Variant report

Variant	nsv1042426
Chromosome Location	chr15:30386399-30936285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3660)
CpG islands
(count:3051)
Chromatin interactive
region (count:3)
LncRNA
region (count:55)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3660 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

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	ATF1	chr15:30917774-30918461	K562	blood:	n/a	n/a
4	ATF2	chr15:30917709-30918426	GM12878	blood:	n/a	n/a
5	ATF2	chr15:30918103-30918425	H1-hESC	embryonic stem cell:	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	BACH1	chr15:30396041-30396079	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr15:30829434-30829723	GM12878	blood:	n/a	n/a
11	BATF	chr15:30880957-30881265	GM12878	blood:	n/a	n/a
12	BATF	chr15:30678661-30679029	GM12878	blood:	n/a	chr15:30678848-30678858 chr15:30678844-30678854
13	BATF	chr15:30717393-30718193	GM12878	blood:	n/a	n/a
14	BATF	chr15:30402704-30403029	GM12878	blood:	n/a	chr15:30402836-30402847 chr15:30402837-30402847 chr15:30402841-30402851
15	BATF	chr15:30765283-30765578	GM12878	blood:	n/a	n/a
16	BATF	chr15:30389801-30390448	GM12878	blood:	n/a	n/a
17	BATF	chr15:30442191-30442458	GM12878	blood:	n/a	n/a
18	BATF	chr15:30871617-30871985	GM12878	blood:	n/a	chr15:30871822-30871833 chr15:30871827-30871837 chr15:30871823-30871833
19	BATF	chr15:30793879-30794120	GM12878	blood:	n/a	n/a
20	BATF	chr15:30793866-30794121	GM12878	blood:	n/a	n/a
21	BATF	chr15:30832413-30833670	GM12878	blood:	n/a	chr15:30833063-30833074
22	BATF	chr15:30428014-30428211	GM12878	blood:	n/a	n/a
23	BATF	chr15:30832414-30833216	GM12878	blood:	n/a	chr15:30833063-30833074
24	BATF	chr15:30459001-30459247	GM12878	blood:	n/a	n/a
25	BATF	chr15:30691171-30691739	GM12878	blood:	n/a	n/a
26	BATF	chr15:30765290-30765504	GM12878	blood:	n/a	n/a
27	BATF	chr15:30871690-30872015	GM12878	blood:	n/a	chr15:30871822-30871833 chr15:30871827-30871837 chr15:30871823-30871833
28	BATF	chr15:30763589-30764924	GM12878	blood:	n/a	n/a
29	BATF	chr15:30881037-30881316	GM12878	blood:	n/a	n/a
30	BATF	chr15:30411972-30412280	GM12878	blood:	n/a	n/a
31	BATF	chr15:30626371-30626674	GM12878	blood:	n/a	chr15:30626595-30626606
32	BATF	chr15:30917720-30918566	GM12878	blood:	n/a	n/a
33	BATF	chr15:30411642-30411805	GM12878	blood:	n/a	n/a
34	BATF	chr15:30858799-30859444	GM12878	blood:	n/a	n/a
35	BATF	chr15:30458984-30459268	GM12878	blood:	n/a	n/a
36	BATF	chr15:30402631-30402999	GM12878	blood:	n/a	chr15:30402836-30402847 chr15:30402837-30402847 chr15:30402841-30402851
37	BATF	chr15:30626382-30626790	GM12878	blood:	n/a	chr15:30626595-30626606
38	BATF	chr15:30678631-30678956	GM12878	blood:	n/a	chr15:30678848-30678858 chr15:30678844-30678854
39	BATF	chr15:30412052-30412331	GM12878	blood:	n/a	n/a
40	BATF	chr15:30720885-30721174	GM12878	blood:	n/a	n/a
41	BATF	chr15:30717407-30718307	GM12878	blood:	n/a	n/a
42	BATF	chr15:30763776-30764872	GM12878	blood:	n/a	n/a
43	BATF	chr15:30763002-30763213	GM12878	blood:	n/a	n/a
44	BATF	chr15:30716939-30717383	GM12878	blood:	n/a	n/a
45	BCL11A	chr15:30441259-30441499	GM12878	blood:	n/a	n/a
46	BCL11A	chr15:30763771-30764696	GM12878	blood:	n/a	n/a
47	BCL11A	chr15:30917933-30918639	GM12878	blood:	n/a	chr15:30918103-30918112 chr15:30918531-30918544
48	BCL11A	chr15:30390006-30390348	GM12878	blood:	n/a	chr15:30390232-30390245
49	BCL11A	chr15:30402651-30402946	GM12878	blood:	n/a	chr15:30402839-30402848 chr15:30402794-30402803
50	BCL11A	chr15:30469390-30469696	GM12878	blood:	n/a	n/a

