Variant report

Variant	nsv542918
Chromosome Location	chr16:48417388-48482594
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1404)
CpG islands
(count:671)
Chromatin interactive
region (count:53)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1404 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:48427660-48428017	K562	blood:	n/a	n/a
2	ARID3A	chr16:48475749-48476306	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:48417781-48418469	HepG2	liver:	n/a	n/a
4	ARID3A	chr16:48416816-48417494	HepG2	liver:	n/a	n/a
5	ARID3A	chr16:48419367-48419551	K562	blood:	n/a	n/a
6	ARID3A	chr16:48439809-48440156	HepG2	liver:	n/a	n/a
7	ARID3A	chr16:48419130-48419530	HepG2	liver:	n/a	n/a
8	ARID3A	chr16:48444024-48444243	K562	blood:	n/a	n/a
9	ARID3A	chr16:48443854-48444494	HepG2	liver:	n/a	n/a
10	ARID3A	chr16:48427806-48428107	HepG2	liver:	n/a	n/a
11	ARID3A	chr16:48419894-48420137	HepG2	liver:	n/a	n/a
12	ARID3A	chr16:48417831-48418153	K562	blood:	n/a	n/a
13	ATF1	chr16:48427781-48428612	K562	blood:	n/a	n/a
14	ATF1	chr16:48478636-48478798	K562	blood:	n/a	n/a
15	ATF1	chr16:48443869-48444193	K562	blood:	n/a	n/a
16	ATF2	chr16:48417986-48418364	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF3	chr16:48475694-48476193	A549	lung:	n/a	n/a
18	ATF3	chr16:48419311-48419585	HepG2	liver:	n/a	chr16:48419332-48419341 chr16:48419408-48419417
19	ATF3	chr16:48475700-48476271	A549	lung:	n/a	n/a
20	ATF3	chr16:48443830-48444209	K562	blood:	n/a	chr16:48443948-48443961
21	BATF	chr16:48464903-48465153	GM12878	blood:	n/a	n/a
22	BCL3	chr16:48475697-48476191	A549	lung:	n/a	chr16:48475948-48475957
23	BCL3	chr16:48475642-48476236	A549	lung:	n/a	chr16:48475948-48475957
24	BCL3	chr16:48419341-48419762	A549	lung:	n/a	chr16:48419710-48419723 chr16:48419361-48419370 chr16:48419359-48419372 chr16:48419712-48419725 chr16:48419715-48419724 chr16:48419712-48419721 chr16:48419623-48419636
25	BCL3	chr16:48419028-48419378	GM12878	blood:	n/a	chr16:48419327-48419340 chr16:48419361-48419370 chr16:48419359-48419372
26	BCL3	chr16:48468762-48469269	A549	lung:	n/a	n/a
27	BCLAF1	chr16:48419242-48419765	GM12878	blood:	n/a	chr16:48419710-48419723 chr16:48419327-48419340 chr16:48419361-48419370 chr16:48419359-48419372 chr16:48419712-48419725 chr16:48419715-48419724 chr16:48419712-48419721 chr16:48419623-48419636
28	BHLHE40	chr16:48475724-48476094	HepG2	liver:	n/a	n/a
29	BHLHE40	chr16:48466218-48466316	K562	blood:	n/a	n/a
30	BHLHE40	chr16:48443853-48444352	HepG2	liver:	n/a	n/a
31	BHLHE40	chr16:48434089-48434124	GM12878	blood:	n/a	n/a
32	BHLHE40	chr16:48443909-48444296	K562	blood:	n/a	n/a
33	BHLHE40	chr16:48481532-48481564	HepG2	liver:	n/a	n/a
34	BHLHE40	chr16:48427782-48428060	K562	blood:	n/a	n/a
35	BHLHE40	chr16:48464878-48465116	GM12878	blood:	n/a	n/a
36	BHLHE40	chr16:48417882-48419832	HepG2	liver:	n/a	chr16:48419664-48419680 chr16:48419620-48419636 chr16:48418657-48418673
37	BHLHE40	chr16:48425313-48425429	HepG2	liver:	n/a	n/a
38	BHLHE40	chr16:48428305-48428325	K562	blood:	n/a	n/a
39	BHLHE40	chr16:48417811-48420020	K562	blood:	n/a	chr16:48419664-48419680 chr16:48419620-48419636 chr16:48418657-48418673
40	BHLHE40	chr16:48469333-48469341	K562	blood:	n/a	n/a
41	BHLHE40	chr16:48480444-48480631	K562	blood:	n/a	n/a
42	BHLHE40	chr16:48418641-48418772	A549	lung:	n/a	chr16:48418657-48418673
43	BHLHE40	chr16:48418075-48419797	GM12878	blood:	n/a	chr16:48419664-48419680 chr16:48419620-48419636 chr16:48418657-48418673
44	BHLHE40	chr16:48468849-48469077	GM12878	blood:	n/a	n/a
45	BRCA1	chr16:48420000-48420095	H1-hESC	embryonic stem cell:	n/a	n/a
46	BRCA1	chr16:48419498-48419895	Hela-S3	cervix:	n/a	n/a
47	BRCA1	chr16:48444152-48444299	HepG2	liver:	n/a	n/a
48	BRCA1	chr16:48478545-48478980	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr16:48419858-48419902	HepG2	liver:	n/a	n/a
50	BRCA1	chr16:48419426-48419579	H1-hESC	embryonic stem cell:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:48419522-48419572	Hela-S3	cervix:	n/a
