Variant report

Variant	nsv1054710
Chromosome Location	chr15:30501813-30933522
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2749)
CpG islands
(count:2318)
Chromatin interactive
region (count:3)
LncRNA
region (count:46)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2749 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:30917841-30918381	K562	blood:	n/a	n/a
2	ARID3A	chr15:30917819-30918297	HepG2	liver:	n/a	n/a
3	ATF1	chr15:30917774-30918461	K562	blood:	n/a	n/a
4	ATF2	chr15:30918103-30918425	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr15:30917709-30918426	GM12878	blood:	n/a	n/a
6	ATF2	chr15:30917694-30918103	GM12878	blood:	n/a	n/a
7	ATF2	chr15:30917808-30918347	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr15:30917703-30918445	A549	lung:	n/a	n/a
9	BATF	chr15:30691171-30691739	GM12878	blood:	n/a	n/a
10	BATF	chr15:30717407-30718307	GM12878	blood:	n/a	n/a
11	BATF	chr15:30871690-30872015	GM12878	blood:	n/a	chr15:30871822-30871833 chr15:30871827-30871837 chr15:30871823-30871833
12	BATF	chr15:30793879-30794120	GM12878	blood:	n/a	n/a
13	BATF	chr15:30793866-30794121	GM12878	blood:	n/a	n/a
14	BATF	chr15:30716939-30717383	GM12878	blood:	n/a	n/a
15	BATF	chr15:30880957-30881265	GM12878	blood:	n/a	n/a
16	BATF	chr15:30832414-30833216	GM12878	blood:	n/a	chr15:30833063-30833074
17	BATF	chr15:30765290-30765504	GM12878	blood:	n/a	n/a
18	BATF	chr15:30763589-30764924	GM12878	blood:	n/a	n/a
19	BATF	chr15:30871617-30871985	GM12878	blood:	n/a	chr15:30871822-30871833 chr15:30871827-30871837 chr15:30871823-30871833
20	BATF	chr15:30678631-30678956	GM12878	blood:	n/a	chr15:30678848-30678858 chr15:30678844-30678854
21	BATF	chr15:30626371-30626674	GM12878	blood:	n/a	chr15:30626595-30626606
22	BATF	chr15:30858799-30859444	GM12878	blood:	n/a	n/a
23	BATF	chr15:30832413-30833670	GM12878	blood:	n/a	chr15:30833063-30833074
24	BATF	chr15:30763776-30764872	GM12878	blood:	n/a	n/a
25	BATF	chr15:30717393-30718193	GM12878	blood:	n/a	n/a
26	BATF	chr15:30678661-30679029	GM12878	blood:	n/a	chr15:30678848-30678858 chr15:30678844-30678854
27	BATF	chr15:30763002-30763213	GM12878	blood:	n/a	n/a
28	BATF	chr15:30829434-30829723	GM12878	blood:	n/a	n/a
29	BATF	chr15:30626382-30626790	GM12878	blood:	n/a	chr15:30626595-30626606
30	BATF	chr15:30765283-30765578	GM12878	blood:	n/a	n/a
31	BATF	chr15:30917720-30918566	GM12878	blood:	n/a	n/a
32	BATF	chr15:30720885-30721174	GM12878	blood:	n/a	n/a
33	BATF	chr15:30881037-30881316	GM12878	blood:	n/a	n/a
34	BCL11A	chr15:30871697-30871948	GM12878	blood:	n/a	chr15:30871825-30871834 chr15:30871780-30871789
35	BCL11A	chr15:30858936-30859213	GM12878	blood:	n/a	n/a
36	BCL11A	chr15:30678698-30678949	GM12878	blood:	n/a	chr15:30678847-30678856 chr15:30678892-30678901
37	BCL11A	chr15:30763771-30764696	GM12878	blood:	n/a	n/a
38	BCL11A	chr15:30626396-30626697	GM12878	blood:	n/a	n/a
39	BCL11A	chr15:30678714-30679009	GM12878	blood:	n/a	chr15:30678847-30678856 chr15:30678892-30678901
40	BCL11A	chr15:30691441-30691613	GM12878	blood:	n/a	n/a
41	BCL11A	chr15:30763746-30764847	GM12878	blood:	n/a	n/a
42	BCL11A	chr15:30917933-30918639	GM12878	blood:	n/a	chr15:30918103-30918112 chr15:30918531-30918544
43	BCL11A	chr15:30765257-30765493	GM12878	blood:	n/a	n/a
44	BCL11A	chr15:30832618-30833226	GM12878	blood:	n/a	n/a
45	BCL11A	chr15:30832593-30833514	GM12878	blood:	n/a	n/a
46	BCL11A	chr15:30717383-30717989	GM12878	blood:	n/a	n/a
47	BCL11A	chr15:30717095-30717386	GM12878	blood:	n/a	n/a
48	BCL11A	chr15:30880980-30881263	GM12878	blood:	n/a	n/a
49	BCL11A	chr15:30871637-30871932	GM12878	blood:	n/a	chr15:30871825-30871834 chr15:30871780-30871789
50	BCL11A	chr15:30859004-30859344	GM12878	blood:	n/a	chr15:30859230-30859243