(count:3051 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:30918339-30918389	HEEpiC	esophagus:	n/a
2	chr15:30918339-30918389	HEEpiC	esophagus:	n/a
3	chr15:30489014-30489064	AG04450	lung:	fetal
4	chr15:30396121-30396171	CMK	blood:	n/a
5	chr15:30930499-30930549	HEK293	kidney:	embryo
6	chr15:30517601-30517651	NHBE	bronchial:	n/a
7	chr15:30520018-30520068	PANC-1	pancreas:	n/a
8	chr15:30520018-30520068	NT2-D1	testis:	n/a
9	chr15:30486767-30486817	GM06990	blood:	n/a
10	chr15:30917991-30918041	AG10803	skin:	n/a
11	chr15:30700112-30700162	GM06990	blood:	n/a
12	chr15:30917958-30918008	H1-hESC	embryonic stem cell:	embryo
13	chr15:30484753-30484803	HIPEpiC	eye:	n/a
14	chr15:30489014-30489064	Caco-2	colon:	n/a
15	chr15:30489014-30489064	HCM	heart:	n/a
16	chr15:30866091-30866141	HNPCEpiC	eye:	n/a
17	chr15:30861172-30861222	MCF10A-Er-Src	breast:	n/a
18	chr15:30677804-30677854	HUVEC	blood vessel:	n/a
19	chr15:30918339-30918389	GM12878	blood:	n/a
20	chr15:30515162-30515212	SK-N-SH	brain:	n/a
21	chr15:30865191-30865241	HUVEC	blood vessel:	n/a
22	chr15:30919020-30919070	AG09309	skin:	n/a
23	chr15:30517589-30517639	NHDF-neo	bronchial:	n/a
24	chr15:30518064-30518114	SKMC	muscle:	n/a
25	chr15:30516906-30516956	HL-60	blood:	n/a
26	chr15:30763484-30763534	LNCaP	prostate:	n/a
27	chr15:30919014-30919064	HCF	heart:	n/a
28	chr15:30917918-30917968	Hepatocyte	liver:	n/a
29	chr15:30516906-30516956	ovcar-3	ovarian:	n/a
30	chr15:30486767-30486817	A549	lung:	n/a
31	chr15:30486767-30486817	H1-hESC	embryonic stem cell:	embryo
32	chr15:30918339-30918389	AoSMC	blood vessel:	n/a
33	chr15:30896216-30896266	GM06990	blood:	n/a
34	chr15:30515162-30515212	Hela-S3	cervix:	n/a
35	chr15:30919014-30919064	GM12891	blood:	n/a
36	chr15:30396500-30396550	PrEC	prostate:	n/a
37	chr15:30489014-30489064	AG09309	skin:	n/a
38	chr15:30489014-30489064	NHDF-neo	bronchial:	n/a
39	chr15:30917918-30917968	HIPEpiC	eye:	n/a
40	chr15:30515162-30515212	AG04450	lung:	fetal
41	chr15:30396121-30396171	GM06990	blood:	n/a
42	chr15:30930499-30930549	HMEC	breast:	n/a
43	chr15:30435199-30435249	H1-hESC	embryonic stem cell:	embryo
44	chr15:30516906-30516956	BJ	skin:	n/a
45	chr15:30918595-30918645	HCPEpiC	choroid plexus:	n/a
46	chr15:30896060-30896110	Hela-S3	cervix:	n/a
47	chr15:30435199-30435249	HCF	heart:	n/a
48	chr15:30435199-30435249	K562	blood:	n/a
49	chr15:30930499-30930549	AG04450	lung:	fetal
50	chr15:30487914-30487964	CMK	blood:	n/a

