Variant report

Variant	nsv832946
Chromosome Location	chr15:30318810-30507542
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr15:30396041-30396079	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr15:30318705-30318959	K562	blood:	n/a	n/a
3	BATF	chr15:30412052-30412331	GM12878	blood:	n/a	n/a
4	BATF	chr15:30428014-30428211	GM12878	blood:	n/a	n/a
5	BATF	chr15:30459001-30459247	GM12878	blood:	n/a	n/a
6	BATF	chr15:30442191-30442458	GM12878	blood:	n/a	n/a
7	BATF	chr15:30411972-30412280	GM12878	blood:	n/a	n/a
8	BATF	chr15:30389801-30390448	GM12878	blood:	n/a	n/a
9	BATF	chr15:30458984-30459268	GM12878	blood:	n/a	n/a
10	BATF	chr15:30411642-30411805	GM12878	blood:	n/a	n/a
11	BATF	chr15:30402631-30402999	GM12878	blood:	n/a	chr15:30402836-30402847 chr15:30402837-30402847 chr15:30402841-30402851
12	BATF	chr15:30402704-30403029	GM12878	blood:	n/a	chr15:30402836-30402847 chr15:30402837-30402847 chr15:30402841-30402851
13	BCL11A	chr15:30402651-30402946	GM12878	blood:	n/a	chr15:30402839-30402848 chr15:30402794-30402803
14	BCL11A	chr15:30389938-30390215	GM12878	blood:	n/a	n/a
15	BCL11A	chr15:30441259-30441499	GM12878	blood:	n/a	n/a
16	BCL11A	chr15:30465220-30465511	GM12878	blood:	n/a	n/a
17	BCL11A	chr15:30402711-30402962	GM12878	blood:	n/a	chr15:30402839-30402848 chr15:30402794-30402803
18	BCL11A	chr15:30411977-30412278	GM12878	blood:	n/a	n/a
19	BCL11A	chr15:30390006-30390348	GM12878	blood:	n/a	chr15:30390232-30390245
20	BCL11A	chr15:30469390-30469696	GM12878	blood:	n/a	n/a
21	BHLHE40	chr15:30348379-30348447	K562	blood:	n/a	n/a
22	BRCA1	chr15:30333944-30334068	GM12878	blood:	n/a	n/a
23	CEBPB	chr15:30422283-30422484	IMR90	lung:	n/a	chr15:30422424-30422435
24	CEBPB	chr15:30422222-30422557	K562	blood:	n/a	chr15:30422424-30422435
25	CEBPB	chr15:30357423-30357772	H1-hESC	embryonic stem cell:	n/a	chr15:30357588-30357599 chr15:30357569-30357581
26	CEBPB	chr15:30357417-30357754	HepG2	liver:	n/a	chr15:30357588-30357599 chr15:30357569-30357581
27	CEBPB	chr15:30357425-30357791	IMR90	lung:	n/a	chr15:30357588-30357599 chr15:30357569-30357581
28	CEBPB	chr15:30422311-30422460	Hela-S3	cervix:	n/a	chr15:30422424-30422435
29	CEBPB	chr15:30488906-30489076	IMR90	lung:	n/a	n/a
30	CEBPB	chr15:30357281-30357870	A549	lung:	n/a	chr15:30357588-30357599 chr15:30357569-30357581
31	CEBPB	chr15:30422311-30422503	A549	lung:	n/a	chr15:30422424-30422435
32	CEBPB	chr15:30331155-30331602	Hela-S3	cervix:	n/a	chr15:30331295-30331307
33	CEBPB	chr15:30422303-30422505	H1-hESC	embryonic stem cell:	n/a	chr15:30422424-30422435
34	CEBPB	chr15:30324857-30325057	HepG2	liver:	n/a	chr15:30324984-30324995
35	CEBPB	chr15:30357402-30357757	A549	lung:	n/a	chr15:30357588-30357599 chr15:30357569-30357581
36	CEBPB	chr15:30373008-30373220	A549	lung:	n/a	n/a
37	CEBPB	chr15:30357445-30357725	A549	lung:	n/a	chr15:30357588-30357599 chr15:30357569-30357581
38	CEBPB	chr15:30357266-30357793	Hela-S3	cervix:	n/a	chr15:30357588-30357599 chr15:30357569-30357581
39	CEBPB	chr15:30320812-30320869	A549	lung:	n/a	n/a
40	CEBPB	chr15:30343011-30343208	HepG2	liver:	n/a	n/a
41	CEBPB	chr15:30357467-30357767	K562	blood:	n/a	chr15:30357588-30357599 chr15:30357569-30357581
42	CEBPB	chr15:30422277-30422508	K562	blood:	n/a	chr15:30422424-30422435
43	CHD1	chr15:30335445-30335601	GM12878	blood:	n/a	n/a
44	CHD1	chr15:30320265-30320466	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD1	chr15:30347814-30348022	GM12878	blood:	n/a	n/a
46	CHD1	chr15:30330953-30331153	GM12878	blood:	n/a	n/a
47	CHD2	chr15:30331324-30331787	Hela-S3	cervix:	n/a	n/a
48	CHD2	chr15:30465233-30465388	GM12878	blood:	n/a	n/a
49	CTCF	chr15:30396000-30396150	HPF	lung:	n/a	chr15:30396032-30396041 chr15:30396083-30396096 chr15:30396028-30396041 chr15:30396028-30396041
50	CTCF	chr15:30442208-30442485	GM20000	blood:	n/a	chr15:30442259-30442268 chr15:30442337-30442347 chr15:30442340-30442349 chr15:30442329-30442350 chr15:30442334-30442352 chr15:30442335-30442351 chr15:30442336-30442349

