Variant report

Variant	nsv1046535
Chromosome Location	chr15:31352063-31392141
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:451)
CpG islands
(count:1224)
Chromatin interactive
region (count:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:31381129-31381842	HepG2	liver:	n/a	n/a
2	ARID3A	chr15:31361599-31361779	HepG2	liver:	n/a	n/a
3	ARID3A	chr15:31384908-31385320	HepG2	liver:	n/a	n/a
4	ATF1	chr15:31371191-31371230	K562	blood:	n/a	n/a
5	ATF1	chr15:31376612-31376664	K562	blood:	n/a	n/a
6	BACH1	chr15:31373087-31373180	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr15:31354388-31354668	GM12878	blood:	n/a	n/a
8	BATF	chr15:31354380-31354706	GM12878	blood:	n/a	n/a
9	BCL3	chr15:31384773-31385276	A549	lung:	n/a	n/a
10	BCL3	chr15:31369836-31370207	GM12878	blood:	n/a	n/a
11	BHLHE40	chr15:31381061-31382012	HepG2	liver:	n/a	n/a
12	BHLHE40	chr15:31384869-31385246	HepG2	liver:	n/a	n/a
13	CEBPB	chr15:31381253-31381467	HepG2	liver:	n/a	chr15:31381378-31381387 chr15:31381377-31381388 chr15:31381376-31381387
14	CEBPB	chr15:31371688-31372101	IMR90	lung:	n/a	n/a
15	CEBPB	chr15:31353771-31353804	K562	blood:	n/a	n/a
16	CEBPB	chr15:31358174-31358215	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr15:31381101-31381576	HepG2	liver:	n/a	chr15:31381378-31381387 chr15:31381377-31381388 chr15:31381376-31381387
18	CEBPB	chr15:31380951-31381935	HepG2	liver:	n/a	chr15:31381378-31381387 chr15:31381377-31381388 chr15:31381376-31381387
19	CEBPB	chr15:31360456-31360715	A549	lung:	n/a	n/a
20	CEBPB	chr15:31381210-31381544	A549	lung:	n/a	chr15:31381378-31381387 chr15:31381377-31381388 chr15:31381376-31381387
21	CEBPB	chr15:31381210-31381539	IMR90	lung:	n/a	chr15:31381378-31381387 chr15:31381377-31381388 chr15:31381376-31381387
22	CEBPB	chr15:31358005-31358413	MCF-7	breast:	n/a	n/a
23	CEBPB	chr15:31381201-31381538	K562	blood:	n/a	chr15:31381378-31381387 chr15:31381377-31381388 chr15:31381376-31381387
24	CEBPB	chr15:31381279-31381497	H1-hESC	embryonic stem cell:	n/a	chr15:31381378-31381387 chr15:31381377-31381388 chr15:31381376-31381387
25	CEBPB	chr15:31381146-31381608	A549	lung:	n/a	chr15:31381378-31381387 chr15:31381377-31381388 chr15:31381376-31381387
26	CEBPB	chr15:31360446-31360642	HepG2	liver:	n/a	n/a
27	CEBPB	chr15:31381102-31381941	HepG2	liver:	n/a	chr15:31381378-31381387 chr15:31381377-31381388 chr15:31381376-31381387
28	CEBPD	chr15:31381206-31381450	HepG2	liver:	n/a	n/a
29	CEBPD	chr15:31380900-31381232	HepG2	liver:	n/a	n/a
30	CHD2	chr15:31390949-31391119	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr15:31391094-31391108	HepG2	liver:	n/a	n/a
32	CHD2	chr15:31381045-31381371	HepG2	liver:	n/a	n/a
33	CHD2	chr15:31384391-31384410	HepG2	liver:	n/a	n/a
34	CHD2	chr15:31352970-31353036	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr15:31381613-31381922	HepG2	liver:	n/a	n/a
36	CHD2	chr15:31384828-31385165	HepG2	liver:	n/a	n/a
37	CTCF	chr15:31391635-31391739	Kidney_OC	kidney:	n/a	n/a
38	CTCF	chr15:31391500-31391650	NB4	blood:	n/a	n/a
39	CTCF	chr15:31373060-31373210	BE2_C	brain:	n/a	n/a
40	CTCF	chr15:31391580-31391730	GM12871	blood:	n/a	n/a
41	CTCF	chr15:31391478-31391909	HCT-116	colon:	n/a	n/a
42	CTCF	chr15:31372980-31373130	HCPEpiC	choroid plexus:	n/a	n/a
43	CTCF	chr15:31370060-31370134	Fibrobl	skin:	n/a	n/a
44	CTCF	chr15:31390900-31391050	GM06990	blood:	n/a	n/a
45	CTCF	chr15:31373160-31373310	GM12875	blood:	n/a	n/a
46	CTCF	chr15:31391620-31391770	GM12878	blood:	n/a	n/a
47	CTCF	chr15:31391695-31391714	Pancreas_OC	pancreas:	n/a	n/a
48	CTCF	chr15:31391560-31391710	GM12873	blood:	n/a	n/a
49	CTCF	chr15:31391646-31391752	GM10266	blood:	n/a	n/a
50	CTCF	chr15:31391560-31391710	GM12875	blood:	n/a	n/a