(count:2318 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:30677804-30677854	RPTEC	kidney:	n/a
2	chr15:30866091-30866141	AG09309	skin:	n/a
3	chr15:30918339-30918389	GM19239	blood:	n/a
4	chr15:30517601-30517651	NB4	blood:	n/a
5	chr15:30930499-30930549	PANC-1	pancreas:	n/a
6	chr15:30666736-30666786	Jurkat	blood:	n/a
7	chr15:30763484-30763534	HepG2	liver:	n/a
8	chr15:30918339-30918389	H1-hESC	embryonic stem cell:	embryo
9	chr15:30865200-30865250	AG09309	skin:	n/a
10	chr15:30918339-30918389	MCF10A-Er-Src	breast:	n/a
11	chr15:30918065-30918115	PrEC	prostate:	n/a
12	chr15:30699977-30700027	SK-N-MC	brain:	n/a
13	chr15:30918313-30918363	ECC-1	luminal epithelium:	n/a
14	chr15:30918595-30918645	PFSK-1	brain:	n/a
15	chr15:30516906-30516956	ProgFib	skin:	n/a
16	chr15:30654880-30654930	SK-N-SH	brain:	n/a
17	chr15:30685198-30685248	NB4	blood:	n/a
18	chr15:30517601-30517651	IMR90	lung:	fetal
19	chr15:30511386-30511436	HepG2	liver:	n/a
20	chr15:30917918-30917968	Hepatocyte	liver:	n/a
21	chr15:30930499-30930549	BJ	skin:	n/a
22	chr15:30699977-30700027	HNPCEpiC	eye:	n/a
23	chr15:30666736-30666786	ProgFib	skin:	n/a
24	chr15:30517601-30517651	T-47D	breast:	n/a
25	chr15:30517589-30517639	Hepatocyte	liver:	n/a
26	chr15:30677804-30677854	SAEC	small airway:	n/a
27	chr15:30844060-30844110	U87	brain:	n/a
28	chr15:30918313-30918363	GM12892	blood:	n/a
29	chr15:30918313-30918363	NHBE	bronchial:	n/a
30	chr15:30516422-30516472	HCF	heart:	n/a
31	chr15:30654880-30654930	PFSK-1	brain:	n/a
32	chr15:30763484-30763534	HUVEC	blood vessel:	n/a
33	chr15:30919020-30919070	Hepatocyte	liver:	n/a
34	chr15:30654880-30654930	IMR90	lung:	fetal
35	chr15:30517601-30517651	GM12878	blood:	n/a
36	chr15:30816232-30816282	Caco-2	colon:	n/a
37	chr15:30700112-30700162	HNPCEpiC	eye:	n/a
38	chr15:30917991-30918041	BJ	skin:	n/a
39	chr15:30918339-30918389	AG09319	gingival:	n/a
40	chr15:30930499-30930549	HCM	heart:	n/a
41	chr15:30517601-30517651	HAEpiC	amniotic membrane:	n/a
42	chr15:30700112-30700162	HCT-116	colon:	n/a
43	chr15:30511386-30511436	BJ	skin:	n/a
44	chr15:30516906-30516956	HEEpiC	esophagus:	n/a
45	chr15:30861172-30861222	ovcar-3	ovarian:	n/a
46	chr15:30917991-30918041	LNCaP	prostate:	n/a
47	chr15:30763484-30763534	Caco-2	colon:	n/a
48	chr15:30685198-30685248	H1-hESC	embryonic stem cell:	embryo
49	chr15:30896216-30896266	NHBE	bronchial:	n/a
50	chr15:30865191-30865241	ECC-1	luminal epithelium:	n/a

