Variant report

Variant	esv3374530
Chromosome Location	chr16:81068676-81071224
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:669)
CpG islands
(count:550)
Chromatin interactive
region (count:33)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:669 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:81069192-81069429	K562	blood:	n/a	n/a
2	ARID3A	chr16:81069098-81069480	HepG2	liver:	n/a	n/a
3	ATF1	chr16:81070644-81070935	K562	blood:	n/a	n/a
4	ATF3	chr16:81069088-81069501	GM12878	blood:	n/a	n/a
5	ATF3	chr16:81069273-81069432	GM12878	blood:	n/a	n/a
6	ATF3	chr16:81069206-81069438	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr16:81069117-81069467	K562	blood:	n/a	n/a
8	BACH1	chr16:81070075-81070126	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL3	chr16:81068962-81069496	A549	lung:	n/a	n/a
10	BCLAF1	chr16:81069039-81069544	GM12878	blood:	n/a	n/a
11	BCLAF1	chr16:81069567-81070166	GM12878	blood:	n/a	chr16:81069865-81069878 chr16:81069919-81069932 chr16:81069914-81069927 chr16:81069981-81069994
12	BHLHE40	chr16:81069151-81069458	K562	blood:	n/a	n/a
13	BHLHE40	chr16:81070063-81070082	K562	blood:	n/a	n/a
14	BHLHE40	chr16:81069115-81069527	GM12878	blood:	n/a	n/a
15	BHLHE40	chr16:81069849-81070026	GM12878	blood:	n/a	chr16:81069922-81069938 chr16:81069905-81069921 chr16:81069916-81069932
16	BRCA1	chr16:81069189-81069476	H1-hESC	embryonic stem cell:	n/a	n/a
17	BRCA1	chr16:81069328-81069382	GM12878	blood:	n/a	n/a
18	BRCA1	chr16:81069139-81069434	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr16:81070020-81070047	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr16:81069301-81069328	HepG2	liver:	n/a	n/a
21	CBX3	chr16:81069029-81069463	K562	blood:	n/a	n/a
22	CCNT2	chr16:81069068-81070115	K562	blood:	n/a	n/a
23	CEBPB	chr16:81069045-81069493	Hela-S3	cervix:	n/a	chr16:81069173-81069184
24	CEBPB	chr16:81069118-81069302	HepG2	liver:	n/a	chr16:81069173-81069184
25	CEBPB	chr16:81069920-81070447	A549	lung:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
26	CEBPB	chr16:81069945-81070447	MCF-7	breast:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
27	CEBPB	chr16:81068907-81069337	GM12878	blood:	n/a	chr16:81069173-81069184
28	CEBPB	chr16:81069093-81069426	H1-hESC	embryonic stem cell:	n/a	chr16:81069173-81069184
29	CEBPB	chr16:81070047-81070338	HepG2	liver:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
30	CEBPB	chr16:81070008-81071044	K562	blood:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
31	CEBPB	chr16:81070014-81070377	IMR90	lung:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
32	CEBPB	chr16:81070001-81070214	H1-hESC	embryonic stem cell:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
33	CEBPB	chr16:81070006-81070438	K562	blood:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
34	CEBPB	chr16:81069788-81070933	Hela-S3	cervix:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
35	CEBPB	chr16:81070098-81070372	A549	lung:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
36	CEBPD	chr16:81069215-81069605	HepG2	liver:	n/a	n/a
37	CEBPZ	chr16:81069145-81069345	HepG2	liver:	n/a	n/a
38	CHD1	chr16:81069681-81070304	H1-hESC	embryonic stem cell:	n/a	chr16:81070007-81070017
39	CHD1	chr16:81069264-81070073	GM12878	blood:	n/a	chr16:81070007-81070017 chr16:81069401-81069411
40	CHD2	chr16:81069869-81070032	K562	blood:	n/a	chr16:81070007-81070017
41	CHD2	chr16:81069169-81069394	K562	blood:	n/a	n/a
42	CHD2	chr16:81069194-81069546	Hela-S3	cervix:	n/a	chr16:81069401-81069411
43	CHD2	chr16:81069962-81070226	H1-hESC	embryonic stem cell:	n/a	chr16:81070007-81070017
44	CHD2	chr16:81069113-81069460	H1-hESC	embryonic stem cell:	n/a	chr16:81069401-81069411
45	CHD2	chr16:81069302-81069353	HepG2	liver:	n/a	n/a
46	CHD2	chr16:81069223-81069507	GM12878	blood:	n/a	chr16:81069401-81069411
47	CHD2	chr16:81069822-81070226	Hela-S3	cervix:	n/a	chr16:81070007-81070017
48	CREB1	chr16:81069234-81069501	A549	lung:	n/a	n/a
49	CREB1	chr16:81069193-81069599	A549	lung:	n/a	n/a
50	CREB1	chr16:81069130-81069569	H1-hESC	embryonic stem cell:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:81069742-81069792	IMR90	lung:	fetal
2	chr16:81069742-81069792	IMR90	lung:	fetal
3	chr16:81069748-81069798	HUVEC	blood vessel:	n/a
4	chr16:81069184-81069234	SAEC	small airway:	n/a
5	chr16:81069293-81069343	HEK293	kidney:	embryo
6	chr16:81069005-81069055	Hela-S3	cervix:	n/a
7	chr16:81069748-81069798	A549	lung:	n/a
8	chr16:81069184-81069234	HCF	heart:	n/a
9	chr16:81069184-81069234	AG04449	skin:	fetal
