Variant report

Variant	esv3366380
Chromosome Location	chr15:56003224-56141650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:56035308-56035658	HepG2	liver:	n/a	n/a
2	ARID3A	chr15:56091979-56092256	HepG2	liver:	n/a	n/a
3	ARID3A	chr15:56138412-56138575	HepG2	liver:	n/a	n/a
4	ATF1	chr15:56121588-56121647	K562	blood:	n/a	n/a
5	BACH1	chr15:56034376-56035496	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr15:56122008-56122411	GM12878	blood:	n/a	n/a
7	BATF	chr15:56122033-56122344	GM12878	blood:	n/a	n/a
8	BCL11A	chr15:56123669-56123981	GM12878	blood:	n/a	n/a
9	BCL3	chr15:56035153-56035731	A549	lung:	n/a	chr15:56035353-56035366 chr15:56035187-56035196 chr15:56035494-56035507 chr15:56035181-56035194 chr15:56035392-56035405 chr15:56035391-56035404 chr15:56035701-56035714 chr15:56035601-56035610 chr15:56035373-56035382 chr15:56035394-56035407
10	BHLHE40	chr15:56034537-56034723	GM12878	blood:	n/a	chr15:56034581-56034597
11	BHLHE40	chr15:56122063-56122311	GM12878	blood:	n/a	n/a
12	BHLHE40	chr15:56092059-56092255	GM12878	blood:	n/a	n/a
13	BHLHE40	chr15:56034446-56034746	HepG2	liver:	n/a	chr15:56034581-56034597
14	BHLHE40	chr15:56091977-56092269	HepG2	liver:	n/a	n/a
15	BHLHE40	chr15:56072790-56072921	K562	blood:	n/a	chr15:56072847-56072856 chr15:56072847-56072856
16	BRCA1	chr15:56091986-56092171	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr15:56035120-56035522	Hela-S3	cervix:	n/a	chr15:56035306-56035315
18	BRCA1	chr15:56066554-56066810	H1-hESC	embryonic stem cell:	n/a	chr15:56066735-56066742
19	BRCA1	chr15:56083712-56084292	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr15:56035121-56035493	H1-hESC	embryonic stem cell:	n/a	chr15:56035306-56035315
21	BRCA1	chr15:56034160-56034637	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr15:56049246-56049337	H1-hESC	embryonic stem cell:	n/a	n/a
23	BRCA1	chr15:56035120-56035618	HepG2	liver:	n/a	chr15:56035306-56035315
24	CBX3	chr15:56086244-56086538	K562	blood:	n/a	n/a
25	CEBPB	chr15:56091566-56091876	HepG2	liver:	n/a	chr15:56091718-56091729
26	CEBPB	chr15:56067394-56067958	MCF-7	breast:	n/a	chr15:56067620-56067633 chr15:56067620-56067633
27	CEBPB	chr15:56077868-56078024	Hela-S3	cervix:	n/a	chr15:56077983-56077994
28	CEBPB	chr15:56077857-56078048	A549	lung:	n/a	chr15:56077983-56077994
29	CEBPB	chr15:56067383-56068007	Hela-S3	cervix:	n/a	chr15:56067620-56067633 chr15:56067620-56067633
30	CEBPB	chr15:56115233-56115675	A549	lung:	n/a	chr15:56115495-56115504 chr15:56115493-56115506 chr15:56115338-56115351 chr15:56115495-56115506 chr15:56115495-56115504 chr15:56115495-56115504 chr15:56115493-56115504 chr15:56115495-56115506 chr15:56115493-56115506 chr15:56115493-56115506 chr15:56115495-56115504
31	CEBPB	chr15:56040410-56040428	HepG2	liver:	n/a	chr15:56040416-56040427
32	CEBPB	chr15:56106653-56106861	HepG2	liver:	n/a	chr15:56106670-56106681
33	CEBPB	chr15:56050818-56051016	K562	blood:	n/a	n/a
34	CEBPB	chr15:56034423-56035080	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr15:56042945-56043273	HepG2	liver:	n/a	chr15:56043125-56043136 chr15:56043109-56043120
36	CEBPB	chr15:56083661-56084460	Hela-S3	cervix:	n/a	chr15:56084387-56084399
37	CEBPB	chr15:56115263-56115794	ECC-1	luminal epithelium:	n/a	chr15:56115495-56115504 chr15:56115493-56115506 chr15:56115338-56115351 chr15:56115495-56115506 chr15:56115495-56115504 chr15:56115495-56115504 chr15:56115493-56115504 chr15:56115495-56115506 chr15:56115493-56115506 chr15:56115493-56115506 chr15:56115495-56115504
38	CEBPB	chr15:56067372-56067821	MCF-7	breast:	n/a	chr15:56067620-56067633 chr15:56067620-56067633
39	CEBPB	chr15:56055568-56055701	HepG2	liver:	n/a	n/a
40	CEBPB	chr15:56042992-56043192	A549	lung:	n/a	chr15:56043125-56043136 chr15:56043109-56043120
41	CEBPB	chr15:56091704-56091749	K562	blood:	n/a	chr15:56091718-56091729
42	CEBPB	chr15:56088794-56089160	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr15:56031587-56031776	A549	lung:	n/a	chr15:56031629-56031640 chr15:56031631-56031642 chr15:56031629-56031642
44	CEBPB	chr15:56118908-56118995	K562	blood:	n/a	chr15:56118921-56118932 chr15:56118921-56118934