(count:3 , 50 per page) page: 1

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

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-382B18.2.1-1	chr15:30917254-30917976	ENSG00000247728
2	lnc-RP11-382B18.2.1-2	chr15:30675247-30675585	NONHSAT041348
3	lnc-RP5-1086D14.3.1-1	chr15:30502620-30506743	ENSG00000225930.3
4	lnc-AC026150.9.1-5	chr15:30702037-30703662	NONHSAT041356
5	lnc-CHRNA7-2	chr15:30892305-30892911	NONHSAT041366
6	lnc-CHRNA7-2	chr15:30871491-30871615	NONHSAT041367
7	lnc-CHRNA7-2	chr15:30875097-30875160	NONHSAT041368
8	lnc-RP11-382B18.2.1-1	chr15:30857143-30857384	ENSG00000247728
9	lnc-GOLGA8H-1	chr15:30909161-30909952	ENSG00000269930.1
10	lnc-AC026150.9.1-1	chr15:30836768-30836863	ENSG00000260693.1
11	lnc-AC026150.9.1-4	chr15:30749372-30751192	ucscGeneNc_uc001zhb_2
12	lnc-CHRNA7-2	chr15:30865088-30865219	NONHSAT041367
13	lnc-CHRNA7-2	chr15:30888863-30888941	NONHSAT041368
14	lnc-ARHGAP11B-1	chr15:30916926-30917019	NONHSAT041376
15	lnc-CHRFAM7A-3	chr15:30697514-30697792	NONHSAT041354
16	lnc-CHRNA7-2	chr15:30871491-30871615	NONHSAT041368
17	lnc-RP11-382B18.2.1-2	chr15:30673906-30674079	NONHSAT041347
18	lnc-AC026150.9.1-3	chr15:30780166-30782516	ENSG00000270055.1
19	lnc-CHRNA7-2	chr15:30871491-30871615	NONHSAT041366
20	lnc-RP11-382B18.2.1-2	chr15:30675522-30675585	NONHSAT041347
21	lnc-RP5-1086D14.3.1-1	chr15:30502620-30504471	ENSG00000225930.2
22	lnc-CHRNA7-2	chr15:30865172-30865219	NONHSAT041366
23	lnc-RP5-1086D14.3.1-1	chr15:30502611-30503009	ENSG00000225930.2
24	lnc-CHRNA7-3	chr15:30852855-30853133	NONHSAT041364
25	lnc-ARHGAP11B-1	chr15:30916697-30916815	NONHSAT041376
26	lnc-CHRNA7-2	chr15:30871491-30871615	NONHSAT140224
27	lnc-CHRNA7-2	chr15:30888863-30888941	NONHSAT140224
28	lnc-CHRNA7-2	chr15:30878081-30878127	NONHSAT041368
29	lnc-CHRNA7-2	chr15:30892305-30892900	NONHSAT041368
30	lnc-CHRNA7-2	chr15:30888863-30888941	NONHSAT041366
31	lnc-CHRNA7-2	chr15:30865172-30865219	NONHSAT140224
32	lnc-RP11-382B18.2.1-2	chr15:30679066-30679190	NONHSAT041348
33	lnc-RP11-382B18.2.1-2	chr15:30672556-30672602	NONHSAT041347
34	lnc-ARHGAP11B-2	chr15:30904916-30905194	NONHSAT041372
35	lnc-ARHGAP11B-1	chr15:30917557-30918469	NONHSAT041376
36	lnc-CHRNA7-2	chr15:30864758-30864774	NONHSAT041366
37	lnc-CHRFAM7A-2	chr15:30649969-30650976	ENSG00000270173.1
38	lnc-RP11-382B18.2.1-1	chr15:30917254-30917976	ENSG00000247728.2
39	lnc-CHRNA7-2	chr15:30892305-30892850	NONHSAT140224
40	lnc-AC026150.9.1-1	chr15:30832296-30832742	ENSG00000260693.1
41	lnc-AC026150.9.1-1	chr15:30838015-30838172	ENSG00000260693.1
42	lnc-RP11-382B18.2.1-2	chr15:30679087-30679190	NONHSAT041347
43	lnc-RP11-382B18.2.1-1	chr15:30909201-30909447	ENSG00000247728.2
44	lnc-RP11-382B18.2.1-3	chr15:30899898-30900396	ENSG00000270016.1
45	lnc-CHRNA7-2	chr15:30888863-30889187	NONHSAT041367
46	lnc-CHRNA7-2	chr15:30865172-30865219	NONHSAT041368

