Variant report

Variant	nsv537881
Chromosome Location	chr5:118288904-118414706
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2674)
CpG islands
(count:1830)
Chromatin interactive
region (count:80)
LncRNA
region (count:33)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2674 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:118344676-118345351	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:118373367-118373495	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:118399250-118399579	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:118371810-118372099	K562	blood:	n/a	n/a
5	ARID3A	chr5:118406121-118406777	K562	blood:	n/a	n/a
6	ARID3A	chr5:118323657-118324653	HepG2	liver:	n/a	n/a
7	ARID3A	chr5:118399444-118399673	K562	blood:	n/a	n/a
8	ARID3A	chr5:118409996-118410235	K562	blood:	n/a	n/a
9	ARID3A	chr5:118395358-118395970	K562	blood:	n/a	n/a
10	ARID3A	chr5:118405742-118406993	HepG2	liver:	n/a	n/a
11	ARID3A	chr5:118325518-118325953	K562	blood:	n/a	n/a
12	ARID3A	chr5:118357701-118357973	HepG2	liver:	n/a	n/a
13	ARID3A	chr5:118407368-118407449	HepG2	liver:	n/a	n/a
14	ATF1	chr5:118324042-118324567	K562	blood:	n/a	n/a
15	ATF1	chr5:118395450-118395887	K562	blood:	n/a	n/a
16	ATF1	chr5:118371867-118372145	K562	blood:	n/a	n/a
17	ATF1	chr5:118410040-118410119	K562	blood:	n/a	n/a
18	ATF1	chr5:118364378-118364510	K562	blood:	n/a	n/a
19	ATF1	chr5:118405927-118406962	K562	blood:	n/a	n/a
20	ATF1	chr5:118399473-118399753	K562	blood:	n/a	n/a
21	ATF2	chr5:118409872-118410675	GM12878	blood:	n/a	n/a
22	ATF2	chr5:118406159-118407169	GM12878	blood:	n/a	n/a
23	ATF2	chr5:118366532-118368054	GM12878	blood:	n/a	n/a
24	ATF2	chr5:118323617-118324188	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF2	chr5:118409921-118410605	GM12878	blood:	n/a	n/a
26	ATF2	chr5:118366666-118368003	GM12878	blood:	n/a	n/a
27	ATF2	chr5:118324087-118324553	H1-hESC	embryonic stem cell:	n/a	n/a
28	ATF2	chr5:118323759-118324565	GM12878	blood:	n/a	n/a
29	ATF2	chr5:118323691-118324333	GM12878	blood:	n/a	n/a
30	ATF2	chr5:118406032-118406975	GM12878	blood:	n/a	n/a
31	ATF3	chr5:118367678-118367927	K562	blood:	n/a	n/a
32	ATF3	chr5:118323797-118324397	A549	lung:	n/a	chr5:118324280-118324289 chr5:118323965-118323974
33	ATF3	chr5:118367697-118367907	K562	blood:	n/a	n/a
34	ATF3	chr5:118371855-118372194	K562	blood:	n/a	n/a
35	ATF3	chr5:118323812-118324357	K562	blood:	n/a	chr5:118324280-118324289 chr5:118323965-118323974
36	ATF3	chr5:118405986-118406901	A549	lung:	n/a	n/a
37	BACH1	chr5:118385636-118385867	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr5:118406517-118406966	H1-hESC	embryonic stem cell:	n/a	n/a
39	BACH1	chr5:118407174-118407431	H1-hESC	embryonic stem cell:	n/a	n/a
40	BACH1	chr5:118323882-118324517	H1-hESC	embryonic stem cell:	n/a	n/a
41	BATF	chr5:118409998-118410330	GM12878	blood:	n/a	n/a
42	BATF	chr5:118367591-118367989	GM12878	blood:	n/a	n/a
43	BATF	chr5:118399470-118399698	GM12878	blood:	n/a	n/a
44	BATF	chr5:118366619-118367331	GM12878	blood:	n/a	chr5:118367009-118367020
45	BATF	chr5:118410023-118410530	GM12878	blood:	n/a	n/a
46	BATF	chr5:118309656-118309802	GM12878	blood:	n/a	n/a
47	BCL11A	chr5:118367023-118367364	GM12878	blood:	n/a	n/a
48	BCL11A	chr5:118410073-118410262	GM12878	blood:	n/a	chr5:118410231-118410240
49	BCL11A	chr5:118309262-118309620	GM12878	blood:	n/a	n/a
50	BCL11A	chr5:118367108-118367373	GM12878	blood:	n/a	n/a

(count:1830 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:118407235-118407285	AG09309	skin:	n/a
2	chr5:118312966-118313016	K562	blood:	n/a
3	chr5:118324104-118324154	LNCaP	prostate:	n/a
4	chr5:118324324-118324374	AG04450	lung:	fetal
5	chr5:118324374-118324424	GM06990	blood:	n/a
6	chr5:118324619-118324669	BE2_C	brain:	n/a
7	chr5:118312966-118313016	H1-hESC	embryonic stem cell:	embryo
8	chr5:118406938-118406988	HNPCEpiC	eye:	n/a
9	chr5:118309460-118309510	IMR90	lung:	fetal
10	chr5:118406938-118406988	HL-60	blood:	n/a
11	chr5:118309939-118309989	RPTEC	kidney:	n/a
12	chr5:118306150-118306200	A549	lung:	n/a
13	chr5:118324332-118324382	AG04450	lung:	fetal
14	chr5:118407258-118407308	GM12878	blood:	n/a
15	chr5:118407039-118407089	PFSK-1	brain:	n/a
