Variant report

Variant	esv1820959
Chromosome Location	chr16:81069247-81070697
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:647)
CpG islands
(count:427)
Chromatin interactive
region (count:31)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:647 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

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	chr16:81069567-81070166	GM12878	blood:	n/a	chr16:81069865-81069878 chr16:81069919-81069932 chr16:81069914-81069927 chr16:81069981-81069994
11	BCLAF1	chr16:81069039-81069544	GM12878	blood:	n/a	n/a
12	BHLHE40	chr16:81069151-81069458	K562	blood:	n/a	n/a
13	BHLHE40	chr16:81069849-81070026	GM12878	blood:	n/a	chr16:81069922-81069938 chr16:81069905-81069921 chr16:81069916-81069932
14	BHLHE40	chr16:81070063-81070082	K562	blood:	n/a	n/a
15	BHLHE40	chr16:81069115-81069527	GM12878	blood:	n/a	n/a
16	BRCA1	chr16:81069139-81069434	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr16:81069301-81069328	HepG2	liver:	n/a	n/a
18	BRCA1	chr16:81070020-81070047	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr16:81069328-81069382	GM12878	blood:	n/a	n/a
20	BRCA1	chr16:81069189-81069476	H1-hESC	embryonic stem cell:	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	chr16:81069788-81070933	Hela-S3	cervix:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
24	CEBPB	chr16:81069093-81069426	H1-hESC	embryonic stem cell:	n/a	chr16:81069173-81069184
25	CEBPB	chr16:81070014-81070377	IMR90	lung:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
26	CEBPB	chr16:81070098-81070372	A549	lung:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
27	CEBPB	chr16:81070047-81070338	HepG2	liver:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
28	CEBPB	chr16:81069920-81070447	A549	lung:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
29	CEBPB	chr16:81069118-81069302	HepG2	liver:	n/a	chr16:81069173-81069184
30	CEBPB	chr16:81068907-81069337	GM12878	blood:	n/a	chr16:81069173-81069184
31	CEBPB	chr16:81070006-81070438	K562	blood:	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	chr16:81070008-81071044	K562	blood:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
34	CEBPB	chr16:81069945-81070447	MCF-7	breast:	n/a	chr16:81070188-81070199 chr16:81070187-81070198
35	CEBPB	chr16:81069045-81069493	Hela-S3	cervix:	n/a	chr16:81069173-81069184
36	CEBPD	chr16:81069215-81069605	HepG2	liver:	n/a	n/a
37	CEBPZ	chr16:81069145-81069345	HepG2	liver:	n/a	n/a
38	CHD1	chr16:81069264-81070073	GM12878	blood:	n/a	chr16:81070007-81070017 chr16:81069401-81069411
39	CHD1	chr16:81069681-81070304	H1-hESC	embryonic stem cell:	n/a	chr16:81070007-81070017
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	chr16:81069302-81069353	HepG2	liver:	n/a	n/a
44	CHD2	chr16:81069113-81069460	H1-hESC	embryonic stem cell:	n/a	chr16:81069401-81069411
45	CHD2	chr16:81069962-81070226	H1-hESC	embryonic stem cell:	n/a	chr16:81070007-81070017
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	chr16:81069130-81069569	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr16:81069193-81069599	A549	lung:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:81070256-81070306	GM12892	blood:	n/a
2	chr16:81070256-81070306	T-47D	breast:	n/a
3	chr16:81070150-81070200	AG09309	skin:	n/a
4	chr16:81070256-81070306	GM12878	blood:	n/a
5	chr16:81069293-81069343	BE2_C	brain:	n/a
6	chr16:81069748-81069798	AG09319	gingival:	n/a
7	chr16:81069748-81069798	AG04449	skin:	fetal
8	chr16:81069740-81069790	MCF-7	breast:	n/a
9	chr16:81069748-81069798	ovcar-3	ovarian:	n/a
10	chr16:81069244-81069294	SAEC	small airway:	n/a
11	chr16:81069742-81069792	SK-N-MC	brain:	n/a
12	chr16:81069244-81069294	MCF10A-Er-Src	breast:	n/a
13	chr16:81070150-81070200	SK-N-SH_RA	brain:	n/a
14	chr16:81069293-81069343	AG09309	skin:	n/a
15	chr16:81069244-81069294	HEEpiC	esophagus:	n/a
16	chr16:81069742-81069792	HEEpiC	esophagus:	n/a
17	chr16:81069748-81069798	CMK	blood:	n/a
18	chr16:81070256-81070306	HCT-116	colon:	n/a
19	chr16:81070150-81070200	A549	lung:	n/a
20	chr16:81070150-81070200	NH-A	brain:	n/a
21	chr16:81069740-81069790	HepG2	liver:	n/a
22	chr16:81069244-81069294	PANC-1	pancreas:	n/a
23	chr16:81070256-81070306	GM19239	blood:	n/a
24	chr16:81069244-81069294	K562	blood:	n/a
25	chr16:81069742-81069792	HepG2	liver:	n/a
26	chr16:81069740-81069790	HRE	kidney:	n/a
27	chr16:81070256-81070306	NHBE	bronchial:	n/a
28	chr16:81070256-81070306	MCF10A-Er-Src	breast:	n/a
29	chr16:81069740-81069790	PFSK-1	brain:	n/a
30	chr16:81069742-81069792	NH-A	brain:	n/a
31	chr16:81069740-81069790	A549	lung:	n/a
32	chr16:81070150-81070200	HEEpiC	esophagus:	n/a
33	chr16:81070150-81070200	NHDF-neo	bronchial:	n/a
34	chr16:81070150-81070200	HMEC	breast:	n/a
35	chr16:81069748-81069798	Jurkat	blood:	n/a
36	chr16:81069742-81069792	GM06990	blood:	n/a
37	chr16:81069740-81069790	ProgFib	skin:	n/a
38	chr16:81069740-81069790	HAEpiC	amniotic membrane:	n/a
39	chr16:81070150-81070200	GM12878	blood:	n/a
40	chr16:81069244-81069294	GM19239	blood:	n/a
41	chr16:81069244-81069294	CMK	blood:	n/a
42	chr16:81070256-81070306	HPAEpiC	pulmonary alveolar:	n/a
43	chr16:81069742-81069792	SKMC	muscle:	n/a
44	chr16:81069742-81069792	HCM	heart:	n/a
45	chr16:81070256-81070306	BE2_C	brain:	n/a
46	chr16:81069740-81069790	PANC-1	pancreas:	n/a
47	chr16:81069244-81069294	ProgFib	skin:	n/a
48	chr16:81070150-81070200	HRCEpiC	kidney:	n/a
49	chr16:81069244-81069294	SK-N-SH_RA	brain:	n/a
50	chr16:81069293-81069343	PANC-1	pancreas:	n/a