2	chr16:48422428-48422478	HRPEpiC	eye:	n/a
3	chr16:48428016-48428066	HL-60	blood:	n/a
4	chr16:48419522-48419572	K562	blood:	n/a
5	chr16:48422428-48422478	HCPEpiC	choroid plexus:	n/a
6	chr16:48418433-48418483	HRE	kidney:	n/a
7	chr16:48468609-48468659	SK-N-SH_RA	brain:	n/a
8	chr16:48419522-48419572	RPTEC	kidney:	n/a
9	chr16:48479333-48479383	NHDF-neo	bronchial:	n/a
10	chr16:48479333-48479383	AoSMC	blood vessel:	n/a
11	chr16:48419812-48419862	PFSK-1	brain:	n/a
12	chr16:48422428-48422478	HEK293	kidney:	embryo
13	chr16:48421602-48421652	NHBE	bronchial:	n/a
14	chr16:48468609-48468659	AG09319	gingival:	n/a
15	chr16:48419537-48419587	GM12892	blood:	n/a
16	chr16:48419541-48419591	HUVEC	blood vessel:	n/a
17	chr16:48468609-48468659	HIPEpiC	eye:	n/a
18	chr16:48451279-48451329	U87	brain:	n/a
19	chr16:48419537-48419587	Hepatocyte	liver:	n/a
20	chr16:48479333-48479383	HNPCEpiC	eye:	n/a
21	chr16:48418433-48418483	NT2-D1	testis:	n/a
22	chr16:48479333-48479383	AG10803	skin:	n/a
23	chr16:48428016-48428066	PrEC	prostate:	n/a
24	chr16:48421602-48421652	AG04449	skin:	fetal
25	chr16:48418433-48418483	HNPCEpiC	eye:	n/a
26	chr16:48428016-48428066	SKMC	muscle:	n/a
27	chr16:48421602-48421652	LNCaP	prostate:	n/a
28	chr16:48422428-48422478	BE2_C	brain:	n/a
29	chr16:48418433-48418483	HAEpiC	amniotic membrane:	n/a
30	chr16:48419537-48419587	IMR90	lung:	fetal
31	chr16:48428016-48428066	MCF10A-Er-Src	breast:	n/a
32	chr16:48451279-48451329	HAEpiC	amniotic membrane:	n/a
33	chr16:48419812-48419862	AG09319	gingival:	n/a
34	chr16:48421602-48421652	HCT-116	colon:	n/a
35	chr16:48418433-48418483	U87	brain:	n/a
36	chr16:48422428-48422478	HMEC	breast:	n/a
37	chr16:48479333-48479383	AG04449	skin:	fetal
38	chr16:48418433-48418483	HUVEC	blood vessel:	n/a
39	chr16:48428016-48428066	HCM	heart:	n/a
40	chr16:48479333-48479383	SKMC	muscle:	n/a
41	chr16:48419537-48419587	NH-A	brain:	n/a
42	chr16:48422428-48422478	AG04450	lung:	fetal
43	chr16:48419537-48419587	HCT-116	colon:	n/a
44	chr16:48479333-48479383	HUVEC	blood vessel:	n/a
45	chr16:48428016-48428066	GM19239	blood:	n/a
46	chr16:48418433-48418483	LNCaP	prostate:	n/a
47	chr16:48421602-48421652	HPAEpiC	pulmonary alveolar:	n/a
48	chr16:48419812-48419862	MCF10A-Er-Src	breast:	n/a
49	chr16:48428016-48428066	BE2_C	brain:	n/a
50	chr16:48419537-48419587	SAEC	small airway:	n/a

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:48422934..48425997-chr16:48426022..48428467,3	K562	blood:
2	chr1:212208566..212209259-chr16:48419035..48419960,2	Hela-S3	cervix:
3	chr16:48417956..48420702-chr16:48642244..48644303,3	K562	blood:
4	chr16:48417371..48420713-chr16:48642499..48645364,3	K562	blood:
5	chr16:48418015..48420544-chr16:48643775..48645908,3	MCF-7	breast:
6	chr16:48398863..48400764-chr16:48467707..48470149,2	K562	blood:
7	chr12:7261155..7261904-chr16:48418914..48419874,2	Hela-S3	cervix:
8	chr16:48277094..48279506-chr16:48417848..48419466,2	K562	blood:
9	chr16:48417748..48421014-chr16:48469068..48471646,3	K562	blood:
10	chr16:48367808..48369426-chr16:48417936..48419640,2	MCF-7	breast:
11	chr16:48478297..48479194-chr17:26988911..26989673,2	Hela-S3	cervix:
12	chr16:48417608..48421302-chr16:48425063..48429266,6	K562	blood:
13	chr16:48476815..48479207-chr16:48481453..48484323,3	K562	blood:
14	chr16:48419220..48421334-chr16:48432742..48435695,2	K562	blood:
15	chr12:57039442..57040047-chr16:48419364..48420064,2	Hela-S3	cervix:
16	chr16:48416397..48419006-chr16:48635531..48637181,2	K562	blood:
17	chr16:48418761..48419469-chr22:42228810..42229760,2	Hela-S3	cervix:
18	chr16:48477173..48479098-chr16:48481860..48483849,2	K562	blood:
19	chr16:48418738..48419529-chr16:89626613..89627546,2	Hela-S3	cervix:
20	chr16:48419190..48419723-chr20:30194517..30195068,2	HCT-116	colon:
21	chr16:48419382..48420884-chr16:48422551..48425300,2	MCF-7	breast:
22	chr16:48417608..48421302-chr16:48425063..48429266,6	K562	blood:
23	chr16:48419370..48419971-chr19:17515260..17516132,2	Hela-S3	cervix:
24	chr11:6502371..6503037-chr16:48419377..48420020,2	NB4	blood:
25	chr16:48396253..48404408-chr16:48411826..48421166,27	K562	blood:
26	chr16:48429591..48432273-chr16:48438354..48440498,2	K562	blood:
27	chr16:48417972..48420072-chr16:48465753..48468284,3	MCF-7	breast:
28	chr16:2013351..2015357-chr16:48417776..48419360,2	MCF-7	breast:
29	chr16:48478868..48479549-chr21:44816264..44817248,2	Hela-S3	cervix:
30	chr16:48397931..48401931-chr16:48416758..48423536,12	MCF-7	breast:
31	chr16:48399845..48400801-chr16:48418367..48419048,2	Hela-S3	cervix:
32	chr16:48380431..48382791-chr16:48417861..48420626,2	K562	blood:
33	chr16:48419410..48421944-chr16:48545496..48547470,2	MCF-7	breast:
34	chr1:153508413..153509221-chr16:48418944..48419933,2	Hela-S3	cervix:
35	chr16:48416330..48420180-chr16:48420798..48424375,5	K562	blood:
36	chr16:48417393..48419556-chr16:48443282..48445688,3	MCF-7	breast:
37	chr16:48418147..48420049-chr16:48475413..48478190,2	MCF-7	breast:
38	chr16:48417831..48419952-chr16:48431976..48435683,3	MCF-7	breast:
39	chr16:48398121..48402229-chr16:48414201..48420573,11	MCF-7	breast:
40	chr16:48416330..48419738-chr16:48422315..48424375,4	K562	blood:
41	chr16:48417747..48421302-chr16:48425164..48430136,6	K562	blood:
42	chr16:48417747..48421302-chr16:48425164..48430136,6	K562	blood:
43	chr16:48429591..48432273-chr16:48438354..48440498,2	K562	blood:
44	chr16:48392029..48394915-chr16:48416777..48418892,2	MCF-7	breast:
45	chr16:48388703..48393705-chr16:48416034..48420195,6	K562	blood:
46	chr16:48418091..48421032-chr16:48458752..48460983,3	MCF-7	breast:
47	chr16:48417496..48421533-chr16:48436158..48441715,5	K562	blood:
48	chr15:85291369..85292229-chr16:48418740..48419424,2	Hela-S3	cervix:
49	chr16:48422311..48424434-chr16:48426532..48428467,2	K562	blood:
50	chr16:48388635..48393801-chr16:48416034..48420195,7	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-N4BP1-1	chr16:48481815-48481992	ENSG00000261802.1
2	lnc-N4BP1-1	chr16:48482180-48482309	ENSG00000261802.1
3	lnc-LONP2-7	chr16:48448392-48448713	uc_398_+
4	lnc-LONP2-7	chr16:48448689-48448970	NONHSAT142324
5	lnc-N4BP1-2	chr16:48448392-48448713	uc_398_-

No data

Variant related genes	Relation type
SIAH1	TF binding region
ENSG00000261802	TF binding region
RN7SL54P	TF binding region
ENSG00000239138	TF binding region
SIAH1	CpG island
ENSG00000261802	CpG island
RN7SL54P	CpG island
ENSG00000239138	CpG island
ENSG00000109111	chromatin interactions
ENSG00000130303	chromatin interactions
ENSG00000255513	chromatin interactions
ENSG00000102910	chromatin interactions
ENSG00000205885	chromatin interactions
ENSG00000167526	chromatin interactions
ENSG00000132581	chromatin interactions
ENSG00000102921	chromatin interactions
ENSG00000143493	chromatin interactions
ENSG00000121270	chromatin interactions
ENSG00000240793	chromatin interactions
ENSG00000139178	chromatin interactions
ENSG00000110955	chromatin interactions
ENSG00000197956	chromatin interactions
ENSG00000264395	chromatin interactions
ENSG00000143476	chromatin interactions
ENSG00000132286	chromatin interactions
ENSG00000102893	chromatin interactions
ENSG00000132254	chromatin interactions
ENSG00000261802	chromatin interactions
ENSG00000198911	chromatin interactions
ENSG00000196470	chromatin interactions
ENSG00000166716	chromatin interactions
ENSG00000140988	chromatin interactions
ENSG00000129636	chromatin interactions
ENSG00000265264	chromatin interactions
ENSG00000255198	chromatin interactions

Extended variants