16	chr5:118309939-118309989	ECC-1	luminal epithelium:	n/a
17	chr5:118309460-118309510	GM12891	blood:	n/a
18	chr5:118306150-118306200	GM06990	blood:	n/a
19	chr5:118406749-118406799	H1-hESC	embryonic stem cell:	embryo
20	chr5:118321556-118321606	SAEC	small airway:	n/a
21	chr5:118407039-118407089	HNPCEpiC	eye:	n/a
22	chr5:118308850-118308900	IMR90	lung:	fetal
23	chr5:118324104-118324154	PANC-1	pancreas:	n/a
24	chr5:118407039-118407089	LNCaP	prostate:	n/a
25	chr5:118300663-118300713	PrEC	prostate:	n/a
26	chr5:118321556-118321606	Jurkat	blood:	n/a
27	chr5:118309939-118309989	PFSK-1	brain:	n/a
28	chr5:118407525-118407575	SK-N-SH	brain:	n/a
29	chr5:118407235-118407285	SK-N-SH	brain:	n/a
30	chr5:118407525-118407575	AG04450	lung:	fetal
31	chr5:118312966-118313016	AoSMC	blood vessel:	n/a
32	chr5:118407258-118407308	GM12891	blood:	n/a
33	chr5:118324104-118324154	PFSK-1	brain:	n/a
34	chr5:118406749-118406799	HRPEpiC	eye:	n/a
35	chr5:118407235-118407285	HEK293	kidney:	embryo
36	chr5:118406936-118406986	NHDF-neo	bronchial:	n/a
37	chr5:118406970-118407020	NHBE	bronchial:	n/a
38	chr5:118407235-118407285	GM12892	blood:	n/a
39	chr5:118407037-118407087	Caco-2	colon:	n/a
40	chr5:118406970-118407020	IMR90	lung:	fetal
41	chr5:118406970-118407020	SK-N-SH	brain:	n/a
42	chr5:118407037-118407087	SK-N-MC	brain:	n/a
43	chr5:118407258-118407308	GM12892	blood:	n/a
44	chr5:118406936-118406986	PANC-1	pancreas:	n/a
45	chr5:118406970-118407020	ECC-1	luminal epithelium:	n/a
46	chr5:118306150-118306200	NT2-D1	testis:	n/a
47	chr5:118306150-118306200	AoSMC	blood vessel:	n/a
48	chr5:118406365-118406415	HIPEpiC	eye:	n/a
49	chr5:118312966-118313016	HIPEpiC	eye:	n/a
50	chr5:118306150-118306200	ECC-1	luminal epithelium:	n/a

(count:80 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:118323401..118324963-chr5:118329000..118330937,2	MCF-7	breast:
2	chr5:118381033..118383489-chr5:118406092..118407964,2	MCF-7	breast:
3	chr1:6484602..6485206-chr5:118323676..118324379,2	HCT-116	colon:
4	chr5:118357331..118357914-chr5:118771263..118771765,2	K562	blood:
5	chr5:118034213..118035082-chr5:118292213..118292973,2	MCF-7	breast:
6	chr5:118302138..118305564-chr5:118322264..118325147,4	K562	blood:
7	chr5:118369704..118371525-chr5:118389803..118392362,2	MCF-7	breast:
8	chr14:39581660..39583614-chr5:118323067..118325473,2	MCF-7	breast:
9	chr5:118320682..118322479-chr5:118322824..118324515,2	MCF-7	breast:
10	chr5:118356332..118359280-chr5:118404469..118406379,2	K562	blood:
11	chr5:118397443..118401188-chr5:118403593..118406456,7	K562	blood:
12	chr5:118369704..118371525-chr5:118389803..118392362,2	MCF-7	breast:
13	chr12:120729443..120729969-chr5:118406270..118407210,2	Hela-S3	cervix:
14	chr5:118311467..118314093-chr5:118314485..118317147,2	K562	blood:
15	chr5:118359425..118361403-chr5:118368214..118369778,2	K562	blood:
16	chr5:118407762..118409623-chr5:118414700..118416296,2	K562	blood:
17	chr5:118371638..118373297-chr5:118603992..118605933,2	MCF-7	breast:
18	chr5:118348689..118350989-chr5:118368039..118370331,2	MCF-7	breast:
19	chr5:118322908..118325429-chr5:118357118..118359882,3	MCF-7	breast:
20	chr5:118408484..118411107-chr5:118751959..118754643,2	K562	blood:
21	chr5:118332899..118334561-chr5:118335730..118338055,2	K562	blood:
22	chr5:118406323..118408758-chr5:118602921..118606339,4	MCF-7	breast:
23	chr5:118393227..118394919-chr5:118405422..118407131,2	MCF-7	breast:
24	chr5:118324139..118325700-chr5:118329954..118332656,2	K562	blood:
25	chr12:56435851..56438826-chr5:118405352..118408278,2	MCF-7	breast:
26	chr5:118359425..118361403-chr5:118368214..118369778,2	K562	blood:
27	chr5:118348689..118350989-chr5:118368039..118370331,2	MCF-7	breast:
28	chr5:118322493..118325395-chr5:118402550..118406560,4	K562	blood:
29	chr5:118126334..118128715-chr5:118291929..118293772,2	MCF-7	breast:
30	chr5:118394607..118397338-chr5:118401686..118403796,2	K562	blood:
31	chr5:118375214..118377898-chr5:118378275..118380615,2	MCF-7	breast:
32	chr5:118159743..118162265-chr5:118287763..118289308,2	K562	blood:
33	chr5:118323806..118324367-chr5:118405985..118406648,2	Hela-S3	cervix:
34	chr5:118402207..118403779-chr5:118404633..118406380,2	K562	blood:
35	chr5:118372007..118374418-chr5:118375621..118377132,2	K562	blood:
36	chr5:118398187..118399775-chr5:118406820..118408507,2	MCF-7	breast:
37	chr5:118347998..118350163-chr5:118539971..118542368,2	MCF-7	breast:
38	chr5:118405258..118407472-chr5:118664950..118669105,3	K562	blood:
39	chr5:118402216..118405010-chr5:118406769..118409405,2	K562	blood:
40	chr5:118368716..118371473-chr5:118745001..118746920,2	K562	blood:
41	chr5:118315876..118318901-chr5:118321943..118324259,3	MCF-7	breast:
42	chr5:118405552..118407163-chr5:118413181..118416258,3	K562	blood:
43	chr5:118323806..118324367-chr5:118405985..118406648,2	Hela-S3	cervix:
44	chr5:118323277..118326022-chr5:118603985..118605806,3	MCF-7	breast:
45	chr5:118346442..118349626-chr5:118352626..118357171,4	K562	blood:
46	chr5:118407762..118409623-chr5:118414700..118416296,2	K562	blood:
47	chr5:118332899..118334561-chr5:118335730..118338055,2	K562	blood:
48	chr5:118322938..118326606-chr5:118602920..118605792,4	MCF-7	breast:
49	chr3:13461141..13461830-chr5:118406143..118406866,2	Hela-S3	cervix:
50	chr5:118323796..118326237-chr5:118405565..118407849,3	MCF-7	breast:

(count:33 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-1	chr5:118383671-118383834	ucscGeneNc_uc003ksb_2
2	lnc-DMXL1-5	chr5:118380565-118380673	NONHSAT103415
3	lnc-DTWD2-1	chr5:118359906-118359967	ucscGeneNc_uc003ksb_2
4	lnc-DTWD2-1	chr5:118368885-118370224	ucscGeneNc_uc003ksb_2
5	lnc-DTWD2-1	chr5:118370352-118370455	ucscGeneNc_uc003ksb_2
6	lnc-DTWD2-1	chr5:118332007-118332068	NONHSAT103410
7	lnc-DTWD2-1	chr5:118369965-118370041	ENSG00000249494.1
8	lnc-DTWD2-1	chr5:118370668-118370799	ucscGeneNc_uc003ksb_2
9	lnc-DTWD2-1	chr5:118337158-118337293	NONHSAT103410
10	lnc-DTWD2-1	chr5:118406501-118406556	ENSG00000249494.1
11	lnc-DTWD2-1	chr5:118405183-118406899	NONHSAT103417
12	lnc-DTWD2-1	chr5:118340335-118340543	NONHSAT103410
13	lnc-DMXL1-6	chr5:118347166-118347751	NONHSAT103412
14	lnc-DMXL1-5	chr5:118373467-118373583	NONHSAT103415
15	lnc-DTWD2-1	chr5:118368234-118368442	ucscGeneNc_uc003ksb_2
16	lnc-DTWD2-1	chr5:118355772-118355935	NONHSAT103410
17	lnc-DTWD2-1	chr5:118373313-118373361	NONHSAT103410
18	lnc-DTWD2-1	chr5:118355772-118355935	ENSG00000249494.1
19	lnc-DTWD2-1	chr5:118397864-118397940	ucscGeneNc_uc003ksb_2
20	lnc-DTWD2-1	chr5:118340986-118342325	NONHSAT103410
21	lnc-DTWD2-1	chr5:118342042-118342325	ENSG00000249494.1
22	lnc-DTWD2-1	chr5:118373313-118373363	ENSG00000249494.1
23	lnc-DTWD2-1	chr5:118406501-118406585	ENSG00000249494.1
24	lnc-DTWD2-1	chr5:118369965-118370041	NONHSAT103410
25	lnc-DTWD2-1	chr5:118401212-118401260	ucscGeneNc_uc003ksb_2
26	lnc-DTWD2-1	chr5:118342769-118342900	ENSG00000249494.1
27	lnc-DTWD2-1	chr5:118342769-118342900	NONHSAT103410
28	lnc-DTWD2-1	chr5:118342453-118342556	ENSG00000249494.1
29	lnc-DTWD2-1	chr5:118355772-118355935	ENSG00000249494.1
30	lnc-DTWD2-1	chr5:118347498-118347773	ENSG00000249494.1
31	lnc-DTWD2-1	chr5:118365057-118365192	ucscGeneNc_uc003ksb_2
32	lnc-DTWD2-1	chr5:118355610-118355935	ENSG00000249494.1
33	lnc-DTWD2-1	chr5:118342453-118342556	NONHSAT103410

No data

Variant related genes	Relation type
ENSG00000249494	TF binding region
DTWD2	TF binding region
ENSG00000239011	TF binding region
ENSG00000250928	TF binding region
PTMAP2	TF binding region
DMXL1	TF binding region
ENSG00000250678	TF binding region
RNU6-373P	TF binding region
ENSG00000249494	CpG island
DTWD2	CpG island
ENSG00000239011	CpG island
ENSG00000250928	CpG island
PTMAP2	CpG island
DMXL1	CpG island
ENSG00000250678	CpG island
RNU6-373P	CpG island
ENSG00000169570	chromatin interactions
ENSG00000130589	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000092208	chromatin interactions
ENSG00000249494	chromatin interactions
ENSG00000132182	chromatin interactions
ENSG00000239011	chromatin interactions
ENSG00000250928	chromatin interactions
ENSG00000145779	chromatin interactions
ENSG00000197728	chromatin interactions
ENSG00000069812	chromatin interactions
ENSG00000096746	chromatin interactions
ENSG00000133835	chromatin interactions
ENSG00000187017	chromatin interactions
ENSG00000172869	chromatin interactions

Extended variants