45	CEBPB	chr15:56115337-56115741	ECC-1	luminal epithelium:	n/a	chr15:56115495-56115504 chr15:56115493-56115506 chr15:56115338-56115351 chr15:56115495-56115506 chr15:56115495-56115504 chr15:56115495-56115504 chr15:56115493-56115504 chr15:56115495-56115506 chr15:56115493-56115506 chr15:56115493-56115506 chr15:56115495-56115504
46	CEBPB	chr15:56105341-56105574	K562	blood:	n/a	chr15:56105492-56105503
47	CEBPB	chr15:56134422-56134597	HepG2	liver:	n/a	n/a
48	CEBPB	chr15:56049149-56049299	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr15:56115307-56115643	A549	lung:	n/a	chr15:56115495-56115504 chr15:56115493-56115506 chr15:56115338-56115351 chr15:56115495-56115506 chr15:56115495-56115504 chr15:56115495-56115504 chr15:56115493-56115504 chr15:56115495-56115506 chr15:56115493-56115506 chr15:56115493-56115506 chr15:56115495-56115504
50	CEBPB	chr15:56115275-56115669	HepG2	liver:	n/a	chr15:56115495-56115504 chr15:56115493-56115506 chr15:56115338-56115351 chr15:56115495-56115506 chr15:56115495-56115504 chr15:56115495-56115504 chr15:56115493-56115504 chr15:56115495-56115506 chr15:56115493-56115506 chr15:56115493-56115506 chr15:56115495-56115504

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:56035371-56035421	AG04450	lung:	fetal
2	chr15:56014697-56014747	GM12878	blood:	n/a
3	chr15:56035371-56035421	AG04450	lung:	fetal
4	chr15:56014697-56014747	GM12878	blood:	n/a
5	chr15:56033606-56033656	AG10803	skin:	n/a
6	chr15:56120298-56120348	HIPEpiC	eye:	n/a
7	chr15:56034020-56034070	HCM	heart:	n/a
8	chr15:56034020-56034070	PANC-1	pancreas:	n/a
9	chr15:56034817-56034867	HNPCEpiC	eye:	n/a
10	chr15:56067413-56067463	AG10803	skin:	n/a
11	chr15:56036455-56036505	NH-A	brain:	n/a
12	chr15:56034245-56034295	HepG2	liver:	n/a
13	chr15:56033728-56033778	AG10803	skin:	n/a
14	chr15:56035454-56035504	HMEC	breast:	n/a
15	chr15:56033606-56033656	AG04449	skin:	fetal
16	chr15:56038891-56038941	AG09309	skin:	n/a
17	chr15:56035459-56035509	SKMC	muscle:	n/a
18	chr15:56034020-56034070	HAEpiC	amniotic membrane:	n/a
19	chr15:56138634-56138684	BJ	skin:	n/a
20	chr15:56014697-56014747	HPAEpiC	pulmonary alveolar:	n/a
21	chr15:56035144-56035194	PANC-1	pancreas:	n/a
22	chr15:56035463-56035513	ECC-1	luminal epithelium:	n/a
23	chr15:56035371-56035421	AG04449	skin:	fetal
24	chr15:56138634-56138684	HMEC	breast:	n/a
25	chr15:56034817-56034867	AG04449	skin:	fetal
26	chr15:56034020-56034070	SK-N-MC	brain:	n/a
27	chr15:56120298-56120348	HPAEpiC	pulmonary alveolar:	n/a
28	chr15:56014697-56014747	HEK293	kidney:	embryo
29	chr15:56036455-56036505	BJ	skin:	n/a
30	chr15:56034245-56034295	HRCEpiC	kidney:	n/a
31	chr15:56138634-56138684	HIPEpiC	eye:	n/a
32	chr15:56035476-56035526	PrEC	prostate:	n/a
33	chr15:56035459-56035509	HMEC	breast:	n/a
34	chr15:56031778-56031828	AG04449	skin:	fetal
35	chr15:56067413-56067463	NHBE	bronchial:	n/a
36	chr15:56033728-56033778	H1-hESC	embryonic stem cell:	embryo
37	chr15:56091621-56091671	HEK293	kidney:	embryo
38	chr15:56035371-56035421	GM19239	blood:	n/a
39	chr15:56034817-56034867	AG10803	skin:	n/a
40	chr15:56014697-56014747	GM12892	blood:	n/a
41	chr15:56067413-56067463	NB4	blood:	n/a
42	chr15:56035476-56035526	PFSK-1	brain:	n/a
43	chr15:56034245-56034295	PrEC	prostate:	n/a
44	chr15:56034020-56034070	ProgFib	skin:	n/a
45	chr15:56035616-56035666	AG04450	lung:	fetal
46	chr15:56034801-56034851	BE2_C	brain:	n/a
47	chr15:56035616-56035666	ECC-1	luminal epithelium:	n/a
48	chr15:56036455-56036505	CMK	blood:	n/a
49	chr15:56038891-56038941	CMK	blood:	n/a
50	chr15:56138634-56138684	GM12892	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:56077249..56078804-chr15:56081657..56084527,2	MCF-7	breast:
2	chr15:56031905..56035384-chr15:56036677..56038977,3	MCF-7	breast:
3	chr15:56066228..56069099-chr15:56088720..56091536,3	MCF-7	breast:
4	chr15:55940259..55941893-chr15:56091674..56092667,4	K562	blood:
5	chr15:56138547..56140362-chr15:56145607..56147733,2	MCF-7	breast:
6	chr15:56053448..56056343-chr15:56061329..56062999,2	K562	blood:
7	chr15:55940223..55941251-chr15:56138147..56138992,3	MCF-7	breast:
8	chr15:56066228..56069099-chr15:56088720..56091536,3	MCF-7	breast:
9	chr15:56065566..56070771-chr15:56079598..56082669,5	MCF-7	breast:
10	chr15:55940303..55941439-chr15:56091892..56092613,4	MCF-7	breast:
11	chr15:56091891..56092629-chr15:56138007..56138913,2	MCF-7	breast:
12	chr15:56114839..56117156-chr15:56117660..56120029,2	MCF-7	breast:
13	chr15:56066629..56067204-chr15:56720771..56721659,2	K562	blood:
14	chr15:56061686..56064215-chr15:56064871..56066642,2	MCF-7	breast:
15	chr15:55939872..55941462-chr15:56091567..56092720,22	MCF-7	breast:
16	chr15:56002955..56005054-chr15:56005105..56008036,2	MCF-7	breast:
17	chr15:56033858..56036761-chr15:56051440..56053715,2	MCF-7	breast:
18	chr15:55940297..55941155-chr15:56138005..56138994,3	K562	blood:
19	chr15:56036934..56038667-chr15:56040692..56043124,2	K562	blood:
20	chr15:56090139..56092920-chr15:56116409..56118129,2	K562	blood:
21	chr15:56077249..56078804-chr15:56081657..56084527,2	MCF-7	breast:
22	chr15:56034248..56036795-chr15:56038057..56039658,2	MCF-7	breast:
23	chr15:56034111..56036011-chr15:56065913..56067538,2	MCF-7	breast:
24	chr15:56035867..56037850-chr15:56069521..56071241,2	MCF-7	breast:
25	chr15:55957804..55959845-chr15:56026147..56028031,2	MCF-7	breast:
26	chr15:56035905..56037422-chr15:56138325..56141165,2	MCF-7	breast:
27	chr15:56065566..56070771-chr15:56079598..56082669,5	MCF-7	breast:
28	chr14:105942237..105945036-chr15:56032333..56033833,2	MCF-7	breast:
29	chr15:55965960..55968011-chr15:56032220..56035162,2	MCF-7	breast:
30	chr15:56013890..56016353-chr15:56030511..56032311,2	MCF-7	breast:
31	chr15:56034641..56036360-chr15:56074127..56075631,2	MCF-7	breast:
32	chr15:56033747..56035690-chr15:56092424..56095396,4	MCF-7	breast:
33	chr15:56067671..56070376-chr17:56744893..56747884,2	MCF-7	breast:
34	chr15:56013890..56016353-chr15:56030511..56032311,2	MCF-7	breast:
35	chr15:56032752..56035214-chr15:56091096..56094057,2	MCF-7	breast:
36	chr15:56035867..56037850-chr15:56069521..56071241,2	MCF-7	breast:
37	chr15:55940663..55943471-chr15:56092171..56094031,2	MCF-7	breast:
38	chr15:56033858..56036761-chr15:56051440..56053715,2	MCF-7	breast:
39	chr15:56002955..56005054-chr15:56005105..56008036,2	MCF-7	breast:
40	chr15:55999212..56002187-chr15:56002535..56005637,3	K562	blood:
41	chr15:56119087..56120835-chr15:56131695..56134101,2	K562	blood:
42	chr15:56002613..56005532-chr15:56007469..56010222,2	K562	blood:
43	chr15:38985952..38986472-chr15:56138356..56138929,2	K562	blood:
44	chr15:56090139..56092920-chr15:56116409..56118129,2	K562	blood:
45	chr15:56114839..56117156-chr15:56117660..56120029,2	MCF-7	breast:
46	chr15:56033785..56035858-chr15:56048959..56050716,2	MCF-7	breast:
47	chr14:77141813..77142316-chr15:56091817..56092480,2	MCF-7	breast:
48	chr15:56034248..56036795-chr15:56038057..56039658,2	MCF-7	breast:
49	chr15:56034718..56037980-chr15:56081519..56084125,3	MCF-7	breast:
50	chr15:56033073..56035225-chr17:56708615..56710685,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRTG-1	chr15:56132925-56133413	expReg_chr15_4281_-
2	lnc-NEDD4-2	chr15:56030403-56030857	NONHSAT044007

No.	miRNA target gene	miRNA name	Chromosome Location
1	NEDD4	hsa-miR-590-3p	chr15:56122033-56122027
2	NEDD4	hsa-miR-30c-5p	chr15:56120972-56120994
3	NEDD4	hsa-miR-30c-5p	chr15:56121128-56121150
4	NEDD4	hsa-miR-30c-5p	chr15:56120978-56120972
5	NEDD4	hsa-miR-590-3p	chr15:56122027-56122046
6	NEDD4	hsa-miR-30c-5p	chr15:56121146-56121169
7	NEDD4	hsa-miR-30c-5p	chr15:56121152-56121145
8	NEDD4	hsa-miR-30c-5p	chr15:56121051-56121073
9	NEDD4	hsa-miR-30c-5p	chr15:56121468-56121490
10	NEDD4	hsa-miR-30c-5p	chr15:56121134-56121127
11	NEDD4	hsa-miR-590-3p	chr15:56119202-56119224

Variant related genes	Relation type
PRTG	TF binding region
ENSG00000221218	TF binding region
ENSG00000259369	TF binding region
PRTG	CpG island
ENSG00000221218	CpG island
ENSG00000259369	CpG island
ENSG00000166450	chromatin interactions
ENSG00000259369	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000171016	chromatin interactions
ENSG00000251484	chromatin interactions
ENSG00000221218	chromatin interactions
ENSG00000182809	chromatin interactions

Extended variants
information (count: 5812 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:5812 , 50 per page) page: 1 2 3 4 5 6 7 ... 117