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

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

(count:55 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARHGAP11B-1	chr15:30916697-30916815	NONHSAT041376
2	lnc-AC026150.9.1-1	chr15:30838015-30838172	ENSG00000260693.1
3	lnc-AC026150.9.1-1	chr15:30832296-30832742	ENSG00000260693.1
4	lnc-CHRNA7-2	chr15:30871491-30871615	NONHSAT041368
5	lnc-CHRFAM7A-1	chr15:30471079-30472146	ENSG00000259906.1
6	lnc-RP5-1086D14.3.1-1	chr15:30491478-30491534	ENSG00000225930.3
7	lnc-ARHGAP11B-1	chr15:30917557-30918469	NONHSAT041376
8	lnc-CHRNA7-2	chr15:30888863-30888941	NONHSAT041366
9	lnc-CHRNA7-2	chr15:30865172-30865219	NONHSAT140224
10	lnc-CHRFAM7A-3	chr15:30697514-30697792	NONHSAT041354
11	lnc-RP11-382B18.2.1-2	chr15:30679066-30679190	NONHSAT041348
12	lnc-RP11-382B18.2.1-1	chr15:30857143-30857384	ENSG00000247728
13	lnc-CHRNA7-2	chr15:30892305-30892911	NONHSAT041366
14	lnc-AC026150.9.1-1	chr15:30836768-30836863	ENSG00000260693.1
15	lnc-RP5-1086D14.3.1-1	chr15:30488239-30488317	ENSG00000225930.3
16	lnc-RP11-382B18.2.1-2	chr15:30679087-30679190	NONHSAT041347
17	lnc-CHRNA7-2	chr15:30888863-30888941	NONHSAT140224
18	lnc-CHRFAM7A-2	chr15:30649969-30650976	ENSG00000270173.1
19	lnc-RP5-1086D14.3.1-1	chr15:30502611-30503009	ENSG00000225930.2
20	lnc-CHRFAM7A-1	chr15:30462766-30462831	ENSG00000259906.1
21	lnc-RP11-382B18.2.1-1	chr15:30909201-30909447	ENSG00000247728.2
22	lnc-CHRNA7-2	chr15:30864758-30864774	NONHSAT041366
23	lnc-CHRNA7-2	chr15:30888863-30888941	NONHSAT041368
24	lnc-RP5-1086D14.3.1-1	chr15:30488239-30488317	ENSG00000225930.2
25	lnc-AC120045.3-2	chr15:30435925-30436203	NONHSAT041332
26	lnc-CHRNA7-2	chr15:30871491-30871615	NONHSAT041366
27	lnc-RP11-382B18.2.1-1	chr15:30917254-30917976	ENSG00000247728.2
28	lnc-RP11-382B18.2.1-2	chr15:30675247-30675585	NONHSAT041348
29	lnc-CHRNA7-2	chr15:30888863-30889187	NONHSAT041367
30	lnc-CHRFAM7A-1	chr15:30462912-30462975	ENSG00000259906.1
31	lnc-CHRNA7-2	chr15:30865172-30865219	NONHSAT041368
32	lnc-CHRNA7-2	chr15:30892305-30892850	NONHSAT140224
33	lnc-RP11-382B18.2.1-1	chr15:30917254-30917976	ENSG00000247728
34	lnc-AC026150.9.1-5	chr15:30702037-30703662	NONHSAT041356
35	lnc-CHRNA7-2	chr15:30871491-30871615	NONHSAT140224
36	lnc-CHRNA7-2	chr15:30871491-30871615	NONHSAT041367
37	lnc-CHRNA7-2	chr15:30865172-30865219	NONHSAT041366
38	lnc-ARHGAP11B-2	chr15:30904916-30905194	NONHSAT041372
39	lnc-CHRNA7-2	chr15:30875097-30875160	NONHSAT041368
40	lnc-AC026150.9.1-4	chr15:30749372-30751192	ucscGeneNc_uc001zhb_2
41	lnc-RP5-1086D14.3.1-1	chr15:30502620-30504471	ENSG00000225930.2
42	lnc-CHRNA7-2	chr15:30878081-30878127	NONHSAT041368
43	lnc-GOLGA8H-1	chr15:30909161-30909952	ENSG00000269930.1
44	lnc-RP11-382B18.2.1-3	chr15:30899898-30900396	ENSG00000270016.1
45	lnc-AC026150.9.1-3	chr15:30780166-30782516	ENSG00000270055.1
46	lnc-ARHGAP11B-1	chr15:30916926-30917019	NONHSAT041376
47	lnc-CHRNA7-2	chr15:30892305-30892900	NONHSAT041368
48	lnc-CHRNA7-2	chr15:30865088-30865219	NONHSAT041367
49	lnc-RP5-1086D14.3.1-1	chr15:30502620-30506743	ENSG00000225930.3
50	lnc-RP5-1086D14.3.1-1	chr15:30491478-30491534	ENSG00000225930.2

