Variant report

Variant	nsv1053813
Chromosome Location	chr15:30775982-30979929
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2114)
CpG islands
(count:1221)
Chromatin interactive
region (count:7)
LncRNA
region (count:37)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2114 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:30917819-30918297	HepG2	liver:	n/a	n/a
2	ARID3A	chr15:30917841-30918381	K562	blood:	n/a	n/a
3	ARID3A	chr15:30941065-30941323	HepG2	liver:	n/a	chr15:30941184-30941200 chr15:30941198-30941214
4	ATF1	chr15:30917774-30918461	K562	blood:	n/a	n/a
5	ATF1	chr15:30942408-30942747	K562	blood:	n/a	n/a
6	ATF2	chr15:30918103-30918425	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr15:30917808-30918347	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr15:30917694-30918103	GM12878	blood:	n/a	n/a
9	ATF2	chr15:30917709-30918426	GM12878	blood:	n/a	n/a
10	ATF2	chr15:30941959-30942874	GM12878	blood:	n/a	n/a
11	ATF3	chr15:30917703-30918445	A549	lung:	n/a	n/a
12	BATF	chr15:30793879-30794120	GM12878	blood:	n/a	n/a
13	BATF	chr15:30942101-30942823	GM12878	blood:	n/a	n/a
14	BATF	chr15:30880957-30881265	GM12878	blood:	n/a	n/a
15	BATF	chr15:30858799-30859444	GM12878	blood:	n/a	n/a
16	BATF	chr15:30871690-30872015	GM12878	blood:	n/a	chr15:30871822-30871833 chr15:30871827-30871837 chr15:30871823-30871833
17	BATF	chr15:30793866-30794121	GM12878	blood:	n/a	n/a
18	BATF	chr15:30939417-30939718	GM12878	blood:	n/a	n/a
19	BATF	chr15:30881037-30881316	GM12878	blood:	n/a	n/a
20	BATF	chr15:30917720-30918566	GM12878	blood:	n/a	n/a
21	BATF	chr15:30829434-30829723	GM12878	blood:	n/a	n/a
22	BATF	chr15:30871617-30871985	GM12878	blood:	n/a	chr15:30871822-30871833 chr15:30871827-30871837 chr15:30871823-30871833
23	BATF	chr15:30939410-30939698	GM12878	blood:	n/a	n/a
24	BATF	chr15:30942098-30942760	GM12878	blood:	n/a	n/a
25	BATF	chr15:30832413-30833670	GM12878	blood:	n/a	chr15:30833063-30833074
26	BATF	chr15:30832414-30833216	GM12878	blood:	n/a	chr15:30833063-30833074
27	BCL11A	chr15:30942112-30942840	GM12878	blood:	n/a	n/a
28	BCL11A	chr15:30832593-30833514	GM12878	blood:	n/a	n/a
29	BCL11A	chr15:30793856-30794157	GM12878	blood:	n/a	n/a
30	BCL11A	chr15:30918059-30918429	GM12878	blood:	n/a	chr15:30918103-30918112
31	BCL11A	chr15:30858936-30859213	GM12878	blood:	n/a	n/a
32	BCL11A	chr15:30832618-30833226	GM12878	blood:	n/a	n/a
33	BCL11A	chr15:30871697-30871948	GM12878	blood:	n/a	chr15:30871825-30871834 chr15:30871780-30871789
34	BCL11A	chr15:30917933-30918639	GM12878	blood:	n/a	chr15:30918103-30918112 chr15:30918531-30918544
35	BCL11A	chr15:30871637-30871932	GM12878	blood:	n/a	chr15:30871825-30871834 chr15:30871780-30871789
36	BCL11A	chr15:30880980-30881263	GM12878	blood:	n/a	n/a
37	BCL11A	chr15:30859004-30859344	GM12878	blood:	n/a	chr15:30859230-30859243
38	BCL3	chr15:30917685-30918459	A549	lung:	n/a	chr15:30918103-30918112
39	BCL3	chr15:30917699-30918306	A549	lung:	n/a	chr15:30918103-30918112
40	BCLAF1	chr15:30917749-30918426	GM12878	blood:	n/a	chr15:30918103-30918112
41	BCLAF1	chr15:30942082-30942772	GM12878	blood:	n/a	n/a
42	BCLAF1	chr15:30917705-30918445	GM12878	blood:	n/a	chr15:30918103-30918112
43	BHLHE40	chr15:30959588-30959606	K562	blood:	n/a	n/a
44	BHLHE40	chr15:30917697-30918361	K562	blood:	n/a	n/a
45	BHLHE40	chr15:30918672-30918780	K562	blood:	n/a	n/a
46	BHLHE40	chr15:30968872-30968884	K562	blood:	n/a	n/a
47	BHLHE40	chr15:30917774-30918462	GM12878	blood:	n/a	n/a
48	BHLHE40	chr15:30941983-30942693	GM12878	blood:	n/a	n/a
49	BRCA1	chr15:30917802-30918301	Hela-S3	cervix:	n/a	n/a
50	CBX3	chr15:30917493-30918536	K562	blood:	n/a	n/a

(count:1221 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:30865191-30865241	HEEpiC	esophagus:	n/a
2	chr15:30865191-30865241	HEEpiC	esophagus:	n/a