No data

Variant related genes	Relation type
ENSG00000270016	TF binding region
ENSG00000221723	TF binding region
ENSG00000221593	TF binding region
ENSG00000207430	TF binding region
RN7SL196P	TF binding region
ULK4P2	TF binding region
RN7SL628P	TF binding region
GOLGA8H	TF binding region
ARHGAP11B	TF binding region
ENSG00000269930	TF binding region
RNU6-17P	TF binding region
ENSG00000247728	TF binding region
ENSG00000270055	TF binding region
ENSG00000238519	TF binding region
ENSG00000260693	TF binding region
GOLGA8R	TF binding region
RN7SL796P	TF binding region
DNM1P50	TF binding region
ENSG00000238783	TF binding region
ENSG00000263070	TF binding region
ENSG00000225930	TF binding region
ENSG00000260784	TF binding region
ENSG00000270955	TF binding region
ENSG00000270173	TF binding region
ENSG00000252602	TF binding region
ENSG00000271333	TF binding region
ENSG00000215302	TF binding region
ENSG00000221358	TF binding region
ENSG00000259993	TF binding region
GOLGA8Q	TF binding region
CHRFAM7A	TF binding region
ENSG00000270016	CpG island
ENSG00000221723	CpG island
ENSG00000221593	CpG island
ENSG00000207430	CpG island
RN7SL196P	CpG island
ULK4P2	CpG island
RN7SL628P	CpG island
GOLGA8H	CpG island
ARHGAP11B	CpG island
ENSG00000269930	CpG island
RNU6-17P	CpG island
ENSG00000247728	CpG island
ENSG00000270055	CpG island
ENSG00000238519	CpG island
ENSG00000260693	CpG island
GOLGA8R	CpG island
RN7SL796P	CpG island
DNM1P50	CpG island
ENSG00000238783	CpG island
ENSG00000263070	CpG island
ENSG00000225930	CpG island
ENSG00000260784	CpG island
ENSG00000270955	CpG island
ENSG00000270173	CpG island
ENSG00000252602	CpG island
ENSG00000271333	CpG island
ENSG00000215302	CpG island
ENSG00000221358	CpG island
ENSG00000259993	CpG island
GOLGA8Q	CpG island
CHRFAM7A	CpG island
ENSG00000244952	chromatin interactions
ENSG00000262728	chromatin interactions
ENSG00000198826	chromatin interactions
ENSG00000135916	chromatin interactions
TGFB2	miRNA target sites
PRKAB2	miRNA target sites

Extended variants
information (count: 2810 )
Associated
traits (count: 146 )