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:30484033-30484083	HepG2	liver:	n/a
2	chr15:30337018-30337068	HPAEpiC	pulmonary alveolar:	n/a
3	chr15:30484033-30484083	HepG2	liver:	n/a
4	chr15:30337018-30337068	HPAEpiC	pulmonary alveolar:	n/a
5	chr15:30484753-30484803	SK-N-SH	brain:	n/a
6	chr15:30336940-30336990	SK-N-SH_RA	brain:	n/a
7	chr15:30366335-30366385	IMR90	lung:	fetal
8	chr15:30337875-30337925	SKMC	muscle:	n/a
9	chr15:30435199-30435249	Hela-S3	cervix:	n/a
10	chr15:30486767-30486817	AG09309	skin:	n/a
11	chr15:30484753-30484803	MCF10A-Er-Src	breast:	n/a
12	chr15:30396121-30396171	A549	lung:	n/a
13	chr15:30336915-30336965	Hepatocyte	liver:	n/a
14	chr15:30486767-30486817	Hela-S3	cervix:	n/a
15	chr15:30336915-30336965	GM19239	blood:	n/a
16	chr15:30365409-30365459	H1-hESC	embryonic stem cell:	embryo
17	chr15:30484033-30484083	HUVEC	blood vessel:	n/a
18	chr15:30337018-30337068	LNCaP	prostate:	n/a
19	chr15:30333911-30333961	K562	blood:	n/a
20	chr15:30484033-30484083	MCF-7	breast:	n/a
21	chr15:30489014-30489064	HIPEpiC	eye:	n/a
22	chr15:30484753-30484803	HAEpiC	amniotic membrane:	n/a
23	chr15:30435199-30435249	BE2_C	brain:	n/a
24	chr15:30482157-30482207	T-47D	breast:	n/a
25	chr15:30486767-30486817	HL-60	blood:	n/a
26	chr15:30396121-30396171	AG09319	gingival:	n/a
27	chr15:30396500-30396550	NHBE	bronchial:	n/a
28	chr15:30337018-30337068	HRCEpiC	kidney:	n/a
29	chr15:30339875-30339925	AG04449	skin:	fetal
30	chr15:30337875-30337925	HL-60	blood:	n/a
31	chr15:30396500-30396550	PrEC	prostate:	n/a
32	chr15:30487914-30487964	AG04449	skin:	fetal
33	chr15:30337875-30337925	AG10803	skin:	n/a
34	chr15:30489014-30489064	AG09309	skin:	n/a
35	chr15:30483519-30483569	Hepatocyte	liver:	n/a
36	chr15:30365409-30365459	AG09319	gingival:	n/a
37	chr15:30483647-30483697	SK-N-SH	brain:	n/a
38	chr15:30339875-30339925	HRCEpiC	kidney:	n/a
39	chr15:30487914-30487964	HL-60	blood:	n/a
40	chr15:30336915-30336965	HCM	heart:	n/a
41	chr15:30482157-30482207	ovcar-3	ovarian:	n/a
42	chr15:30337018-30337068	HNPCEpiC	eye:	n/a
43	chr15:30486767-30486817	NB4	blood:	n/a
44	chr15:30484753-30484803	AoSMC	blood vessel:	n/a
45	chr15:30489014-30489064	SK-N-SH_RA	brain:	n/a
46	chr15:30482157-30482207	NH-A	brain:	n/a
47	chr15:30482157-30482207	Hepatocyte	liver:	n/a
48	chr15:30337366-30337416	HEK293	kidney:	embryo
49	chr15:30486767-30486817	LNCaP	prostate:	n/a
50	chr15:30484753-30484803	GM12892	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:30359405..30361703-chr15:30365403..30368382,2	MCF-7	breast:
2	chr15:30234111..30234981-chr15:30322295..30322806,2	MCF-7	breast:
3	chr15:29959926..29960944-chr15:30367131..30368208,4	K562	blood:
4	chr15:30039724..30040629-chr15:30367249..30368123,2	K562	blood:
5	chr15:29960081..29960738-chr15:30322588..30323155,2	MCF-7	breast:
6	chr15:30232675..30233456-chr15:30322159..30323009,2	MCF-7	breast:
7	chr15:30359405..30361703-chr15:30365403..30368382,2	MCF-7	breast:
8	chr15:30234442..30235027-chr15:30335180..30335724,2	MCF-7	breast:
9	chr15:30233133..30233805-chr15:30367233..30367920,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP5-1086D14.3.1-1	chr15:30502611-30503009	ENSG00000225930.2
2	lnc-CHRFAM7A-1	chr15:30471212-30471332	ENSG00000259906.1
3	lnc-CHRFAM7A-1	chr15:30471079-30472146	ENSG00000259906.1
4	lnc-RP5-1086D14.3.1-1	chr15:30488239-30488317	ENSG00000225930.2
5	lnc-RP5-1086D14.3.1-1	chr15:30502620-30504471	ENSG00000225930.2
6	lnc-RP5-1086D14.3.1-1	chr15:30502620-30506743	ENSG00000225930.3
7	lnc-AC120045.3-2	chr15:30435925-30436203	NONHSAT041332
8	lnc-CHRFAM7A-1	chr15:30462766-30462831	ENSG00000259906.1
9	lnc-AC120045.3-4	chr15:30383854-30384132	NONHSAT041327
10	lnc-TJP1-1	chr15:30337914-30338051	ENSG00000259647.1
11	lnc-RP5-1086D14.3.1-1	chr15:30491478-30491534	ENSG00000225930.2