No data

Variant related genes	Relation type
ENSG00000221593	TF binding region
ENSG00000207430	TF binding region
RN7SL196P	TF binding region
RN7SL628P	TF binding region
GOLGA8H	TF binding region
ULK4P3	TF binding region
ARHGAP11B	TF binding region
RNU6-17P	TF binding region
ENSG00000247728	TF binding region
RN7SL469P	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
ENSG00000270173	TF binding region
ENSG00000252602	TF binding region
ENSG00000271333	TF binding region
ENSG00000215302	TF binding region
ENSG00000221785	TF binding region
CHRFAM7A	TF binding region
ENSG00000261747	TF binding region
ENSG00000270016	TF binding region
ENSG00000221723	TF binding region
ENSG00000207432	TF binding region
ULK4P2	TF binding region
GOLGA8T	TF binding region
DNM1P30	TF binding region
ENSG00000269930	TF binding region
ENSG00000269974	TF binding region
ENSG00000259906	TF binding region
ENSG00000270055	TF binding region
DNM1P28	TF binding region
ENSG00000270955	TF binding region
ENSG00000221358	TF binding region
ENSG00000259993	TF binding region
GOLGA8Q	TF binding region
ENSG00000221593	CpG island
ENSG00000207430	CpG island
RN7SL196P	CpG island
RN7SL628P	CpG island
GOLGA8H	CpG island
ULK4P3	CpG island
ARHGAP11B	CpG island
RNU6-17P	CpG island
ENSG00000247728	CpG island
RN7SL469P	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
ENSG00000270173	CpG island
ENSG00000252602	CpG island
ENSG00000271333	CpG island
ENSG00000215302	CpG island
ENSG00000221785	CpG island
CHRFAM7A	CpG island
ENSG00000261747	CpG island
ENSG00000270016	CpG island
ENSG00000221723	CpG island
ENSG00000207432	CpG island
ULK4P2	CpG island
GOLGA8T	CpG island
DNM1P30	CpG island
ENSG00000269930	CpG island
ENSG00000269974	CpG island
ENSG00000259906	CpG island
ENSG00000270055	CpG island
DNM1P28	CpG island
ENSG00000270955	CpG island
ENSG00000221358	CpG island
ENSG00000259993	CpG island
GOLGA8Q	CpG island
ENSG00000244952	chromatin interactions
ENSG00000198826	chromatin interactions
ENSG00000262728	chromatin interactions
ENSG00000135916	chromatin interactions
PRKAB2	miRNA target sites
TGFB2	miRNA target sites

Extended variants
information (count: 3329 )
Associated
traits (count: 150 )