3	chr15:30918065-30918115	ProgFib	skin:	n/a
4	chr15:30865191-30865241	GM12892	blood:	n/a
5	chr15:30918595-30918645	GM19239	blood:	n/a
6	chr15:30865191-30865241	GM12891	blood:	n/a
7	chr15:30917991-30918041	Hepatocyte	liver:	n/a
8	chr15:30918339-30918389	SK-N-MC	brain:	n/a
9	chr15:30896060-30896110	SK-N-SH	brain:	n/a
10	chr15:30917918-30917968	LNCaP	prostate:	n/a
11	chr15:30918313-30918363	NH-A	brain:	n/a
12	chr15:30918339-30918389	NHBE	bronchial:	n/a
13	chr15:30917958-30918008	NHBE	bronchial:	n/a
14	chr15:30861172-30861222	H1-hESC	embryonic stem cell:	embryo
15	chr15:30918328-30918378	AG10803	skin:	n/a
16	chr15:30918313-30918363	T-47D	breast:	n/a
17	chr15:30918595-30918645	HMEC	breast:	n/a
18	chr15:30896060-30896110	BJ	skin:	n/a
19	chr15:30861172-30861222	PFSK-1	brain:	n/a
20	chr15:30918313-30918363	SAEC	small airway:	n/a
21	chr15:30920627-30920677	U87	brain:	n/a
22	chr15:30918065-30918115	MCF10A-Er-Src	breast:	n/a
23	chr15:30896060-30896110	H1-hESC	embryonic stem cell:	embryo
24	chr15:30816232-30816282	HRE	kidney:	n/a
25	chr15:30866091-30866141	H1-hESC	embryonic stem cell:	embryo
26	chr15:30918313-30918363	IMR90	lung:	fetal
27	chr15:30917991-30918041	SK-N-SH	brain:	n/a
28	chr15:30816232-30816282	GM12878	blood:	n/a
29	chr15:30918065-30918115	NHDF-neo	bronchial:	n/a
30	chr15:30844060-30844110	Hela-S3	cervix:	n/a
31	chr15:30917918-30917968	HNPCEpiC	eye:	n/a
32	chr15:30918065-30918115	HRPEpiC	eye:	n/a
33	chr15:30865200-30865250	A549	lung:	n/a
34	chr15:30919020-30919070	ECC-1	luminal epithelium:	n/a
35	chr15:30918339-30918389	HepG2	liver:	n/a
36	chr15:30918339-30918389	PFSK-1	brain:	n/a
37	chr15:30865200-30865250	HPAEpiC	pulmonary alveolar:	n/a
38	chr15:30930499-30930549	A549	lung:	n/a
39	chr15:30816232-30816282	MCF-7	breast:	n/a
40	chr15:30918339-30918389	HRCEpiC	kidney:	n/a
41	chr15:30917991-30918041	NHDF-neo	bronchial:	n/a
42	chr15:30896060-30896110	HNPCEpiC	eye:	n/a
43	chr15:30816232-30816282	AG10803	skin:	n/a
44	chr15:30844060-30844110	HCT-116	colon:	n/a
45	chr15:30919014-30919064	PFSK-1	brain:	n/a
46	chr15:30844060-30844110	GM12891	blood:	n/a
47	chr15:30844060-30844110	T-47D	breast:	n/a
48	chr15:30917991-30918041	LNCaP	prostate:	n/a
49	chr15:30865191-30865241	HUVEC	blood vessel:	n/a
50	chr15:30917918-30917968	A549	lung:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:30957691..30960365-chr15:30969306..30971745,2	K562	blood:
2	chr15:30957691..30960365-chr15:30969306..30971745,2	K562	blood:
3	chr15:30916698..30918883-chr15:32905767..32907284,2	MCF-7	breast:
4	chr15:30918095..30918834-chr2:231728599..231729465,2	Hela-S3	cervix:
5	chr15:30957691..30960365-chr15:30968745..30971745,3	K562	blood:
6	chr15:30917826..30919798-chr15:32905900..32908033,2	K562	blood:
7	chr15:30957691..30960365-chr15:30968745..30971745,3	K562	blood:

(count:37 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GOLGA8H-2	chr15:30941000-30941732	ENSG00000269974.1
2	lnc-CHRNA7-2	chr15:30888863-30888941	NONHSAT041366
3	lnc-CHRNA7-2	chr15:30878081-30878127	NONHSAT041368
4	lnc-ARHGAP11B-2	chr15:30904916-30905194	NONHSAT041372
5	lnc-ARHGAP11B-1	chr15:30938335-30938498	NONHSAT041382
6	lnc-GOLGA8H-1	chr15:30909161-30909952	ENSG00000269930.1
7	lnc-CHRNA7-3	chr15:30852855-30853133	NONHSAT041364
8	lnc-CHRNA7-2	chr15:30871491-30871615	NONHSAT041366
9	lnc-CHRNA7-2	chr15:30892305-30892900	NONHSAT041368
10	lnc-CHRNA7-2	chr15:30892305-30892911	NONHSAT041366
11	lnc-CHRNA7-2	chr15:30865172-30865219	NONHSAT140224
12	lnc-CHRNA7-2	chr15:30888863-30888941	NONHSAT140224
13	lnc-CHRNA7-2	chr15:30864758-30864774	NONHSAT041366
14	lnc-ARHGAP11B-1	chr15:30916697-30916815	NONHSAT041376
15	lnc-ARHGAP11B-1	chr15:30917557-30918469	NONHSAT041376
16	lnc-CHRNA7-2	chr15:30875097-30875160	NONHSAT041368