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550761981	chr15:56003237-56003238	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184584996	chr15:56003249-56003250	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533108566	chr15:56003254-56003255	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs71476741	chr15:56003278-56003279	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111889081	chr15:56003279-56003280	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573384217	chr15:56003317-56003318	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544951535	chr15:56003325-56003326	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546711594	chr15:56003367-56003368	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547445447	chr15:56003400-56003401	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562465365	chr15:56003410-56003411	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs137868584	chr15:56003416-56003417	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548664379	chr15:56003509-56003510	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569541443	chr15:56003521-56003522	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142335734	chr15:56003532-56003533	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558374932	chr15:56003549-56003550	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577805550	chr15:56003553-56003554	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534060439	chr15:56003591-56003592	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553826896	chr15:56003604-56003605	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187375751	chr15:56003616-56003617	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192903174	chr15:56003653-56003654	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10851591	chr15:56003705-56003706	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs111874273	chr15:56003709-56003710	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145948362	chr15:56003722-56003723	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4354866	chr15:56003727-56003728	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564315184	chr15:56003750-56003751	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139864493	chr15:56003765-56003766	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540359658	chr15:56003766-56003767	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141683217	chr15:56003852-56003853	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528937744	chr15:56003878-56003879	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144526929	chr15:56003899-56003900	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185056840	chr15:56003901-56003902	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144040029	chr15:56003916-56003917	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148456870	chr15:56003928-56003929	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551641293	chr15:56003938-56003939	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142664777	chr15:56004000-56004001	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112115219	chr15:56004012-56004013	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs151014975	chr15:56004032-56004033	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375975634	chr15:56004075-56004076	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567758432	chr15:56004099-56004100	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565175459	chr15:56004118-56004119	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140636007	chr15:56004162-56004163	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557031822	chr15:56004218-56004219	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73408376	chr15:56004224-56004225	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs544531693	chr15:56004238-56004239	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116278803	chr15:56004259-56004260	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577980353	chr15:56004339-56004340	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115098477	chr15:56004350-56004351	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189516934	chr15:56004382-56004383	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147887035	chr15:56004388-56004389	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371920562	chr15:56004389-56004390	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