(count:31 , 50 per page) page: 1

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

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

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

No data

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

Extended variants
information (count: 68 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	rs566576313	chr16:81069406-81069407	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
7	rs375799906	chr16:81069431-81069432	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
8	rs533683809	chr16:81069446-81069447	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
9	rs2602430	chr16:81069449-81069450	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
10	rs573547224	chr16:81069466-81069467	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
11	rs549686381	chr16:81069490-81069491	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
12	rs112575402	chr16:81069569-81069570	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	rs142522981	chr16:81069851-81069852	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
25	rs571263269	chr16:81069866-81069867	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
26	rs576850771	chr16:81069893-81069894	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
27	rs373540017	chr16:81069894-81069895	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
28	rs374688308	chr16:81069934-81069935	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
29	rs551146030	chr16:81069968-81069969	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
30	rs12935418	chr16:81070008-81070009	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs533630637	chr16:81070037-81070038	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs111803793	chr16:81070056-81070057	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs566372353	chr16:81070063-81070064	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs533779742	chr16:81070083-81070084	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs548845255	chr16:81070120-81070121	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs566976492	chr16:81070139-81070140	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs537672536	chr16:81070146-81070147	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs545749812	chr16:81070186-81070187	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs563178673	chr16:81070197-81070198	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs555907469	chr16:81070198-81070199	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs374821748	chr16:81070226-81070227	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
42	rs2602432	chr16:81070238-81070239	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs35054487	chr16:81070287-81070288	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
44	rs372536109	chr16:81070324-81070325	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
45	rs146000262	chr16:81070343-81070344	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
46	rs189897291	chr16:81070354-81070355	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
47	rs559336375	chr16:81070367-81070368	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs554033439	chr16:81070392-81070393	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs181702511	chr16:81070400-81070401	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
50	rs540584160	chr16:81070402-81070403	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 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:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81042000-81069600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:81042200-81069600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr16:81053000-81069400	Weak transcription	Aorta	Aorta
4	chr16:81055200-81069400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:81055200-81069600	Weak transcription	Spleen	Spleen
6	chr16:81055600-81069400	Weak transcription	Gastric	stomach
7	chr16:81055600-81069600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr16:81055800-81069400	Weak transcription	Left Ventricle	heart
9	chr16:81055800-81069600	Weak transcription	HSMMtube	muscle
10	chr16:81056200-81069600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr16:81057000-81069600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr16:81057600-81069400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:81057800-81069400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr16:81061000-81069400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr16:81062600-81069600	Weak transcription	Primary T cells from cord blood	blood
16	chr16:81062600-81069600	Weak transcription	NH-A	brain
17	chr16:81062800-81069600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr16:81062800-81069600	Weak transcription	NHDF-Ad	bronchial
19	chr16:81063800-81069600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr16:81064000-81069600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr16:81064000-81069600	Weak transcription	Fetal Thymus	thymus
22	chr16:81068600-81069600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr16:81068800-81069400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr16:81068800-81069600	Enhancers	Primary B cells from peripheral blood	blood
25	chr16:81068800-81070400	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr16:81068800-81070400	Active TSS	Brain Hippocampus Middle	brain
27	chr16:81068800-81071200	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr16:81069000-81069400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr16:81069000-81069400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr16:81069000-81069400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr16:81069000-81069400	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr16:81069000-81069400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr16:81069000-81069400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr16:81069000-81069400	Flanking Active TSS	Fetal Brain Male	brain
35	chr16:81069000-81069400	Enhancers	Lung	lung
36	chr16:81069000-81069400	Flanking Active TSS	Ovary	ovary
37	chr16:81069000-81069400	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr16:81069000-81069400	Flanking Active TSS	Dnd41	blood
39	chr16:81069000-81069400	Flanking Active TSS	NHEK	skin
40	chr16:81069000-81069600	Enhancers	Primary T cells fromperipheralblood	blood
41	chr16:81069000-81069600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr16:81069000-81069600	Enhancers	Liver	Liver
43	chr16:81069000-81069600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr16:81069000-81069600	Enhancers	HUVEC	blood vessel
45	chr16:81069000-81070200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:81069000-81070200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr16:81069000-81070200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr16:81069000-81070200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr16:81069000-81070200	Active TSS	Fetal Lung	lung
50	chr16:81069000-81070200	Active TSS	Rectal Smooth Muscle	rectum

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