17	lnc-RP11-382B18.2.1-1	chr15:30909201-30909447	ENSG00000247728.2
18	lnc-CHRNA7-2	chr15:30871491-30871615	NONHSAT041367
19	lnc-CHRNA7-2	chr15:30865088-30865219	NONHSAT041367
20	lnc-RP11-382B18.2.1-1	chr15:30917254-30917976	ENSG00000247728.2
21	lnc-CHRNA7-2	chr15:30871491-30871615	NONHSAT140224
22	lnc-RP11-382B18.2.1-1	chr15:30917254-30917976	ENSG00000247728
23	lnc-ARHGAP11B-1	chr15:30939871-30939917	NONHSAT041382
24	lnc-AC026150.9.1-3	chr15:30780166-30782516	ENSG00000270055.1
25	lnc-CHRNA7-2	chr15:30888863-30889187	NONHSAT041367
26	lnc-ARHGAP11B-1	chr15:30916926-30917019	NONHSAT041376
27	lnc-CHRNA7-2	chr15:30892305-30892850	NONHSAT140224
28	lnc-ARHGAP11B-1	chr15:30950920-30951047	NONHSAT041384
29	lnc-RP11-382B18.2.1-1	chr15:30857143-30857384	ENSG00000247728
30	lnc-AC026150.9.1-1	chr15:30832296-30832742	ENSG00000260693.1
31	lnc-CHRNA7-2	chr15:30865172-30865219	NONHSAT041366
32	lnc-CHRNA7-2	chr15:30865172-30865219	NONHSAT041368
33	lnc-CHRNA7-2	chr15:30871491-30871615	NONHSAT041368
34	lnc-CHRNA7-2	chr15:30888863-30888941	NONHSAT041368
35	lnc-RP11-382B18.2.1-3	chr15:30899898-30900396	ENSG00000270016.1
36	lnc-AC026150.9.1-1	chr15:30836768-30836863	ENSG00000260693.1
37	lnc-AC026150.9.1-1	chr15:30838015-30838172	ENSG00000260693.1

No data

Variant related genes	Relation type
ENSG00000270016	TF binding region
ENSG00000221593	TF binding region
ENSG00000207430	TF binding region
ULK4P2	TF binding region
RN7SL628P	TF binding region
GOLGA8H	TF binding region
ARHGAP11B	TF binding region
ENSG00000269930	TF binding region
ENSG00000269974	TF binding region
ENSG00000247728	TF binding region
ENSG00000270055	TF binding region
ENSG00000206846	TF binding region
ENSG00000260693	TF binding region
RN7SL796P	TF binding region
DNM1P50	TF binding region
ENSG00000260784	TF binding region
ENSG00000252602	TF binding region
ENSG00000215302	TF binding region
ENSG00000221358	TF binding region
GOLGA8Q	TF binding region
ENSG00000270016	CpG island
ENSG00000221593	CpG island
ENSG00000207430	CpG island
ULK4P2	CpG island
RN7SL628P	CpG island
GOLGA8H	CpG island
ARHGAP11B	CpG island
ENSG00000269930	CpG island
ENSG00000269974	CpG island
ENSG00000247728	CpG island
ENSG00000270055	CpG island
ENSG00000206846	CpG island
ENSG00000260693	CpG island
RN7SL796P	CpG island
DNM1P50	CpG island
ENSG00000260784	CpG island
ENSG00000252602	CpG island
ENSG00000215302	CpG island
ENSG00000221358	CpG island
GOLGA8Q	CpG island
ENSG00000262728	chromatin interactions
ENSG00000244952	chromatin interactions
ENSG00000135916	chromatin interactions
ENSG00000198826	chromatin interactions
TGFB2	miRNA target sites
PRKAB2	miRNA target sites

Extended variants
information (count: 3805 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:3805 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150788331	chr15:30775998-30775999	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs139057240	chr15:30775999-30776000	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs62017511	chr15:30776002-30776003	Weak transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs574570215	chr15:30776036-30776037	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs561403212	chr15:30776053-30776054	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs559111627	chr15:30776063-30776064	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs530265266	chr15:30776069-30776070	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs59746081	chr15:30776090-30776091	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs542087239	chr15:30776114-30776115	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs563468831	chr15:30776121-30776122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551946517	chr15:30776127-30776128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575612319	