10	chr16:81069742-81069792	U87	brain:	n/a
11	chr16:81069184-81069234	T-47D	breast:	n/a
12	chr16:81069740-81069790	Jurkat	blood:	n/a
13	chr16:81070150-81070200	AoSMC	blood vessel:	n/a
14	chr16:81069244-81069294	ProgFib	skin:	n/a
15	chr16:81069748-81069798	H1-hESC	embryonic stem cell:	embryo
16	chr16:81070256-81070306	HIPEpiC	eye:	n/a
17	chr16:81069184-81069234	HepG2	liver:	n/a
18	chr16:81069740-81069790	AoSMC	blood vessel:	n/a
19	chr16:81069742-81069792	HCT-116	colon:	n/a
20	chr16:81070256-81070306	HUVEC	blood vessel:	n/a
21	chr16:81069293-81069343	SK-N-MC	brain:	n/a
22	chr16:81069184-81069234	HMEC	breast:	n/a
23	chr16:81069244-81069294	HEEpiC	esophagus:	n/a
24	chr16:81069293-81069343	HRPEpiC	eye:	n/a
25	chr16:81069742-81069792	PANC-1	pancreas:	n/a
26	chr16:81069244-81069294	HEK293	kidney:	embryo
27	chr16:81069184-81069234	NHBE	bronchial:	n/a
28	chr16:81070150-81070200	U87	brain:	n/a
29	chr16:81069740-81069790	HRCEpiC	kidney:	n/a
30	chr16:81069742-81069792	HAEpiC	amniotic membrane:	n/a
31	chr16:81069244-81069294	NB4	blood:	n/a
32	chr16:81069748-81069798	CMK	blood:	n/a
33	chr16:81069293-81069343	HAEpiC	amniotic membrane:	n/a
34	chr16:81069293-81069343	NHBE	bronchial:	n/a
35	chr16:81069748-81069798	GM12892	blood:	n/a
36	chr16:81069740-81069790	PrEC	prostate:	n/a
37	chr16:81069293-81069343	MCF10A-Er-Src	breast:	n/a
38	chr16:81069748-81069798	HepG2	liver:	n/a
39	chr16:81070256-81070306	SK-N-SH	brain:	n/a
40	chr16:81069184-81069234	GM19239	blood:	n/a
41	chr16:81070150-81070200	HRCEpiC	kidney:	n/a
42	chr16:81069293-81069343	HPAEpiC	pulmonary alveolar:	n/a
43	chr16:81069740-81069790	NHBE	bronchial:	n/a
44	chr16:81069742-81069792	HL-60	blood:	n/a
45	chr16:81069748-81069798	GM19239	blood:	n/a
46	chr16:81070256-81070306	MCF10A-Er-Src	breast:	n/a
47	chr16:81070256-81070306	HRCEpiC	kidney:	n/a
48	chr16:81069244-81069294	GM12892	blood:	n/a
49	chr16:81069005-81069055	H1-hESC	embryonic stem cell:	embryo
50	chr16:81069005-81069055	GM19239	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr16:81056423..81058180-chr16:81069392..81072113,2	MCF-7	breast:
2	chr16:81061882..81066764-chr16:81067446..81071538,9	MCF-7	breast:
3	chr16:81069322..81070029-chr5:112256640..112257405,2	Hela-S3	cervix:
4	chr16:81068894..81069816-chr16:81231960..81232923,14	MCF-7	breast:
5	chr16:81067878..81071089-chr16:81109086..81112093,6	K562	blood:
6	chr16:81056962..81059865-chr16:81068197..81070898,3	K562	blood:
7	chr16:81068163..81070898-chr16:81108747..81112001,7	MCF-7	breast:
8	chr16:81068890..81071040-chr16:81770218..81773249,4	MCF-7	breast:
9	chr16:81039925..81040655-chr16:81068862..81069785,3	MCF-7	breast:
10	chr16:81070898..81072766-chr16:81109747..81111312,2	MCF-7	breast:
11	chr16:81069337..81069924-chr17:39845078..39845594,2	Hela-S3	cervix:
12	chr16:81068207..81071925-chr16:81073357..81079831,13	MCF-7	breast:
13	chr16:81052685..81055352-chr16:81069386..81070952,2	MCF-7	breast:
14	chr16:81037151..81044642-chr16:81065528..81070966,16	K562	blood:
15	chr16:81066967..81071215-chr16:81128766..81132498,3	MCF-7	breast:
16	chr16:81051240..81053871-chr16:81067800..81070435,3	K562	blood:
17	chr16:81037151..81042784-chr16:81066438..81073797,14	K562	blood:
18	chr16:81055761..81058462-chr16:81067542..81069697,2	K562	blood:
19	chr16:81068545..81070466-chr16:81128738..81130368,2	K562	blood:
20	chr16:81068843..81069464-chr16:81129450..81130206,2	MCF-7	breast:
21	chr16:81068976..81069841-chr16:81110418..81110934,2	MCF-7	breast:
22	chr16:81069108..81070906-chr16:81231938..81234335,3	MCF-7	breast:
23	chr16:81069280..81069978-chr21:48054904..48055633,2	Hela-S3	cervix:
24	chr16:81038105..81044923-chr16:81066300..81070952,14	MCF-7	breast:
25	chr16:81068545..81070561-chr16:81128158..81130238,2	K562	blood:
26	chr16:81037996..81043724-chr16:81066407..81071400,11	MCF-7	breast:
27	chr16:81067728..81071580-chr16:81109086..81113987,13	K562	blood:
28	chr16:81054446..81058037-chr16:81066516..81068816,3	MCF-7	breast:
29	chr16:81069395..81071569-chr16:81120451..81122846,2	K562	blood:
30	chr16:81067967..81070895-chr16:81477501..81479169,2	K562	blood:
31	chr16:81067084..81072191-chr16:81106033..81112629,21	MCF-7	breast:
32	chr16:81068964..81069731-chr16:81231614..81232947,4	MCF-7	breast:
33	chr16:81068173..81071730-chr16:81126382..81131671,6	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C16orf61-1	chr16:81069274-81069339	ENSG00000260213.1
2	lnc-C16orf61-1	chr16:81069274-81069364	ENSG00000260213.1

No data

Variant related genes	Relation type
