7	breast:
9	chr13:110401184..110404328-chr13:110411393..110413977,3	K562	blood:
10	chr13:110396337..110398183-chr13:110402422..110404262,2	MCF-7	breast:
11	chr13:110404473..110407455-chr13:110429957..110432658,3	K562	blood:
12	chr13:110391823..110394332-chr13:110394549..110396168,2	K562	blood:
13	chr13:110411444..110413662-chr13:110413708..110416940,3	K562	blood:
14	chr13:110414170..110416819-chr13:110432906..110435378,2	K562	blood:
15	chr13:110421522..110423213-chr13:110437049..110440164,3	K562	blood:
16	chr13:110396337..110398183-chr13:110402422..110404262,2	MCF-7	breast:
17	chr13:110397775..110399986-chr13:110436393..110438798,2	MCF-7	breast:
18	chr13:110391823..110394332-chr13:110394549..110396168,2	K562	blood:
19	chr13:110403771..110406116-chr13:110433660..110436383,2	K562	blood:
20	chr13:109797722..109798519-chr13:110399591..110400124,2	MCF-7	breast:
21	chr13:110394415..110400324-chr13:110434969..110439511,6	K562	blood:
22	chr13:110410426..110416204-chr13:110437300..110441341,7	K562	blood:
23	chr13:110399706..110404328-chr13:110411393..110414507,4	K562	blood:
24	chr13:110413885..110415752-chr13:110436312..110438893,2	MCF-7	breast:
25	chr13:110401184..110404328-chr13:110411393..110413977,3	K562	blood:
26	chr13:110394415..110400589-chr13:110436285..110439325,5	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL4A1-5	chr13:110417658-110418068	NONHSAT035118
2	lnc-COL4A1-5	chr13:110419156-110419178	NONHSAT035118
3	lnc-COL4A1-6	chr13:110407168-110407615	NONHSAT035117
4	lnc-COL4A1-5	chr13:110418461-110418469	NONHSAT035118

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	IRS2	hsa-miR-7-5p	chr13:110407056-110407080
2	IRS2	hsa-miR-98-5p	chr13:110408197-110408190
3	IRS2	hsa-miR-33a-5p	chr13:110407072-110407065
4	IRS2	hsa-miR-7-5p	chr13:110407062-110407056
5	IRS2	hsa-miR-374b-5p	chr13:110407937-110407958
6	IRS2	hsa-miR-145-5p	chr13:110406278-110406300
7	IRS2	hsa-let-7b-5p	chr13:110408191-110408210
8	IRS2	hsa-miR-7-5p	chr13:110406337-110406361
9	IRS2	hsa-miR-33a-5p	chr13:110407066-110407086
10	IRS2	hsa-let-7b-5p	chr13:110408197-110408190
11	IRS2	hsa-miR-98-5p	chr13:110408191-110408216
12	IRS2	hsa-let-7e-5p	chr13:110408191-110408216
13	IRS2	hsa-let-7e-5p	chr13:110408197-110408190
14	IRS2	hsa-miR-7-5p	chr13:110406343-110406336

Variant related genes	Relation type
ENSG00000255813	TF binding region
ENSG00000255813	CpG island
ENSG00000185950	chromatin interactions
ENSG00000146963	chromatin interactions
ENSG00000273391	chromatin interactions