chr15:30776205-30776206	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565713880	chr15:30776239-30776240	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528051463	chr15:30776284-30776285	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192820268	chr15:30776293-30776294	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568375666	chr15:30776321-30776322	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185246421	chr15:30776330-30776331	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557195968	chr15:30776332-30776333	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528445376	chr15:30776341-30776342	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539174688	chr15:30776370-30776371	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558780612	chr15:30776399-30776400	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572433798	chr15:30776404-30776405	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs188513700	chr15:30776436-30776437	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs554915387	chr15:30776454-30776455	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs574816907	chr15:30776466-30776467	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs149872147	chr15:30776474-30776475	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs563551986	chr15:30776478-30776479	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs371679361	chr15:30776500-30776501	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs193133511	chr15:30776514-30776515	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs545910241	chr15:30776519-30776520	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs184817708	chr15:30776521-30776522	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs75993557	chr15:30776540-30776541	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs143981994	chr15:30776549-30776550	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs74376594	chr15:30776579-30776580	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs371037183	chr15:30776592-30776593	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs140391656	chr15:30776607-30776608	Weak transcription Strong transcription Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs547896297	chr15:30776648-30776649	Weak transcription Strong transcription Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs368553745	chr15:30776724-30776725	Weak transcription Strong transcription Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs200957561	chr15:30776792-30776793	Weak transcription Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs528430717	chr15:30776842-30776843	Weak transcription Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs561620205	chr15:30776847-30776848	Weak transcription Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs530835794	chr15:30776872-30776873	Weak transcription Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs550882714	chr15:30776883-30776884	Weak transcription Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs570704382	chr15:30776907-30776908	Weak transcription Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs539235392	chr15:30776910-30776911	Weak transcription Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs377711965	chr15:30776969-30776970	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs552675059	chr15:30776996-30776997	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs571425480	chr15:30777069-30777070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566057069	chr15:30777097-30777098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62017512	chr15:30777143-30777144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:140)

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
