Variant report

Variant	nsv978002
Chromosome Location	chr16:75274402-75288324
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1209)
CpG islands
(count:1282)
Chromatin interactive
region (count:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1209 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:75278790-75279778	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:75285503-75285526	HepG2	liver:	n/a	n/a
3	ARID3A	chr16:75284754-75284989	HepG2	liver:	n/a	n/a
4	ATF2	chr16:75287100-75287778	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr16:75278958-75279468	A549	lung:	n/a	chr16:75279119-75279128
6	BACH1	chr16:75284983-75285055	K562	blood:	n/a	n/a
7	BACH1	chr16:75287349-75287641	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr16:75279083-75279318	GM12878	blood:	n/a	n/a
9	BCL3	chr16:75279078-75279382	GM12878	blood:	n/a	chr16:75279177-75279190 chr16:75279200-75279209
10	BCL3	chr16:75278595-75279341	A549	lung:	n/a	chr16:75279177-75279190 chr16:75278842-75278851 chr16:75279200-75279209
11	BCL3	chr16:75278966-75279849	A549	lung:	n/a	chr16:75279177-75279190 chr16:75279200-75279209 chr16:75279429-75279438
12	BCL3	chr16:75287948-75288419	A549	lung:	n/a	n/a
13	BCL3	chr16:75274919-75275235	GM12878	blood:	n/a	n/a
14	BCL3	chr16:75285077-75285542	A549	lung:	n/a	chr16:75285477-75285490 chr16:75285464-75285477
15	BHLHE40	chr16:75284677-75284774	K562	blood:	n/a	n/a
16	BHLHE40	chr16:75284275-75285442	HepG2	liver:	n/a	chr16:75284384-75284400 chr16:75284817-75284833
17	BHLHE40	chr16:75285775-75285965	K562	blood:	n/a	n/a
18	BHLHE40	chr16:75279217-75279685	A549	lung:	n/a	n/a
19	BHLHE40	chr16:75278877-75279832	HepG2	liver:	n/a	n/a
20	BRCA1	chr16:75281445-75281519	HepG2	liver:	n/a	n/a
21	BRCA1	chr16:75279192-75279828	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr16:75284521-75285348	HepG2	liver:	n/a	n/a
23	BRCA1	chr16:75278725-75279569	HepG2	liver:	n/a	n/a
24	CCNT2	chr16:75279081-75279220	K562	blood:	n/a	chr16:75279177-75279186
25	CCNT2	chr16:75284629-75285704	K562	blood:	n/a	n/a
26	CEBPB	chr16:75288232-75288930	IMR90	lung:	n/a	chr16:75288383-75288396
27	CEBPB	chr16:75288129-75288932	MCF-7	breast:	n/a	chr16:75288383-75288396
28	CEBPB	chr16:75279044-75279707	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr16:75288308-75288607	H1-hESC	embryonic stem cell:	n/a	chr16:75288383-75288396
30	CEBPB	chr16:75286153-75286172	HepG2	liver:	n/a	n/a
31	CEBPB	chr16:75288146-75288913	MCF-7	breast:	n/a	chr16:75288383-75288396
32	CEBPB	chr16:75287393-75287783	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr16:75288271-75288930	A549	lung:	n/a	chr16:75288383-75288396
34	CEBPB	chr16:75279054-75279664	HepG2	liver:	n/a	n/a
35	CEBPB	chr16:75284270-75284648	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr16:75284528-75284698	HepG2	liver:	n/a	n/a
37	CEBPD	chr16:75284486-75285945	HepG2	liver:	n/a	n/a
38	CEBPD	chr16:75278828-75279745	HepG2	liver:	n/a	n/a
39	CEBPD	chr16:75278970-75279443	HepG2	liver:	n/a	n/a
40	CHD1	chr16:75282576-75286469	IMR90	lung:	n/a	n/a
41	CHD1	chr16:75287137-75287666	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD1	chr16:75286109-75286118	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD1	chr16:75285258-75285269	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr16:75287262-75287791	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr16:75278956-75279762	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr16:75285754-75285786	GM12878	blood:	n/a	n/a
47	CHD2	chr16:75279057-75279389	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr16:75284554-75285935	HepG2	liver:	n/a	n/a
49	CHD2	chr16:75284641-75284673	K562	blood:	n/a	n/a
50	CHD2	chr16:75286150-75286407	HepG2	liver:	n/a	n/a