(count:1224 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:31372742-31372792	GM12892	blood:	n/a
2	chr15:31358057-31358107	Jurkat	blood:	n/a
3	chr15:31357621-31357671	IMR90	lung:	fetal
4	chr15:31357238-31357288	HRE	kidney:	n/a
5	chr15:31372742-31372792	GM12892	blood:	n/a
6	chr15:31358057-31358107	Jurkat	blood:	n/a
7	chr15:31357621-31357671	IMR90	lung:	fetal
8	chr15:31357238-31357288	HRE	kidney:	n/a
9	chr15:31381015-31381065	Hepatocyte	liver:	n/a
10	chr15:31383719-31383769	RPTEC	kidney:	n/a
11	chr15:31355362-31355412	HIPEpiC	eye:	n/a
12	chr15:31379377-31379427	NHBE	bronchial:	n/a
13	chr15:31357535-31357585	HEEpiC	esophagus:	n/a
14	chr15:31391491-31391541	HRPEpiC	eye:	n/a
15	chr15:31357621-31357671	NHDF-neo	bronchial:	n/a
16	chr15:31379377-31379427	AG09319	gingival:	n/a
17	chr15:31380908-31380958	PFSK-1	brain:	n/a
18	chr15:31355430-31355480	AG09319	gingival:	n/a
19	chr15:31391491-31391541	H1-hESC	embryonic stem cell:	embryo
20	chr15:31362182-31362232	GM12891	blood:	n/a
21	chr15:31383719-31383769	NB4	blood:	n/a
22	chr15:31355430-31355480	SK-N-SH	brain:	n/a
23	chr15:31355430-31355480	NHDF-neo	bronchial:	n/a
24	chr15:31358323-31358373	PrEC	prostate:	n/a
25	chr15:31372889-31372939	HIPEpiC	eye:	n/a
26	chr15:31381816-31381866	SKMC	muscle:	n/a
27	chr15:31372742-31372792	H1-hESC	embryonic stem cell:	embryo
28	chr15:31357238-31357288	AoSMC	blood vessel:	n/a
29	chr15:31358323-31358373	NB4	blood:	n/a
30	chr15:31372742-31372792	GM06990	blood:	n/a
31	chr15:31370762-31370812	GM12892	blood:	n/a
32	chr15:31358057-31358107	PrEC	prostate:	n/a
33	chr15:31373178-31373228	CMK	blood:	n/a
34	chr15:31357535-31357585	GM12878	blood:	n/a
35	chr15:31357535-31357585	Caco-2	colon:	n/a
36	chr15:31370762-31370812	Jurkat	blood:	n/a
37	chr15:31355430-31355480	A549	lung:	n/a
38	chr15:31357238-31357288	AG04449	skin:	fetal
39	chr15:31357238-31357288	AG09319	gingival:	n/a
40	chr15:31358323-31358373	AoSMC	blood vessel:	n/a
41	chr15:31372889-31372939	GM12892	blood:	n/a
42	chr15:31370762-31370812	HRE	kidney:	n/a
43	chr15:31372889-31372939	PrEC	prostate:	n/a
44	chr15:31372997-31373047	ECC-1	luminal epithelium:	n/a
45	chr15:31355304-31355354	HepG2	liver:	n/a
46	chr15:31355362-31355412	BE2_C	brain:	n/a
47	chr15:31372889-31372939	NB4	blood:	n/a
48	chr15:31357535-31357585	GM06990	blood:	n/a
49	chr15:31357535-31357585	GM12891	blood:	n/a
50	chr15:31355304-31355354	HCPEpiC	choroid plexus:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr15:31343612..31345849-chr15:31349848..31352849,3	K562	blood:
2	chr15:31376554..31379301-chr15:31382366..31384596,2	MCF-7	breast:
3	chr15:31372825..31374445-chr15:31376180..31377708,2	K562	blood:
4	chr15:31197730..31198708-chr15:31390791..31392081,3	MCF-7	breast:
5	chr15:31282551..31285125-chr15:31384026..31386861,2	MCF-7	breast:
6	chr15:31382233..31384961-chr15:31390192..31392345,2	K562	blood:
7	chr15:31376554..31379301-chr15:31382366..31384596,2	MCF-7	breast:
8	chr15:31283182..31285507-chr15:31372643..31376293,4	MCF-7	breast:
9	chr15:31349956..31352117-chr15:31353870..31356549,2	K562	blood:
10	chr15:31281186..31283904-chr15:31357047..31359370,2	MCF-7	breast:
11	chr12:30948117..30948824-chr15:31360460..31361082,2	Hela-S3	cervix:
12	chr15:31197732..31198235-chr15:31391287..31392163,2	MCF-7	breast:
13	chr15:31372825..31374445-chr15:31376180..31377708,2	K562	blood:
14	chr15:31382233..31384961-chr15:31390192..31392345,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTMR10-1	chr15:31383179-31383431	l_1124_chr15:31383178-31385928_brain
2	lnc-MTMR10-1	chr15:31385825-31385928	l_1124_chr15:31383178-31385928_brain