information (count: 5016 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:5016 , 50 per page) page: 1 2 3 4 5 6 7 ... 101

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572358408	chr5:118288948-118288949	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140521228	chr5:118288956-118288957	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117855426	chr5:118288958-118288959	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575412078	chr5:118288996-118288997	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575153908	chr5:118289005-118289006	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544114628	chr5:118289010-118289011	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563902929	chr5:118289019-118289020	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150349711	chr5:118289064-118289065	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138059435	chr5:118289137-118289138	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188748502	chr5:118289144-118289145	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115766822	chr5:118289151-118289152	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548133561	chr5:118289169-118289170	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567701113	chr5:118289195-118289196	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537109552	chr5:118289197-118289198	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530912155	chr5:118289215-118289216	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536976073	chr5:118289244-118289245	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550456488	chr5:118289275-118289276	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184726128	chr5:118289293-118289294	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147240027	chr5:118289299-118289300	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558786621	chr5:118289306-118289307	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190041800	chr5:118289318-118289319	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534725995	chr5:118289325-118289326	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146034580	chr5:118289360-118289361	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574865490	chr5:118289368-118289369	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138512789	chr5:118289370-118289371	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149245099	chr5:118289371-118289372	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs180786438	chr5:118289381-118289382	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373187994	chr5:118289427-118289428	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546348734	chr5:118289432-118289433	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376453873	chr5:118289470-118289471	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528223490	chr5:118289499-118289500	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541538160	chr5:118289510-118289511	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561392370	chr5:118289565-118289566	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530415876	chr5:118289584-118289585	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550471089	chr5:118289585-118289586	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369370353	chr5:118289636-118289637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375272784	chr5:118289660-118289661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564563751	chr5:118289662-118289663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557078963	chr5:118289690-118289691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570367407	chr5:118289730-118289731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186223761	chr5:118289761-118289762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528341950	chr5:118289763-118289764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372912558	chr5:118289764-118289765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28558824	chr5:118289773-118289774	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs3887648	chr5:118289789-118289790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535149365	chr5:118289792-118289793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11958756	chr5:118289828-118289829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568511279	chr5:118289883-118289884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537393607	chr5:118289987-118289988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189912830	chr5:118290019-118290020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1798 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118225400-118300400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:118233800-118289200	Weak transcription	Psoas Muscle	Psoas