12	lnc-RP5-1086D14.3.1-1	chr15:30488239-30488317	ENSG00000225930.3
13	lnc-RP5-1086D14.3.1-1	chr15:30491478-30491534	ENSG00000225930.3
14	lnc-CHRFAM7A-1	chr15:30462912-30462975	ENSG00000259906.1

Variant related genes	Relation type
ENSG00000207432	TF binding region
RN7SL673P	TF binding region
ENSG00000259647	TF binding region
GOLGA8T	TF binding region
ULK4P3	TF binding region
DNM1P30	TF binding region
ENSG00000259906	TF binding region
RN7SL469P	TF binding region
ENSG00000229389	TF binding region
GOLGA8J	TF binding region
DNM1P28	TF binding region
ENSG00000225930	TF binding region
ENSG00000260174	TF binding region
ENSG00000221785	TF binding region
ENSG00000261747	TF binding region
ENSG00000221250	TF binding region
ENSG00000207432	CpG island
RN7SL673P	CpG island
ENSG00000259647	CpG island
GOLGA8T	CpG island
ULK4P3	CpG island
DNM1P30	CpG island
ENSG00000259906	CpG island
RN7SL469P	CpG island
ENSG00000229389	CpG island
GOLGA8J	CpG island
DNM1P28	CpG island
ENSG00000225930	CpG island
ENSG00000260174	CpG island
ENSG00000221785	CpG island
ENSG00000261747	CpG island
ENSG00000221250	CpG island

Extended variants
information (count: 2584 )
Associated
traits (count: 147 )

Variant overlapped rSNPs/rCNVs (count:2584 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116338996	chr15:30318828-30318829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536523705	chr15:30318852-30318853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181470412	chr15:30318890-30318891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570762010	chr15:30318913-30318914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141458847	chr15:30318922-30318923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546785097	chr15:30318931-30318932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566640666	chr15:30318957-30318958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573668686	chr15:30318990-30318991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535147570	chr15:30319000-30319001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555128607	chr15:30319038-30319039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369166291	chr15:30319070-30319071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574972816	chr15:30319096-30319097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537494383	chr15:30319155-30319156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147199479	chr15:30319197-30319198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79741110	chr15:30319257-30319258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138824411	chr15:30319276-30319277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559535499	chr15:30319299-30319300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573070655	chr15:30319327-30319328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4470122	chr15:30319352-30319353	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs142784336	chr15:30319354-30319355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574515810	chr15:30319360-30319361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530510101	chr15:30319400-30319401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147432226	chr15:30319411-30319412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563887511	chr15:30319412-30319413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186415934	chr15:30319427-30319428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559524797	chr15:30319434-30319435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546891162	chr15:30319441-30319442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs8032489	chr15:30319442-30319443	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs117345051	chr15:30319491-30319492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549191136	chr15:30319492-30319493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568618206	