(count:1282 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:75285503-75285553	SK-N-SH	brain:	n/a
2	chr16:75285503-75285553	SK-N-SH	brain:	n/a
3	chr16:75285489-75285539	GM12878	blood:	n/a
4	chr16:75276399-75276449	HAEpiC	amniotic membrane:	n/a
5	chr16:75282094-75282144	SK-N-SH	brain:	n/a
6	chr16:75285647-75285697	HCT-116	colon:	n/a
7	chr16:75282051-75282101	NH-A	brain:	n/a
8	chr16:75275068-75275118	MCF-7	breast:	n/a
9	chr16:75285647-75285697	ProgFib	skin:	n/a
10	chr16:75286009-75286059	NH-A	brain:	n/a
11	chr16:75286915-75286965	HRCEpiC	kidney:	n/a
12	chr16:75284882-75284932	Jurkat	blood:	n/a
13	chr16:75287019-75287069	H1-hESC	embryonic stem cell:	embryo
14	chr16:75285647-75285697	ECC-1	luminal epithelium:	n/a
15	chr16:75282094-75282144	HCM	heart:	n/a
16	chr16:75282051-75282101	BE2_C	brain:	n/a
17	chr16:75285687-75285737	SK-N-MC	brain:	n/a
18	chr16:75285503-75285553	PFSK-1	brain:	n/a
19	chr16:75287019-75287069	HPAEpiC	pulmonary alveolar:	n/a
20	chr16:75286915-75286965	HAEpiC	amniotic membrane:	n/a
21	chr16:75283093-75283143	HRCEpiC	kidney:	n/a
22	chr16:75285489-75285539	HEK293	kidney:	embryo
23	chr16:75279566-75279616	LNCaP	prostate:	n/a
24	chr16:75283648-75283698	HRCEpiC	kidney:	n/a
25	chr16:75284882-75284932	K562	blood:	n/a
26	chr16:75285489-75285539	HNPCEpiC	eye:	n/a
27	chr16:75276399-75276449	HEEpiC	esophagus:	n/a
28	chr16:75285726-75285776	NT2-D1	testis:	n/a
29	chr16:75285194-75285244	NT2-D1	testis:	n/a
30	chr16:75285489-75285539	PrEC	prostate:	n/a
31	chr16:75285489-75285539	SAEC	small airway:	n/a
32	chr16:75284882-75284932	HCT-116	colon:	n/a
33	chr16:75283648-75283698	HCF	heart:	n/a
34	chr16:75275068-75275118	K562	blood:	n/a
35	chr16:75285687-75285737	HCF	heart:	n/a
36	chr16:75287019-75287069	HIPEpiC	eye:	n/a
37	chr16:75285647-75285697	HRCEpiC	kidney:	n/a
38	chr16:75276399-75276449	AoSMC	blood vessel:	n/a
39	chr16:75287019-75287069	A549	lung:	n/a
40	chr16:75283648-75283698	LNCaP	prostate:	n/a
41	chr16:75275068-75275118	NHDF-neo	bronchial:	n/a
42	chr16:75282783-75282833	Hela-S3	cervix:	n/a
43	chr16:75275068-75275118	HUVEC	blood vessel:	n/a
44	chr16:75285726-75285776	HNPCEpiC	eye:	n/a
45	chr16:75282362-75282412	CMK	blood:	n/a
46	chr16:75285087-75285137	HPAEpiC	pulmonary alveolar:	n/a
47	chr16:75285726-75285776	HMEC	breast:	n/a
48	chr16:75287019-75287069	SK-N-SH_RA	brain:	n/a
49	chr16:75276399-75276449	AG10803	skin:	n/a
50	chr16:75286915-75286965	HCPEpiC	choroid plexus:	n/a