3	chr5:118250400-118289400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr5:118259600-118305000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:118260600-118289400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr5:118263000-118306000	Weak transcription	Primary T cells from cord blood	blood
7	chr5:118263400-118304000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr5:118270400-118291800	Weak transcription	Fetal Intestine Large	intestine
9	chr5:118273600-118295400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:118282200-118304200	Weak transcription	Right Atrium	heart
11	chr5:118287400-118289400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:118288000-118289000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:118288200-118289000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:118288200-118289600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr5:118288200-118290200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:118288400-118289000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr5:118288400-118289600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr5:118288400-118290000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr5:118288400-118300000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:118288600-118289800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:118288800-118289200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr5:118288800-118289200	Enhancers	HSMMtube	muscle
23	chr5:118288800-118289400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr5:118288800-118289600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:118288800-118289800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:118288800-118289800	Enhancers	H9 Cell Line	embryonic stem cell
27	chr5:118289000-118289800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr5:118289200-118289800	Enhancers	Psoas Muscle	Psoas
29	chr5:118289400-118289800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:118289400-118289800	Enhancers	Primary B cells from peripheral blood	blood
31	chr5:118289400-118289800	Enhancers	Right Ventricle	heart
32	chr5:118289400-118289800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr5:118289400-118289800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr5:118289400-118290000	Enhancers	GM12878-XiMat	blood
35	chr5:118289600-118290200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr5:118289800-118291000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:118289800-118298600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr5:118289800-118299000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr5:118291000-118291200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:118294400-118304200	Weak transcription	Left Ventricle	heart
41	chr5:118295400-118296800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:118296800-118314400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:118298600-118299200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr5:118298800-118299200	Enhancers	Liver	Liver
45	chr5:118299000-118299400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr5:118299400-118304600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr5:118299800-118304200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:118300000-118300800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr5:118301000-118304200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr5:118301200-118304000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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