Variant report

Variant	nsv880373
Chromosome Location	chr5:16710572-16785604
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1049)
CpG islands
(count:1466)
Chromatin interactive
region (count:45)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1049 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:16735812-16736834	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:16776660-16777049	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:16721260-16722161	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:16744451-16745115	HepG2	liver:	n/a	n/a
5	ARID3A	chr5:16774966-16775398	HepG2	liver:	n/a	chr5:16774972-16774988
6	ARID3A	chr5:16720946-16721021	HepG2	liver:	n/a	n/a
7	ARID3A	chr5:16758093-16758785	HepG2	liver:	n/a	n/a
8	ATF1	chr5:16778299-16778593	K562	blood:	n/a	n/a
9	ATF1	chr5:16784686-16784711	K562	blood:	n/a	n/a
10	ATF1	chr5:16736365-16736678	K562	blood:	n/a	n/a
11	ATF1	chr5:16724177-16724408	K562	blood:	n/a	n/a
12	ATF2	chr5:16741571-16742550	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr5:16740175-16741547	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr5:16784902-16785760	GM12878	blood:	n/a	n/a
15	ATF2	chr5:16741921-16742549	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr5:16785107-16785716	GM12878	blood:	n/a	n/a
17	ATF3	chr5:16778268-16778494	K562	blood:	n/a	n/a
18	ATF3	chr5:16736376-16736655	HepG2	liver:	n/a	n/a
19	ATF3	chr5:16736361-16736650	K562	blood:	n/a	n/a
20	ATF3	chr5:16778373-16778520	K562	blood:	n/a	n/a
21	ATF3	chr5:16736340-16736720	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr5:16721328-16721329	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr5:16736158-16736481	H1-hESC	embryonic stem cell:	n/a	n/a
24	BATF	chr5:16784669-16785693	GM12878	blood:	n/a	chr5:16784922-16784932 chr5:16784998-16785007
25	BATF	chr5:16785215-16785610	GM12878	blood:	n/a	n/a
26	BCL11A	chr5:16741039-16741292	H1-hESC	embryonic stem cell:	n/a	n/a
27	BCL11A	chr5:16785257-16785664	GM12878	blood:	n/a	chr5:16785445-16785454 chr5:16785326-16785335
28	BCL3	chr5:16785218-16785578	GM12878	blood:	n/a	chr5:16785445-16785454 chr5:16785235-16785244 chr5:16785326-16785335 chr5:16785228-16785241
29	BCLAF1	chr5:16785168-16785529	GM12878	blood:	n/a	chr5:16785445-16785454 chr5:16785235-16785244 chr5:16785326-16785335 chr5:16785228-16785241
30	BCLAF1	chr5:16785109-16785690	GM12878	blood:	n/a	chr5:16785445-16785454 chr5:16785235-16785244 chr5:16785326-16785335 chr5:16785228-16785241
31	BHLHE40	chr5:16721328-16721574	HepG2	liver:	n/a	n/a
32	BHLHE40	chr5:16731841-16732008	K562	blood:	n/a	chr5:16731943-16731952 chr5:16731937-16731958 chr5:16731943-16731952 chr5:16731942-16731951
33	BHLHE40	chr5:16749049-16749307	K562	blood:	n/a	chr5:16749138-16749151 chr5:16749134-16749155 chr5:16749140-16749149 chr5:16749141-16749150 chr5:16749139-16749148 chr5:16749140-16749149
34	BHLHE40	chr5:16783970-16784312	HepG2	liver:	n/a	n/a
35	BHLHE40	chr5:16778290-16778596	K562	blood:	n/a	n/a
36	BHLHE40	chr5:16736190-16736855	HepG2	liver:	n/a	n/a
37	BHLHE40	chr5:16736477-16736545	K562	blood:	n/a	n/a
38	BHLHE40	chr5:16785267-16785614	GM12878	blood:	n/a	n/a
39	BRCA1	chr5:16776898-16777003	HepG2	liver:	n/a	n/a
40	BRCA1	chr5:16740663-16741478	H1-hESC	embryonic stem cell:	n/a	chr5:16741308-16741315
41	BRCA1	chr5:16776734-16777083	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr5:16784269-16784489	IMR90	lung:	n/a	n/a
43	CEBPB	chr5:16736376-16736652	K562	blood:	n/a	n/a
44	CEBPB	chr5:16736198-16736903	HCT-116	colon:	n/a	n/a
45	CEBPB	chr5:16744812-16744997	HepG2	liver:	n/a	chr5:16744936-16744949 chr5:16744938-16744949 chr5:16744936-16744947
46	CEBPB	chr5:16736308-16736693	ECC-1	luminal epithelium:	n/a	n/a
47	CEBPB	chr5:16778282-16778453	K562	blood:	n/a	n/a
48	CEBPB	chr5:16736361-16736634	HepG2	liver:	n/a	n/a
49	CEBPB	chr5:16741234-16741430	HepG2	liver:	n/a	chr5:16741343-16741354 chr5:16741343-16741354 chr5:16741341-16741354 chr5:16741338-16741355 chr5:16741341-16741352
50	CEBPB	chr5:16778293-16778342	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1466 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:16736823-16736873	SK-N-SH_RA	brain:	n/a
2	chr5:16754384-16754434	PFSK-1	brain:	n/a
3	chr5:16736823-16736873	SK-N-SH_RA	brain:	n/a
4	chr5:16754384-16754434	PFSK-1	brain:	n/a
5	chr5:16728219-16728269	GM06990	blood:	n/a
6	chr5:16785135-16785185	HMEC	breast:	n/a
7	chr5:16784821-16784871	AG04449	skin:	fetal