ATMIN	TF binding region
ENSG00000260213	TF binding region
ATMIN	CpG island
ENSG00000260213	CpG island
ENSG00000166451	chromatin interactions
ENSG00000153815	chromatin interactions
ENSG00000160310	chromatin interactions
ENSG00000166455	chromatin interactions
ENSG00000197943	chromatin interactions
ENSG00000166454	chromatin interactions
ENSG00000166473	chromatin interactions
ENSG00000129625	chromatin interactions
ENSG00000103121	chromatin interactions
ENSG00000245059	chromatin interactions
ENSG00000260213	chromatin interactions
ENSG00000260643	chromatin interactions
ENSG00000140905	chromatin interactions
ENSG00000261218	chromatin interactions
ENSG00000173812	chromatin interactions
ENSG00000261061	chromatin interactions

Extended variants
information (count: 126 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150369393	chr16:81068676-81068677	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs570607695	chr16:81068681-81068682	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs369655161	chr16:81068690-81068691	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs553649554	chr16:81068705-81068706	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs536191178	chr16:81068708-81068709	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs557668838	chr16:81068738-81068739	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs62054589	chr16:81068748-81068749	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs553014083	chr16:81068749-81068750	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs572666416	chr16:81068766-81068767	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs557841667	chr16:81068834-81068835	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs572802635	chr16:81068851-81068852	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs935945	chr16:81068888-81068889	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs188350742	chr16:81068903-81068904	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs535031643	chr16:81068932-81068933	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs192984615	chr16:81068934-81068935	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs184665479	chr16:81068970-81068971	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs138097700	chr16:81069006-81069007	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs368806465	chr16:81069031-81069032	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs200406792	chr16:81069033-81069034	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs188533672	chr16:81069038-81069039	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs575380475	chr16:81069040-81069041	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs564627694	chr16:81069062-81069063	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs55764035	chr16:81069067-81069068	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs528544329	chr16:81069208-81069209	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs547057939	chr16:81069215-81069216	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs191455679	chr16:81069225-81069226	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs183597165	chr16:81069244-81069245	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs555273164	chr16:81069248-81069249	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs551338988	chr16:81069263-81069264	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs79720350	chr16:81069299-81069300	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
31	rs11150337	chr16:81069317-81069318	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs551061090	chr16:81069375-81069376	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
33	rs566576313	chr16:81069406-81069407	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
34	rs375799906	chr16:81069431-81069432	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
35	rs533683809	chr16:81069446-81069447	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
36	rs2602430	chr16:81069449-81069450	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
37	rs573547224	chr16:81069466-81069467	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
38	rs549686381	chr16:81069490-81069491	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
39	rs112575402	chr16:81069569-81069570	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
40	rs182059505	chr16:81069601-81069602	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
41	rs556042759	chr16:81069612-81069613	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