chr15:30319505-30319506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537103153	chr15:30319626-30319627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557333183	chr15:30319668-30319669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370790348	chr15:30319688-30319689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147483882	chr15:30319690-30319691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540620272	chr15:30319779-30319780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76192306	chr15:30319793-30319794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540147031	chr15:30319814-30319815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192367809	chr15:30319818-30319819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530302182	chr15:30319819-30319820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573182062	chr15:30319825-30319826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181919131	chr15:30319843-30319844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555535302	chr15:30319861-30319862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545154324	chr15:30319869-30319870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186109838	chr15:30319960-30319961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115275740	chr15:30319970-30319971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560073561	chr15:30319975-30319976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190737629	chr15:30319991-30319992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564134171	chr15:30319995-30319996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532819754	chr15:30319997-30319998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:147)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prader-willi syndrome	21504564	CNVD
The inv dup or idic syndrome	19019226	CNVD
Prader-willi syndrome	21233802	CNVD
Angelman syndrome	16617304	CNVD
Angelman syndrome	20970697	CNVD
Autism	22958593	CNVD
Prader-willi syndrome	16617304	CNVD
Prader-willi syndrome	18923514	CNVD
Prader-willi syndrome	20970697	CNVD
Angelman syndrome	16183798	CNVD
Angelman syndrome	18923514	CNVD
Prader-willi syndrome	22241247	CNVD
Epilepsy	20970697	CNVD
Autism	20970697	CNVD
Autism	19935738	CNVD
Autism	22930557	CNVD
Autism	19966786	CNVD
Autism	18923514	CNVD
Autism	18925931	CNVD
Autism	18835857	CNVD
Prader-willi syndrome	18835857	CNVD
Prader-willi syndrome	22152151	CNVD
Autism	22241247	CNVD
15q-syndrome	21725066	CNVD
Prader-willi syndrome	21503198	CNVD
Autism	21956041	CNVD
Prader-willi syndrome	16760730	CNVD
Prader-willi syndrome	22470819	CNVD
prenatal diagnosis	20453657	CNVD
Prader-willi syndrome	17867985	CNVD
Angelman syndrome	21072004	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Prader-willi syndrome	18781185	CNVD
Melanoma	18172304	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Angelman syndrome	18787571	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Abnormal corpus callosum	21572526	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Autism	20531469	CNVD
Neuropsychiatric disorder	20506139	CNVD
Austim spectrum disorder	21302340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	19843651	CNVD
Schizophrenia	19843651	CNVD
Autism	22543975	CNVD
Epilepsy	22499536	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Mental retardation	21956041	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Autism	21269290	CNVD
Intellectual disability	21269290	CNVD
Schizophrenia	21269290	CNVD
Colorectal cancer	21128281	CNVD
Epilepsy	19289393	CNVD
Epilepsy	20643615	CNVD
Mental retardation	19289393	CNVD
Mental retardation	20152051	CNVD
Schizophrenia	19289393	CNVD
dysmorphic features	19289393	CNVD
idiopathic epilepsies	19341504	CNVD
idiopathic generalized epilepsy	19592580	CNVD
idiopathic generalized epilepsy	19136953	CNVD
Autism	22094647	CNVD