Extended variants
information (count: 1103 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1103 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4771640	chr13:110393477-110393478	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536327760	chr13:110393517-110393518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527655162	chr13:110393551-110393552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576241406	chr13:110393566-110393567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143954654	chr13:110393569-110393570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545009195	chr13:110393582-110393583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73606250	chr13:110393613-110393614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189856626	chr13:110393649-110393650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs920008	chr13:110393650-110393651	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs139831085	chr13:110393654-110393655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369589921	chr13:110393663-110393664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4771641	chr13:110393693-110393694	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs182123006	chr13:110393710-110393711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531738970	chr13:110393719-110393720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1550045	chr13:110393778-110393779	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs188047818	chr13:110393793-110393794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548862555	chr13:110393814-110393815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145456147	chr13:110393817-110393818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113086491	chr13:110393871-110393872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142554068	chr13:110393876-110393877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193092296	chr13:110393881-110393882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556436295	chr13:110393894-110393895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113236650	chr13:110393950-110393951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538737930	chr13:110393951-110393952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534125674	chr13:110393961-110393962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386774629	chr13:110393966-110393967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4771642	chr13:110393967-110393968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs183771089	chr13:110393990-110393991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7332459	chr13:110393999-110394000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs369901069	chr13:110394002-110394003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115135518	chr13:110394076-110394077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542811146	chr13:110394085-110394086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539571629	chr13:110394106-110394107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114108391	chr13:110394116-110394117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9555629	chr13:110394140-110394141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs150253556	chr13:110394215-110394216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565257071	chr13:110394292-110394293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541093428	chr13:110394344-110394345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115778306	chr13:110394352-110394353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs193035932	chr13:110394401-110394402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184059829	chr13:110394422-110394423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs549953530	chr13:110394424-110394425	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs569872759	chr13:110394484-110394485	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs116200549	chr13:110394509-110394510	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs188372951	chr13:110394550-110394551	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs145800603	chr13:110394560-110394561	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs78330541	chr13:110394580-110394581	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs554589293	chr13:110394622-110394623	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs374824298	chr13:110394636-110394637	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs528624743	chr13:110394644-110394645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Cancer	20164919	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
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1109 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110386000-110396200	Weak transcription	Gastric	stomach
2	chr13:110389000-110395600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr13:110390200-110396600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:110390200-110396800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:110390400-110396200	Weak transcription	Brain Hippocampus Middle	brain
6	chr13:110390400-110396400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr13:110390600-110395600	Weak transcription	Dnd41	blood
8	chr13:110390600-110396000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr13:110390600-110396400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:110390800-110402200	Weak transcription	HSMM	muscle
11	chr13:110391000-110395800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:110391000-110396000	Weak transcription	Fetal Heart	heart
13	chr13:110391000-110396400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:110391200-110395600	Weak transcription	Placenta	Placenta
15	chr13:110391200-110402600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr13:110391200-110404400	Weak transcription	HSMMtube	muscle
17	chr13:110391800-110395400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr13:110391800-110395400	Weak transcription	HMEC	breast
19	chr13:110392200-110396200	Weak transcription	Fetal Brain Male	brain
20	chr13:110392600-110393800	Enhancers	Spleen	Spleen
21	chr13:110392800-110396200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr13:110392800-110396200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr13:110393200-110395400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr13:110393200-110395400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr13:110393200-110395600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr13:110393200-110395800	Weak transcription	HUVEC	blood vessel
27	chr13:110393200-110396600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr13:110393400-110395400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr13:110393800-110396400	Weak transcription	Spleen	Spleen
30	chr13:110394200-110394400	Enhancers	Lung	lung
31	chr13:110394400-110396800	Weak transcription	Lung	lung
32	chr13:110395200-110395600	Enhancers	Liver	Liver
33	chr13:110395200-110397200	Enhancers	Duodenum Mucosa	Duodenum
34	chr13:110395200-110397400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr13:110395400-110395600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr13:110395400-110396000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr13:110395400-110396200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr13:110395400-110396600	Enhancers	NHEK	skin
39	chr13:110395400-110397000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr13:110395400-110397400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr13:110395400-110397400	Enhancers	HMEC	breast
42	chr13:110395600-110395800	Enhancers	Primary hematopoietic stem cells	blood
43	chr13:110395600-110395800	Enhancers	Colonic Mucosa	Colon
44	chr13:110395600-110395800	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr13:110395600-110396000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr13:110395600-110396200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr13:110395600-110396200	Enhancers	A549	lung
48	chr13:110395600-110396200	Enhancers	Dnd41	blood
49	chr13:110395600-110396200	Enhancers	Hela-S3	cervix
50	chr13:110395600-110396800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links