42	rs371979715	chr16:81069661-81069662	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
43	rs3112032	chr16:81069668-81069669	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
44	rs375938557	chr16:81069670-81069671	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
45	rs200817365	chr16:81069691-81069692	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs150799758	chr16:81069751-81069752	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
47	rs199862670	chr16:81069770-81069771	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
48	rs111646967	chr16:81069836-81069837	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
49	rs573170861	chr16:81069841-81069842	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
50	rs115484651	chr16:81069842-81069843	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:653 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81041800-81069000	Weak transcription	Ovary	ovary
2	chr16:81041800-81069000	Weak transcription	Small Intestine	intestine
3	chr16:81042000-81069000	Weak transcription	Esophagus	oesophagus
4	chr16:81042000-81069000	Weak transcription	Pancreas	Pancrea
5	chr16:81042000-81069600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr16:81042200-81068800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr16:81042200-81069000	Weak transcription	Colonic Mucosa	Colon
8	chr16:81042200-81069600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr16:81042400-81069000	Weak transcription	Brain Germinal Matrix	brain
10	chr16:81042400-81069000	Weak transcription	Fetal Heart	heart
11	chr16:81047800-81069000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr16:81048400-81069000	Weak transcription	Fetal Kidney	kidney
13	chr16:81048600-81069000	Weak transcription	Fetal Brain Female	brain
14	chr16:81049000-81069000	Weak transcription	Right Ventricle	heart
15	chr16:81050200-81069000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr16:81050600-81069000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr16:81053000-81069400	Weak transcription	Aorta	Aorta
18	chr16:81053400-81068800	Weak transcription	Brain Angular Gyrus	brain
19	chr16:81053600-81069000	Weak transcription	Brain Anterior Caudate	brain
20	chr16:81053800-81068800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr16:81054000-81068800	Weak transcription	Brain Substantia Nigra	brain
22	chr16:81054200-81069000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr16:81055200-81068800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr16:81055200-81069400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:81055200-81069600	Weak transcription	Spleen	Spleen
26	chr16:81055400-81069000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr16:81055400-81069200	Weak transcription	NHLF	lung
28	chr16:81055600-81069000	Weak transcription	Lung	lung
29	chr16:81055600-81069400	Weak transcription	Gastric	stomach
30	chr16:81055600-81069600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr16:81055800-81069000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr16:81055800-81069400	Weak transcription	Left Ventricle	heart
33	chr16:81055800-81069600	Weak transcription	HSMMtube	muscle
34	chr16:81056200-81069600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr16:81056600-81068800	Weak transcription	Brain Hippocampus Middle	brain
36	chr16:81057000-81069000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr16:81057000-81069000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr16:81057000-81069600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr16:81057200-81069000	Weak transcription	Primary B cells from cord blood	blood
40	chr16:81057600-81069400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr16:81057800-81069400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr16:81058200-81069000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr16:81061000-81069400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr16:81061200-81069000	Weak transcription	Fetal Lung	lung
45	chr16:81061400-81068800	Weak transcription	Fetal Intestine Small	intestine
46	chr16:81061600-81069000	Weak transcription	Fetal Muscle Leg	muscle
47	chr16:81062200-81069200	Weak transcription	HSMM	muscle
48	chr16:81062600-81069000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr16:81062600-81069000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr16:81062600-81069000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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