Developmental delay	19898479	CNVD
Mental retardation	18278044	CNVD
Mental retardation	19898479	CNVD
Prader-willi syndrome	18854863	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD
Schizophrenia	23813976	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:689 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30316600-30324800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:30316800-30322400	Weak transcription	Brain Angular Gyrus	brain
3	chr15:30316800-30324800	Weak transcription	Brain Hippocampus Middle	brain
4	chr15:30319000-30319200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:30319000-30319600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr15:30320400-30320800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:30322400-30322800	ZNF genes & repeats	Brain Angular Gyrus	brain
8	chr15:30323200-30324800	Weak transcription	Brain Angular Gyrus	brain
9	chr15:30324800-30325400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr15:30324800-30325600	Enhancers	Brain Angular Gyrus	brain
11	chr15:30324800-30326400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:30324800-30326400	Enhancers	Brain Anterior Caudate	brain
13	chr15:30324800-30326400	Enhancers	Brain Cingulate Gyrus	brain
14	chr15:30324800-30326400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr15:30324800-30326400	Enhancers	Brain Substantia Nigra	brain
16	chr15:30324800-30326600	Enhancers	Brain Hippocampus Middle	brain
17	chr15:30325000-30326400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:30325400-30327600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr15:30325600-30325800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:30325600-30327600	Weak transcription	Brain Angular Gyrus	brain
21	chr15:30326400-30327600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr15:30326400-30327800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr15:30326400-30328000	Weak transcription	Brain Anterior Caudate	brain
24	chr15:30326400-30328200	Weak transcription	Brain Substantia Nigra	brain
25	chr15:30326600-30328200	Weak transcription	Brain Hippocampus Middle	brain
26	chr15:30327600-30328200	Enhancers	Brain Angular Gyrus	brain
27	chr15:30327600-30328400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr15:30327600-30328800	Enhancers	Brain Cingulate Gyrus	brain
29	chr15:30327600-30329800	Enhancers	Fetal Brain Male	brain
30	chr15:30327800-30328400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr15:30327800-30328400	Enhancers	Fetal Brain Female	brain
32	chr15:30327800-30329000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr15:30328000-30328200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr15:30328000-30328200	Enhancers	Brain Anterior Caudate	brain
35	chr15:30328200-30328400	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr15:30328200-30328400	Enhancers	Brain Substantia Nigra	brain
37	chr15:30328200-30328600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr15:30328200-30328600	Enhancers	Brain Hippocampus Middle	brain
39	chr15:30328200-30331200	Weak transcription	Brain Angular Gyrus	brain
40	chr15:30328400-30328800	Active TSS	Brain Anterior Caudate	brain
41	chr15:30328400-30328800	Active TSS	Fetal Brain Female	brain
42	chr15:30328400-30331000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr15:30328400-30331200	Weak transcription	Brain Substantia Nigra	brain
44	chr15:30328400-30333600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr15:30328600-30331200	Weak transcription	Brain Hippocampus Middle	brain
46	chr15:30328800-30329200	Enhancers	Fetal Brain Female	brain
47	chr15:30328800-30331200	Weak transcription	Brain Anterior Caudate	brain
48	chr15:30328800-30333400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr15:30329000-30331200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr15:30329400-30329600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links