information (count: 2306 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2306 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115372278	chr16:48417408-48417409	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs144460438	chr16:48417413-48417414	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs572567394	chr16:48417467-48417468	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs147975455	chr16:48417468-48417469	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs532979593	chr16:48417479-48417480	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs543176900	chr16:48417486-48417487	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs563275863	chr16:48417494-48417495	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs143389011	chr16:48417518-48417519	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs56872747	chr16:48417535-48417536	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs533215488	chr16:48417562-48417563	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs535824667	chr16:48417569-48417570	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs566054267	chr16:48417575-48417576	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs190452930	chr16:48417596-48417597	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs551907169	chr16:48417599-48417600	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs568738640	chr16:48417622-48417623	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs571736722	chr16:48417637-48417638	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs536125476	chr16:48417666-48417667	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs545975635	chr16:48417685-48417686	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs77723703	chr16:48417730-48417731	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs557568883	chr16:48417758-48417759	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs568008016	chr16:48417760-48417761	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs368730466	chr16:48417762-48417763	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs200107002	chr16:48417787-48417788	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs536944175	chr16:48417811-48417812	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs140981089	chr16:48417844-48417845	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs183196361	chr16:48417874-48417875	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs534297126	chr16:48417889-48417890	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs557445020	chr16:48417900-48417901	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs114983571	chr16:48417917-48417918	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs543240350	chr16:48417945-48417946	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs563137765	chr16:48417999-48418000	Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs573892054	chr16:48418029-48418030	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs143213737	chr16:48418031-48418032	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs559336178	chr16:48418052-48418053	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs186309088	chr16:48418057-48418058	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs551783976	chr16:48418086-48418087	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs534919148	chr16:48418161-48418162	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs565408071	chr16:48418173-48418174	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs538359545	chr16:48418185-48418186	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs531024154	chr16:48418195-48418196	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs150876465	chr16:48418218-48418219	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs4785518	chr16:48418274-48418275	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs139326359	chr16:48418321-48418322	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs575886760	chr16:48418398-48418399	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs546370108	chr16:48418403-48418404	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs150005106	chr16:48418407-48418408	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs547296458	chr16:48418411-48418412	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs191550754	chr16:48418441-48418442	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs145208635	chr16:48418460-48418461	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs557307574	chr16:48418462-48418463	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Colorectal cancer	19359472	CNVD