miRNA name	Chromosome Location	mirBase accession
hsa-miR-211-3p	chr15:31357262-31357282	MIMAT0022694
hsa-miR-211-5p	chr15:31357298-31357319	MIMAT0000268

No data

Variant related genes	Relation type
TRPM1	TF binding region
MIR211	TF binding region
TRPM1	CpG island
MIR211	CpG island
ENSG00000235884	chromatin interactions
ENSG00000166912	chromatin interactions
ENSG00000134160	chromatin interactions
CREB5	Mature miRNA region
ELOVL6	Mature miRNA region
KCNMA1	Mature miRNA region
CDH5	Mature miRNA region
RAB22A	Mature miRNA region
IL11	Mature miRNA region
POU3F2	Mature miRNA region
TCF12	Mature miRNA region

Extended variants
information (count: 1764 )
Associated
traits (count: 153 )

Variant overlapped rSNPs/rCNVs (count:1764 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186540350	chr15:31352065-31352066	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573948875	chr15:31352068-31352069	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372183244	chr15:31352080-31352081	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs141353586	chr15:31352100-31352101	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs115489373	chr15:31352106-31352107	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs141096472	chr15:31352112-31352113	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs146932049	chr15:31352113-31352114	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs375243578	chr15:31352127-31352128	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138516265	chr15:31352148-31352149	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545252436	chr15:31352178-31352179	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566659287	chr15:31352196-31352197	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560307199	chr15:31352219-31352220	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374927551	chr15:31352231-31352232	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62038932	chr15:31352321-31352322	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62038933	chr15:31352323-31352324	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144086071	chr15:31352325-31352326	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139844722	chr15:31352337-31352338	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555568805	chr15:31352338-31352339	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6145512	chr15:31352346-31352347	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs62038934	chr15:31352347-31352348	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112323946	chr15:31352348-31352349	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62038935	chr15:31352349-31352350	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs62038936	chr15:31352351-31352352	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12917586	chr15:31352361-31352362	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143418239	chr15:31352387-31352388	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73374016	chr15:31352400-31352401	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs527635590	chr15:31352415-31352416	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571191191	chr15:31352426-31352427	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533797519	chr15:31352439-31352440	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553885256	chr15:31352478-31352479	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148345077	chr15:31352482-31352483	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542438124	chr15:31352487-31352488	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555880822	chr15:31352510-31352511	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191769699	chr15:31352511-31352512	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544856112	chr15:31352516-31352517	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564655367	chr15:31352523-31352524	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1057843	chr15:31352525-31352526	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533141965	chr15:31352539-31352540	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184654709	chr15:31352543-31352544	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1057840	chr15:31352558-31352559	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372436714	chr15:31352704-31352705	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1057837	chr15:31352717-31352718	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558258992	chr15:31352723-31352724	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200269953	chr15:31352726-31352727	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77126732	chr15:31352728-31352729	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141540242	chr15:31352749-31352750	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201213623	chr15:31352755-31352756	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375956952	chr15:31352781-31352782	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188790896	chr15:31352788-31352789	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11550982	chr15:31352807-31352808	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:153)