Variant overlapped rSNPs/rCNVs (count:3329 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112383969	chr15:30394103-30394104	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs28607330	chr15:30395614-30395615	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs62016990	chr15:30396042-30396043	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs560801380	chr15:30396089-30396090	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs75844411	chr15:30396121-30396122	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs529783014	chr15:30396138-30396139	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs543455013	chr15:30396144-30396145	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs563231993	chr15:30396211-30396212	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs184398585	chr15:30396482-30396483	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs532448763	chr15:30396485-30396486	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs552496102	chr15:30396503-30396504	Active TSS Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs369759845	chr15:30396677-30396678	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs373496688	chr15:30396687-30396688	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs548338995	chr15:30396711-30396712	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs375661085	chr15:30396724-30396725	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs567670738	chr15:30396759-30396760	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs28734505	chr15:30396846-30396847	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs536307750	chr15:30396849-30396850	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs111628587	chr15:30396876-30396877	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs558973798	chr15:30398165-30398166	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs572631273	chr15:30398222-30398223	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs28874369	chr15:30398233-30398234	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs28517418	chr15:30402721-30402722	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs28515646	chr15:30402728-30402729	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs62017005	chr15:30402801-30402802	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs575782796	chr15:30422429-30422430	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs544634727	chr15:30422432-30422433	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs148703573	chr15:30422450-30422451	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs144508569	chr15:30422542-30422543	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs147421125	chr15:30422552-30422553	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs139461475	chr15:30422554-30422555	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs529429260	chr15:30422619-30422620	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs112857201	chr15:30423372-30423373	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs111426407	chr15:30423502-30423503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs534866360	chr15:30424411-30424412	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs369040210	chr15:30424412-30424413	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs559300933	chr15:30424440-30424441	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs529873077	chr15:30424484-30424485	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs562263539	chr15:30424536-30424537	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs554020505	chr15:30432225-30432226	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs573965476	chr15:30432226-30432227	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs373617934	chr15:30432239-30432240	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs542827556	chr15:30432315-30432316	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs562701546	chr15:30432332-30432333	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs545117413	chr15:30432948-30432949	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs564853197	chr15:30433015-30433016	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs367757676	chr15:30433028-30433029	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs540677482	chr15:30433070-30433071	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs560816978	chr15:30433082-30433083	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs530060323	chr15:30433105-30433106	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:150)

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	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
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:1107 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30395800-30396000	Active TSS	HMEC	breast
2	chr15:30395800-30396200	Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr15:30395800-30396200	Active TSS	Primary B cells from peripheral blood	blood
4	chr15:30395800-30396200	Active TSS	Colonic Mucosa	Colon
5	chr15:30395800-30396200	Active TSS	Gastric	stomach
6	chr15:30395800-30396400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:30395800-30396400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:30395800-30396400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr15:30395800-30396400	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr15:30395800-30396400	Active TSS	Muscle Satellite Cultured Cells	--
11	chr15:30395800-30396400	Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr15:30395800-30396400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr15:30395800-30396400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:30395800-30396400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:30395800-30396400	Active TSS	Adipose Nuclei	Adipose
16	chr15:30395800-30396400	Active TSS	Esophagus	oesophagus
17	chr15:30395800-30396400	Active TSS	Fetal Brain Female	brain
18	chr15:30395800-30396400	Bivalent/Poised TSS	Fetal Stomach	stomach
19	chr15:30395800-30396400	Active TSS	Left Ventricle	heart
20	chr15:30395800-30396400	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr15:30395800-30396400	Active TSS	Right Atrium	heart
22	chr15:30395800-30396400	Active TSS	Right Ventricle	heart
23	chr15:30395800-30396400	Active TSS	Thymus	Thymus
24	chr15:30395800-30396400	Active TSS	Spleen	Spleen
25	chr15:30395800-30396400	Active TSS	HepG2	liver
26	chr15:30395800-30396400	Active TSS	Monocytes-CD14+_RO01746	blood
27	chr15:30395800-30396600	Active TSS	H1 Cell Line	embryonic stem cell
28	chr15:30395800-30396600	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr15:30395800-30396600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr15:30395800-30396600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:30395800-30396600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr15:30395800-30396600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:30395800-30396600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr15:30395800-30396600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:30395800-30396600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr15:30395800-30396600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:30395800-30396600	Active TSS	Pancreas	Pancrea
38	chr15:30395800-30396600	Active TSS	HUVEC	blood vessel
39	chr15:30395800-30396800	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr15:30395800-30396800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:30396000-30396200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr15:30396000-30396200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr15:30396000-30396200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr15:30396000-30396200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
45	chr15:30396000-30396200	Enhancers	Ovary	ovary
46	chr15:30396000-30396200	Enhancers	Small Intestine	intestine
47	chr15:30396000-30396200	Flanking Active TSS	HMEC	breast
48	chr15:30396000-30396400	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr15:30396000-30396400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr15:30396000-30396400	Active TSS	iPS-15b Cell Line	embryonic stem cell

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