8	chr5:16785051-16785101	SK-N-SH_RA	brain:	n/a
9	chr5:16738047-16738097	AoSMC	blood vessel:	n/a
10	chr5:16737972-16738022	HEK293	kidney:	embryo
11	chr5:16711165-16711215	AG04450	lung:	fetal
12	chr5:16735498-16735548	HUVEC	blood vessel:	n/a
13	chr5:16742020-16742070	Hepatocyte	liver:	n/a
14	chr5:16784775-16784825	HAEpiC	amniotic membrane:	n/a
15	chr5:16743265-16743315	HRCEpiC	kidney:	n/a
16	chr5:16728219-16728269	SK-N-SH	brain:	n/a
17	chr5:16728219-16728269	PFSK-1	brain:	n/a
18	chr5:16777377-16777427	U87	brain:	n/a
19	chr5:16742054-16742104	SK-N-SH_RA	brain:	n/a
20	chr5:16738047-16738097	HAEpiC	amniotic membrane:	n/a
21	chr5:16785051-16785101	MCF-7	breast:	n/a
22	chr5:16785051-16785101	AG04450	lung:	fetal
23	chr5:16784775-16784825	BJ	skin:	n/a
24	chr5:16721797-16721847	K562	blood:	n/a
25	chr5:16738047-16738097	Hepatocyte	liver:	n/a
26	chr5:16736823-16736873	HUVEC	blood vessel:	n/a
27	chr5:16783782-16783832	AG10803	skin:	n/a
28	chr5:16711165-16711215	AG10803	skin:	n/a
29	chr5:16783782-16783832	HUVEC	blood vessel:	n/a
30	chr5:16735498-16735548	ECC-1	luminal epithelium:	n/a
31	chr5:16738125-16738175	BE2_C	brain:	n/a
32	chr5:16736823-16736873	NHDF-neo	bronchial:	n/a
33	chr5:16713588-16713638	HepG2	liver:	n/a
34	chr5:16711165-16711215	Caco-2	colon:	n/a
35	chr5:16777377-16777427	HRPEpiC	eye:	n/a
36	chr5:16742054-16742104	NT2-D1	testis:	n/a
37	chr5:16738047-16738097	BJ	skin:	n/a
38	chr5:16736823-16736873	HPAEpiC	pulmonary alveolar:	n/a
39	chr5:16785399-16785449	K562	blood:	n/a
40	chr5:16728219-16728269	RPTEC	kidney:	n/a
41	chr5:16742179-16742229	SKMC	muscle:	n/a
42	chr5:16784775-16784825	PFSK-1	brain:	n/a
43	chr5:16738318-16738368	HNPCEpiC	eye:	n/a
44	chr5:16735498-16735548	Jurkat	blood:	n/a
45	chr5:16784821-16784871	CMK	blood:	n/a
46	chr5:16713588-16713638	H1-hESC	embryonic stem cell:	embryo
47	chr5:16784821-16784871	AG04450	lung:	fetal
48	chr5:16777377-16777427	HRE	kidney:	n/a
49	chr5:16711165-16711215	HL-60	blood:	n/a
50	chr5:16785399-16785449	HCT-116	colon:	n/a

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:16740410..16741382-chr5:17189423..17190130,2	MCF-7	breast:
2	chr5:16744561..16747041-chr5:16752220..16754067,2	K562	blood:
3	chr5:16744561..16747041-chr5:16752220..16754067,2	K562	blood:
4	chr5:16729939..16731528-chr5:16732175..16733967,2	MCF-7	breast:
5	chr5:16713673..16715499-chr5:16715772..16717770,2	K562	blood:
6	chr5:16710425..16712025-chr5:16715112..16717325,2	MCF-7	breast:
7	chr5:16626745..16627365-chr5:16744294..16745128,4	MCF-7	breast:
8	chr5:16735245..16737580-chr5:16952824..16955569,2	MCF-7	breast:
9	chr5:16782557..16785455-chr5:16934978..16937136,2	MCF-7	breast:
10	chr5:16723548..16725058-chr5:16725138..16727326,2	MCF-7	breast:
11	chr5:16755698..16757914-chr5:16758112..16760013,3	MCF-7	breast:
12	chr5:16728548..16730757-chr5:16733455..16736411,2	MCF-7	breast:
13	chr5:16734341..16736922-chr5:16738909..16741583,2	MCF-7	breast:
14	chr5:16679668..16680619-chr5:16776494..16777357,4	MCF-7	breast:
15	chr5:16740780..16741704-chr5:16776541..16777578,3	MCF-7	breast:
16	chr5:16588242..16589198-chr5:16744257..16744813,2	MCF-7	breast:
17	chr5:16723548..16725058-chr5:16725138..16727326,2	MCF-7	breast:
18	chr5:16769084..16770925-chr5:16772058..16775027,2	K562	blood:
19	chr5:16727860..16733317-chr5:16734761..16739949,6	MCF-7	breast:
20	chr5:16743803..16745620-chr5:16745640..16748516,2	K562	blood:
21	chr5:16763622..16766188-chr5:16934397..16936475,2	MCF-7	breast:
22	chr5:16743803..16745620-chr5:16745640..16748516,2	K562	blood:
23	chr5:16690107..16691016-chr5:16776506..16777632,8	MCF-7	breast:
24	chr5:16710511..16712178-chr5:16712556..16714357,2	MCF-7	breast:
25	chr5:16740840..16741721-chr5:16776516..16777353,6	MCF-7	breast:
26	chr5:16713673..16715499-chr5:16715772..16717770,2	K562	blood:
27	chr5:16740780..16741704-chr5:16776541..16777578,3	MCF-7	breast:
28	chr5:16744168..16745132-chr5:16787048..16788082,8	MCF-7	breast:
29	chr2:9954081..9954722-chr5:16726991..16727551,2	MCF-7	breast:
30	chr5:16690101..16691036-chr5:16776467..16777868,10	MCF-7	breast:
31	chr5:16588242..16589515-chr5:16744207..16745107,7	MCF-7	breast:
32	chr5:16723686..16725760-chr5:16727885..16730861,2	MCF-7	breast:
33	chr5:16744168..16745132-chr5:16787048..16788082,5	MCF-7	breast:
34	chr5:16740840..16741721-chr5:16776516..16777353,6	MCF-7	breast:
35	chr5:16710355..16712259-chr5:16729265..16730891,2	MCF-7	breast:
36	chr5:16710355..16712259-chr5:16729265..16730891,2	MCF-7	breast:
37	chr5:16729939..16731528-chr5:16732175..16733967,2	MCF-7	breast:
38	chr5:16769084..16770925-chr5:16772058..16775027,2	K562	blood:
39	chr5:16784701..16787932-chr5:16789785..16793090,3	MCF-7	breast:
40	chr5:16710425..16712025-chr5:16715112..16717325,2	MCF-7	breast:
41	chr5:16728548..16730757-chr5:16733455..16736411,2	MCF-7	breast:
42	chr5:16723686..16725760-chr5:16727885..16730861,2	MCF-7	breast:
43	chr5:16756542..16758777-chr5:16782954..16785752,2	K562	blood:
44	chr5:16734341..16736922-chr5:16738909..16741583,2	MCF-7	breast:
45	chr5:16626745..16627365-chr5:16744383..16745128,3	MCF-7	breast:

No data

Variant related genes	Relation type
MYO10	TF binding region
MYO10	CpG island
ENSG00000145555	chromatin interactions

Extended variants
information (count: 3194 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:3194 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2288440	chr5:16710572-16710573	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547553129	chr5:16710588-16710589	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565784236	chr5:16710600-16710601	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182665474	chr5:16710601-16710602	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs539036860	chr5:16710609-16710610	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs557739535	chr5:16710618-16710619	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs3849109	chr5:16710649-16710650	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs2288441	chr5:16710681-16710682	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs187005822	chr5:16710682-16710683	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs574362634	chr5:16710725-16710726	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2288442	chr5:16710763-16710764	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574725403	chr5:16710827-16710828	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs542030992	chr5:16710837-16710838	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560182783	chr5:16710850-16710851	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs572503798	chr5:16710920-16710921	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs545837163	chr5:16710924-16710925	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374021767	chr5:16710960-16710961	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs139695315	chr5:16710968-16710969	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs531507171	chr5:16710969-16710970	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs550130303	chr5:16710972-16710973	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376155019	chr5:16710974-16710975	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs369461640	chr5:16710986-16710987	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs374211919	chr5:16710994-16710995	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561852934	chr5:16711008-16711009	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs529064478	chr5:16711020-16711021	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs80049791	chr5:16711025-16711026	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs377711573	chr5:16711084-16711085	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs26740	chr5:16711087-16711088	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs567632918	chr5:16711091-16711092	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs373208938	chr5:16711101-16711102	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs376331087	chr5:16711116-16711117	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs368521997	chr5:16711137-16711138	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs370411932	chr5:16711138-16711139	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs551085821	chr5:16711139-16711140	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs569659913	chr5:16711140-16711141	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373861542	chr5:16711150-16711151	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs377209514	chr5:16711165-16711166	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs370679453	chr5:16711166-16711167	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs374380885	chr5:16711170-16711171	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs556406182	chr5:16711171-16711172	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs149947302	chr5:16711219-16711220	