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75282975..75286210-chr16:75340217..75342691,3	K562	blood:
2	chr10:3214433..3215063-chr16:75285248..75285799,2	Hela-S3	cervix:
3	chr16:75271315..75273372-chr16:75275391..75277280,2	K562	blood:
4	chr16:75284019..75287279-chr16:75466611..75469457,3	MCF-7	breast:
5	chr16:75278019..75280837-chr16:75435564..75439238,4	MCF-7	breast:
6	chr16:75284907..75286555-chr16:75465225..75468013,2	MCF-7	breast:
7	chr16:75270029..75275734-chr16:75275780..75279452,5	K562	blood:
8	chr16:75281152..75283555-chr16:75283851..75285777,2	K562	blood:
9	chr16:75285841..75288097-chr16:75366002..75368998,2	MCF-7	breast:
10	chr16:75284336..75286423-chr16:75467172..75469281,2	K562	blood:
11	chr16:75271644..75278130-chr16:75410170..75415316,7	MCF-7	breast:
12	chr16:75270029..75275734-chr16:75275780..75279452,5	K562	blood:
13	chr16:75285160..75285722-chr16:75299383..75300023,2	MCF-7	breast:
14	chr16:75261304..75263525-chr16:75287372..75289617,2	K562	blood:
15	chr12:123010775..123011709-chr16:75285031..75285546,2	Hela-S3	cervix:
16	chr16:75266165..75267997-chr16:75273456..75276001,2	K562	blood:
17	chr16:75277872..75280775-chr16:75339667..75341248,2	MCF-7	breast:
18	chr16:75283944..75286001-chr16:75320233..75321893,2	MCF-7	breast:
19	chr16:75279924..75282284-chr16:75466090..75468408,2	K562	blood:
20	chr16:75282816..75286451-chr16:75415036..75419347,4	MCF-7	breast:
21	chr16:75283952..75284833-chr4:100870945..100871827,2	Hela-S3	cervix:
22	chr16:75260096..75262598-chr16:75274071..75277051,2	K562	blood:
23	chr16:75281206..75283355-chr16:75320437..75323255,2	MCF-7	breast:
24	chr16:75281152..75283555-chr16:75283851..75285777,2	K562	blood:
25	chr16:75285017..75285662-chr18:45456350..45457311,2	Hela-S3	cervix:
26	chr16:75282912..75287259-chr16:75337955..75341068,4	MCF-7	breast:
27	chr16:75279429..75281424-chr16:75466908..75468621,2	K562	blood:
28	chr16:75282402..75286042-chr16:75337577..75341093,9	MCF-7	breast:
29	chr16:75283733..75286666-chr17:57922628..57925329,2	MCF-7	breast:
30	chr16:75285561..75287264-chr8:86851129..86852972,2	MCF-7	breast:
31	chr16:75239080..75244320-chr16:75282735..75286046,5	K562	blood:
32	chr16:75258215..75260449-chr16:75277050..75278735,2	K562	blood:
33	chr16:75278100..75280781-chr16:75467014..75469094,2	MCF-7	breast:
34	chr16:75259564..75261896-chr16:75284703..75287235,2	K562	blood:
35	chr15:65808939..65809923-chr16:75284799..75285585,2	Hela-S3	cervix:
36	chr1:117601739..117602655-chr16:75284708..75285399,2	NB4	blood:
37	chr16:75284175..75286207-chr16:75680901..75683623,2	MCF-7	breast:

No data

Variant related genes	Relation type
BCAR1	TF binding region
BCAR1	CpG island
ENSG00000050820	chromatin interactions
ENSG00000153774	chromatin interactions
ENSG00000261783	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000245322	chromatin interactions
ENSG00000168928	chromatin interactions
ENSG00000175387	chromatin interactions
ENSG00000164032	chromatin interactions
ENSG00000253154	chromatin interactions
ENSG00000074603	chromatin interactions
ENSG00000065427	chromatin interactions
ENSG00000111011	chromatin interactions
ENSG00000236137	chromatin interactions
ENSG00000107959	chromatin interactions
ENSG00000166848	chromatin interactions
ENSG00000240338	chromatin interactions
ENSG00000252101	chromatin interactions