Variant overlapped rSNPs/rCNVs (count:2810 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62018661	chr15:30502662-30502663	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs548011359	chr15:30502702-30502703	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs567746801	chr15:30502717-30502718	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs188463540	chr15:30502737-30502738	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs200224071	chr15:30502794-30502795	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs530990012	chr15:30502878-30502879	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs536383015	chr15:30502920-30502921	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs549914833	chr15:30502935-30502936	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs201540836	chr15:30503007-30503008	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs538639147	chr15:30503016-30503017	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs199868835	chr15:30503055-30503056	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs572344810	chr15:30503460-30503461	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs1502162	chr15:30503465-30503466	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs534598404	chr15:30503490-30503491	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs554777148	chr15:30503502-30503503	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs574314099	chr15:30503636-30503637	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs543179240	chr15:30503637-30503638	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs562653728	chr15:30503645-30503646	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs576081651	chr15:30503688-30503689	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs545433313	chr15:30503702-30503703	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs565127251	chr15:30503744-30503745	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs372123264	chr15:30503873-30503874	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs541344040	chr15:30503909-30503910	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs528723260	chr15:30503932-30503933	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs370174999	chr15:30503934-30503935	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs561528312	chr15:30503936-30503937	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs530324848	chr15:30503937-30503938	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs180838338	chr15:30503949-30503950	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs368854155	chr15:30503953-30503954	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs183625152	chr15:30503954-30503955	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs532235851	chr15:30503974-30503975	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs552182658	chr15:30504001-30504002	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs565517488	chr15:30504096-30504097	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs534582592	chr15:30504116-30504117	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs554584097	chr15:30504139-30504140	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs567974272	chr15:30504449-30504450	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs536852576	chr15:30504515-30504516	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs556735553	chr15:30504523-30504524	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs576172323	chr15:30504528-30504529	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs545157901	chr15:30504619-30504620	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs201455524	chr15:30504646-30504647	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs150208449	chr15:30504729-30504730	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs572372788	chr15:30504857-30504858	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs62018662	chr15:30504895-30504896	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs561568785	chr15:30504984-30504985	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs530412335	chr15:30505076-30505077	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs544068680	chr15:30505097-30505098	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs199928543	chr15:30505209-30505210	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs563855799	chr15:30505214-30505215	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs189844037	chr15:30505241-30505242	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:146)

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
Neuropsychiatric disorder	20506139	CNVD
Austim spectrum disorder	21302340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	18496225	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
small cell lung cancer	20016488	CNVD
Epilepsy	20502679	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Intellectual disability	21811512	CNVD
Glioma	20126413	CNVD

Chromatin state (count:781 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30507200-30507600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr15:30515200-30515600	Active TSS	Ovary	ovary
3	chr15:30515200-30515600	Active TSS	Psoas Muscle	Psoas
4	chr15:30515200-30515600	Active TSS	Right Atrium	heart
5	chr15:30515200-30515600	Active TSS	Right Ventricle	heart
6	chr15:30515600-30515800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr15:30515600-30515800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:30515600-30515800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr15:30515600-30515800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:30515600-30515800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr15:30515600-30516000	Enhancers	Lung	lung
12	chr15:30515800-30516000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr15:30517400-30517600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:30517400-30517800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:30517400-30518000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:30517400-30518000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:30517600-30517800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:30517600-30518000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr15:30517600-30518000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:30517800-30518000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr15:30517800-30518000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:30517800-30518000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr15:30517800-30518000	Bivalent Enhancer	Fetal Brain Male	brain
24	chr15:30518000-30518200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr15:30618200-30618400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr15:30618200-30618400	Active TSS	H9 Cell Line	embryonic stem cell
27	chr15:30618200-30618400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr15:30618200-30618400	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr15:30618200-30618400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr15:30618200-30618600	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr15:30618200-30618800	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr15:30618200-30618800	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr15:30618200-30618800	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr15:30618200-30618800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:30618200-30618800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
36	chr15:30618400-30618600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
37	chr15:30618400-30618600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr15:30618400-30618600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:30618400-30618600	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
40	chr15:30618400-30618600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
41	chr15:30618400-30618600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
42	chr15:30618400-30618600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr15:30618400-30618600	Flanking Bivalent TSS/Enh	A549	lung
44	chr15:30618400-30618800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr15:30618600-30618800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr15:30618600-30618800	Active TSS	H9 Cell Line	embryonic stem cell
47	chr15:30618600-30618800	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr15:30618600-30618800	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr15:30618600-30618800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr15:30653800-30661000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links