Olfactory neuroblastoma	18408657	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Disease	22140031	CNVD
Non-syndromic sensorineural hearing loss	22140031	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:1089 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48400600-48417600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:48400800-48417800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:48409400-48417800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr16:48410400-48417600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr16:48411600-48417400	Enhancers	Primary B cells from cord blood	blood
6	chr16:48411800-48417800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:48413200-48417800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr16:48413400-48417400	Weak transcription	Colonic Mucosa	Colon
9	chr16:48413400-48417600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr16:48413400-48417600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr16:48413800-48417400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr16:48414000-48417400	Weak transcription	Primary T cells from cord blood	blood
13	chr16:48414200-48417800	Weak transcription	Esophagus	oesophagus
14	chr16:48414200-48417800	Weak transcription	Small Intestine	intestine
15	chr16:48414400-48417400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr16:48414400-48418000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr16:48414600-48417400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr16:48415200-48417600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr16:48415200-48417600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr16:48415200-48417800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr16:48415200-48418200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr16:48415400-48417800	Weak transcription	Gastric	stomach
23	chr16:48415400-48419800	Active TSS	GM12878-XiMat	blood
24	chr16:48415600-48417400	Enhancers	Fetal Lung	lung
25	chr16:48416000-48417400	Enhancers	Fetal Intestine Small	intestine
26	chr16:48416000-48417600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr16:48416200-48417400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:48416200-48417400	Weak transcription	Fetal Muscle Leg	muscle
29	chr16:48416200-48417400	Weak transcription	Right Ventricle	heart
30	chr16:48416200-48417400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr16:48416200-48417600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr16:48416200-48417800	Weak transcription	Spleen	Spleen
33	chr16:48416200-48418200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr16:48416400-48417600	Weak transcription	Left Ventricle	heart
35	chr16:48416400-48417800	Weak transcription	Lung	lung
36	chr16:48416600-48417600	Flanking Active TSS	A549	lung
37	chr16:48416800-48417400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr16:48416800-48417400	Enhancers	Brain Hippocampus Middle	brain
39	chr16:48416800-48417600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr16:48416800-48417600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr16:48416800-48417600	Flanking Active TSS	HepG2	liver
42	chr16:48416800-48418000	Flanking Active TSS	Liver	Liver
43	chr16:48416800-48418200	Flanking Active TSS	Dnd41	blood
44	chr16:48416800-48418200	Flanking Active TSS	NHEK	skin
45	chr16:48416800-48418400	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr16:48416800-48420200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr16:48416800-48420200	Active TSS	HSMMtube	muscle
48	chr16:48416800-48420400	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr16:48417000-48417400	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr16:48417000-48417400	Active TSS	iPS-20b Cell Line	embryonic stem cell

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