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs1136661	chr5:16711236-16711237	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs200819752	chr5:16711258-16711259	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs368605358	chr5:16711262-16711263	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs372360799	chr5:16711278-16711279	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs535603639	chr5:16711300-16711301	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs375527129	chr5:16711311-16711312	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs367565824	chr5:16711312-16711313	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs79930576	chr5:16711329-16711330	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs371838578	chr5:16711330-16711331	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2676 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16663000-16712400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:16663800-16713400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:16673800-16713400	Weak transcription	Psoas Muscle	Psoas
4	chr5:16675800-16713600	Weak transcription	Left Ventricle	heart
5	chr5:16681600-16713200	Weak transcription	Small Intestine	intestine
6	chr5:16682400-16736000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:16688000-16711600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:16688400-16711400	Strong transcription	Fetal Lung	lung
9	chr5:16690200-16713200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:16695000-16710600	Weak transcription	Stomach Mucosa	stomach
11	chr5:16697200-16711600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:16697400-16711200	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr5:16697400-16711400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:16697800-16711400	Strong transcription	HMEC	breast
15	chr5:16698000-16711400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:16698000-16711400	Strong transcription	Osteobl	bone
17	chr5:16698200-16711400	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr5:16699000-16711400	Strong transcription	Ovary	ovary
19	chr5:16699000-16711400	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:16699200-16711400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:16701400-16711200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:16701800-16711000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr5:16701800-16711600	Strong transcription	Fetal Intestine Large	intestine
24	chr5:16701800-16713400	Weak transcription	Right Ventricle	heart
25	chr5:16702000-16711400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:16702400-16710800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr5:16702600-16711400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr5:16702600-16711600	Strong transcription	HSMM	muscle
29	chr5:16703600-16711200	Strong transcription	Fetal Brain Female	brain
30	chr5:16703800-16710600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:16703800-16710800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:16703800-16711600	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr5:16704200-16711600	Strong transcription	NHLF	lung
34	chr5:16704400-16711600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr5:16704600-16711600	Strong transcription	NH-A	brain
36	chr5:16704800-16711200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:16704800-16711400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
38	chr5:16705000-16711800	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr5:16705000-16712400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:16705200-16713400	Weak transcription	Colon Smooth Muscle	Colon
41	chr5:16705400-16711400	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr5:16705400-16711600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr5:16705600-16711600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr5:16705600-16712200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr5:16705800-16711400	Strong transcription	Fetal Muscle Trunk	muscle
46	chr5:16705800-16711400	Strong transcription	Fetal Stomach	stomach
47	chr5:16705800-16711800	Strong transcription	Fetal Intestine Small	intestine
48	chr5:16706600-16711000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:16706600-16711000	Strong transcription	NHDF-Ad	bronchial
50	chr5:16706600-16711400	Strong transcription	HSMMtube	muscle

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