Melanoma	18172304	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
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	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
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Pancreatic cancer	17952125	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1726 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55996200-56015000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr15:55996400-56003400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:55996400-56007600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr15:55996600-56004800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr15:55996600-56005400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr15:55999000-56005000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr15:55999800-56028000	Weak transcription	Fetal Kidney	kidney
8	chr15:56001000-56007600	Weak transcription	Hela-S3	cervix
9	chr15:56001200-56007600	Weak transcription	HepG2	liver
10	chr15:56001800-56004000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:56002200-56003600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:56002200-56007400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr15:56002200-56014600	Weak transcription	A549	lung
14	chr15:56002600-56004000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:56002800-56003400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:56003000-56004000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr15:56003200-56003800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:56003400-56004000	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:56003400-56011400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:56003600-56004000	Enhancers	Right Atrium	heart
21	chr15:56003600-56004600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr15:56003800-56004000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr15:56003800-56008000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:56004000-56004400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:56004000-56007800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr15:56004000-56008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:56004000-56012800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr15:56004200-56004400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:56004400-56011000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:56004600-56004800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr15:56004800-56005600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr15:56005000-56005600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr15:56005400-56005800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr15:56005600-56005800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr15:56005600-56006200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:56005800-56006000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr15:56005800-56009800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
38	chr15:56006200-56007000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr15:56006600-56007800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr15:56006800-56008000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
41	chr15:56007000-56008000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr15:56007000-56009200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
43	chr15:56007000-56009600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr15:56007200-56008800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
45	chr15:56007400-56007600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
46	chr15:56007400-56008000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr15:56007400-56008000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr15:56007400-56008000	Enhancers	Fetal Lung	lung
49	chr15:56007400-56008000	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr15:56007400-56008400	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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