Extended variants
information (count: 721 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:721 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564621323	chr16:75274433-75274434	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs533615820	chr16:75274448-75274449	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs550094068	chr16:75274452-75274453	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs189856107	chr16:75274462-75274463	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs9921054	chr16:75274498-75274499	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs547848690	chr16:75274519-75274520	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs567719323	chr16:75274539-75274540	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs531281852	chr16:75274548-75274549	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs547707933	chr16:75274562-75274563	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs570638177	chr16:75274583-75274584	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs369827883	chr16:75274619-75274620	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs140180674	chr16:75274625-75274626	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs113975127	chr16:75274660-75274661	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs527889859	chr16:75274704-75274705	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs150334983	chr16:75274715-75274716	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs535962145	chr16:75274736-75274737	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs144892750	chr16:75274744-75274745	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs572520550	chr16:75274746-75274747	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs541058414	chr16:75274760-75274761	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs564837300	chr16:75274765-75274766	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs578173993	chr16:75274776-75274777	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs544068133	chr16:75274780-75274781	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs563558264	chr16:75274817-75274818	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs181775956	chr16:75274818-75274819	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs539070786	chr16:75274841-75274842	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs547926521	chr16:75274848-75274849	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs575508875	chr16:75274853-75274854	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs561436040	chr16:75274868-75274869	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs527313714	chr16:75274872-75274873	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs547055573	chr16:75274897-75274898	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs570399545	chr16:75274912-75274913	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs372633042	chr16:75274931-75274932	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs539366043	chr16:75274947-75274948	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs550007288	chr16:75274958-75274959	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs186892983	chr16:75274959-75274960	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs535643799	chr16:75274963-75274964	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs190630665	chr16:75274965-75274966	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs370469365	chr16:75274966-75274967	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs572556503	chr16:75274969-75274970	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs112058589	chr16:75274973-75274974	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs557891542	chr16:75274975-75274976	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs144843328	chr16:75274976-75274977	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs11645191	chr16:75274980-75274981	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs182015428	chr16:75274983-75274984	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs138766567	chr16:75274991-75274992	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs377337628	chr16:75275018-75275019	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs115714854	chr16:75275024-75275025	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs527416361	chr16:75275035-75275036	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs547434833	chr16:75275041-75275042	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs563933943	chr16:75275042-75275043	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1225 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75260800-75278000	Weak transcription	Small Intestine	intestine
2	chr16:75262000-75277400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
3	chr16:75263200-75274800	Weak transcription	Fetal Kidney	kidney
4	chr16:75264200-75274800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr16:75266600-75278800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:75268000-75277200	Genic enhancers	Spleen	Spleen
7	chr16:75268200-75277000	Strong transcription	H9 Cell Line	embryonic stem cell
8	chr16:75268400-75275600	Weak transcription	GM12878-XiMat	blood
9	chr16:75268600-75277800	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr16:75268800-75275000	Weak transcription	K562	blood
11	chr16:75269600-75280600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr16:75269800-75274800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:75270400-75278400	Genic enhancers	Fetal Muscle Leg	muscle
14	chr16:75270400-75278800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr16:75270600-75274800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr16:75271000-75275000	Enhancers	Brain Substantia Nigra	brain
17	chr16:75271000-75275400	Genic enhancers	Fetal Stomach	stomach
18	chr16:75271200-75274800	Enhancers	Left Ventricle	heart
19	chr16:75271200-75275000	Enhancers	Fetal Brain Male	brain
20	chr16:75271200-75278000	Genic enhancers	Fetal Muscle Trunk	muscle
21	chr16:75271400-75275200	Enhancers	Right Atrium	heart
22	chr16:75271600-75274800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr16:75271600-75275400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr16:75271800-75278200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr16:75272200-75274600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr16:75272200-75275200	Genic enhancers	Lung	lung
27	chr16:75272400-75274800	Enhancers	Fetal Heart	heart
28	chr16:75272400-75276200	Genic enhancers	HUVEC	blood vessel
29	chr16:75272800-75278800	Genic enhancers	Gastric	stomach
30	chr16:75273000-75277200	Genic enhancers	Right Ventricle	heart
31	chr16:75273200-75274800	Enhancers	Brain Anterior Caudate	brain
32	chr16:75273200-75275800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr16:75273200-75275800	Genic enhancers	NH-A	brain
34	chr16:75273200-75276000	Genic enhancers	Muscle Satellite Cultured Cells	--
35	chr16:75273200-75276200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr16:75273200-75277000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr16:75273200-75277200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr16:75273400-75274600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:75273400-75274800	Genic enhancers	Brain Inferior Temporal Lobe	brain
40	chr16:75273400-75276200	Weak transcription	Hela-S3	cervix
41	chr16:75273400-75277000	Genic enhancers	Brain Angular Gyrus	brain
42	chr16:75273400-75277000	Strong transcription	Fetal Intestine Small	intestine
43	chr16:75273400-75277600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr16:75273400-75277600	Strong transcription	Fetal Intestine Large	intestine
45	chr16:75273400-75277800	Weak transcription	Fetal Thymus	thymus
46	chr16:75273400-75278000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
47	chr16:75273600-75274800	Weak transcription	Aorta	Aorta
48	chr16:75273600-75274800	Weak transcription	HSMMtube	muscle
49	chr16:75273600-75275000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr16:75273600-75275000	Weak transcription	Ovary	ovary

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