Pancreatic cancer	17952125	CNVD
Intellectual disability	21811512	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD

Chromatin state (count:1091 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30763200-30783200	Weak transcription	Fetal Thymus	thymus
2	chr15:30763600-30776200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr15:30763600-30776200	Weak transcription	HSMM	muscle
4	chr15:30763600-30776200	Weak transcription	Osteobl	bone
5	chr15:30763600-30777800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr15:30763600-30778200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr15:30763600-30779400	Weak transcription	Dnd41	blood
8	chr15:30763600-30782600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:30763600-30782800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:30763600-30783000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:30763600-30783200	Weak transcription	Right Ventricle	heart
12	chr15:30763600-30783400	Weak transcription	Ovary	ovary
13	chr15:30763600-30783400	Weak transcription	Thymus	Thymus
14	chr15:30763600-30783600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr15:30763600-30783600	Weak transcription	Left Ventricle	heart
16	chr15:30763600-30785200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:30763600-30785200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr15:30763600-30789000	Weak transcription	Esophagus	oesophagus
19	chr15:30767400-30784600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr15:30767600-30783000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr15:30767600-30783200	Weak transcription	Spleen	Spleen
22	chr15:30767600-30784600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:30768000-30778600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:30768000-30783200	Weak transcription	Gastric	stomach
25	chr15:30768200-30778600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr15:30768400-30780200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr15:30768600-30778600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr15:30768600-30779800	Weak transcription	Placenta	Placenta
29	chr15:30768600-30783000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr15:30768600-30783200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr15:30768600-30783600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:30768800-30783000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr15:30769000-30783200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr15:30769000-30784800	Weak transcription	Primary T cells from cord blood	blood
35	chr15:30769600-30782400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr15:30770000-30786800	Weak transcription	Fetal Lung	lung
37	chr15:30770600-30776200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr15:30770600-30788600	Weak transcription	Liver	Liver
39	chr15:30770800-30776200	Weak transcription	Adipose Nuclei	Adipose
40	chr15:30770800-30782800	Weak transcription	Small Intestine	intestine
41	chr15:30770800-30783000	Weak transcription	Lung	lung
42	chr15:30771200-30783200	Weak transcription	Fetal Intestine Small	intestine
43	chr15:30771800-30776000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:30771800-30778600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr15:30771800-30781400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr15:30771800-30781400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr15:30771800-30782800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr15:30771800-30783400	Weak transcription	Fetal Stomach	stomach
49	chr15:30772000-30783200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr15:30772200-30776400	Weak transcription	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links