Disease	PMID	Source
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
Neuropsychiatric disorder	20506139	CNVD
Austim spectrum disorder	21302340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	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
Epilepsy	20502679	CNVD
small cell lung cancer	20016488	CNVD
Autism	19521722	CNVD
Epilepsy	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Autism	19050728	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Schizophrenia	19443537	CNVD
Epilepsy	20923578	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Olfactory neuroblastoma	18408657	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:654 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31343000-31352800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:31343600-31355400	Weak transcription	Spleen	Spleen
3	chr15:31351400-31360000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:31352000-31352200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:31352000-31352200	Enhancers	Left Ventricle	heart
6	chr15:31352000-31353600	Enhancers	Pancreas	Pancrea
7	chr15:31352200-31352800	Enhancers	Stomach Mucosa	stomach
8	chr15:31352200-31353000	Weak transcription	Left Ventricle	heart
9	chr15:31352200-31353600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:31352200-31353600	Enhancers	Gastric	stomach
11	chr15:31352400-31352800	Weak transcription	Fetal Kidney	kidney
12	chr15:31352600-31353200	Enhancers	Liver	Liver
13	chr15:31352800-31353200	Enhancers	Esophagus	oesophagus
14	chr15:31352800-31353200	Enhancers	Fetal Kidney	kidney
15	chr15:31352800-31353400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:31352800-31353600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:31352800-31355600	Enhancers	Fetal Brain Male	brain
18	chr15:31353000-31353200	Enhancers	Right Atrium	heart
19	chr15:31353000-31353600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr15:31353000-31353800	Enhancers	Left Ventricle	heart
21	chr15:31353000-31355600	Enhancers	Brain Germinal Matrix	brain
22	chr15:31353200-31353400	Weak transcription	Fetal Kidney	kidney
23	chr15:31353200-31354400	Weak transcription	Esophagus	oesophagus
24	chr15:31353200-31363400	Weak transcription	Right Atrium	heart
25	chr15:31353400-31355200	Enhancers	Fetal Kidney	kidney
26	chr15:31353400-31355400	Enhancers	Fetal Brain Female	brain
27	chr15:31353400-31365200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr15:31353600-31355200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:31353600-31355200	Weak transcription	Pancreas	Pancrea
30	chr15:31353600-31360200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:31353800-31354200	Weak transcription	Left Ventricle	heart
32	chr15:31354200-31354400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr15:31354200-31354400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:31354200-31354400	Enhancers	Left Ventricle	heart
35	chr15:31354200-31354400	Enhancers	NHDF-Ad	bronchial
36	chr15:31354200-31354600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:31354200-31355400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr15:31354200-31355600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr15:31354400-31354600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:31354400-31354600	Enhancers	Esophagus	oesophagus
41	chr15:31354400-31354600	Flanking Active TSS	NHDF-Ad	bronchial
42	chr15:31354400-31355000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr15:31354400-31355000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:31354400-31355200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:31354400-31355200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr15:31354400-31355200	Enhancers	Brain Angular Gyrus	brain
47	chr15:31354400-31355200	Enhancers	Osteobl	bone
48	chr15:31354400-31355400	Enhancers	Adipose Nuclei	Adipose
49	chr15:31354400-31355600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr15:31354400-31363200	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links