Variant report

Variant	nsv906881
Chromosome Location	chr16:70688073-70700214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:400)
CpG islands
(count:673)
Chromatin interactive
region (count:38)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

(count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:70687569-70688101	K562	blood:	n/a	n/a
2	ARID3A	chr16:70690613-70690765	HepG2	liver:	n/a	n/a
3	ATF1	chr16:70687709-70688084	K562	blood:	n/a	n/a
4	BACH1	chr16:70696002-70696021	K562	blood:	n/a	n/a
5	BCL3	chr16:70695304-70695694	A549	lung:	n/a	n/a
6	BCL3	chr16:70696017-70696559	K562	blood:	n/a	n/a
7	BHLHE40	chr16:70687678-70688281	K562	blood:	n/a	n/a
8	BHLHE40	chr16:70690577-70691176	HepG2	liver:	n/a	n/a
9	CBX3	chr16:70687637-70688163	K562	blood:	n/a	n/a
10	CEBPB	chr16:70689767-70689934	HepG2	liver:	n/a	chr16:70689888-70689899
11	CEBPB	chr16:70689825-70690030	K562	blood:	n/a	chr16:70689888-70689899
12	CEBPB	chr16:70689836-70689980	A549	lung:	n/a	chr16:70689888-70689899
13	CEBPD	chr16:70690603-70690947	HepG2	liver:	n/a	n/a
14	CEBPD	chr16:70695416-70696509	HepG2	liver:	n/a	n/a
15	CEBPD	chr16:70694744-70695124	HepG2	liver:	n/a	n/a
16	CEBPZ	chr16:70687577-70688080	HepG2	liver:	n/a	n/a
17	CHD2	chr16:70696116-70696606	HepG2	liver:	n/a	n/a
18	CHD2	chr16:70698533-70698649	HepG2	liver:	n/a	n/a
19	CHD2	chr16:70695576-70696116	K562	blood:	n/a	n/a
20	CHD2	chr16:70696603-70696622	K562	blood:	n/a	n/a
21	CHD2	chr16:70694877-70694983	HepG2	liver:	n/a	n/a
22	CTCF	chr16:70690759-70691098	K562	blood:	n/a	n/a
23	CTCF	chr16:70690760-70690910	HCPEpiC	choroid plexus:	n/a	n/a
24	CTCF	chr16:70690790-70690922	LNCaP	prostate:	n/a	n/a
25	CTCF	chr16:70690760-70690910	MCF-7	breast:	n/a	n/a
26	CTCF	chr16:70687567-70688106	K562	blood:	n/a	chr16:70687789-70687810 chr16:70687794-70687812
27	CTCF	chr16:70690831-70690910	NHEK	skin:	n/a	n/a
28	CTCF	chr16:70688080-70688230	GM12874	blood:	n/a	chr16:70688186-70688199
29	CTCF	chr16:70690800-70690950	SAEC	small airway:	n/a	n/a
30	CTCF	chr16:70689119-70689138	GM13976	blood:	n/a	n/a
31	CTCF	chr16:70690834-70690895	GM12878	blood:	n/a	n/a
32	CTCF	chr16:70690760-70690910	SAEC	small airway:	n/a	n/a
33	CTCF	chr16:70690860-70691010	Caco-2	colon:	n/a	n/a
34	CTCF	chr16:70690760-70690958	K562	blood:	n/a	n/a
35	CTCF	chr16:70690728-70690946	K562	blood:	n/a	n/a
36	CTCF	chr16:70688096-70688158	GM10248	blood:	n/a	n/a
37	CTCF	chr16:70690760-70690910	K562	blood:	n/a	n/a
38	CTCF	chr16:70690987-70691001	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr16:70690840-70690990	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr16:70690740-70690890	HRE	kidney:	n/a	n/a
41	CTCF	chr16:70690754-70691022	MCF-7	breast:	n/a	n/a
42	CTCF	chr16:70690800-70690950	HRE	kidney:	n/a	n/a
43	CTCF	chr16:70688420-70688570	GM06990	blood:	n/a	n/a
44	CTCF	chr16:70690710-70690986	T-47D	breast:	n/a	n/a
45	CTCF	chr16:70687576-70688114	K562	blood:	n/a	chr16:70687789-70687810 chr16:70687794-70687812
46	CTCF	chr16:70690826-70690911	Fibrobl	skin:	n/a	n/a
47	CTCF	chr16:70688160-70688164	GM10248	blood:	n/a	n/a
48	CTCF	chr16:70690743-70691027	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr16:70688220-70688370	NHEK	skin:	n/a	n/a
50	CTCF	chr16:70688078-70688165	Lung_OC	lung:	n/a	n/a

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:70697933-70697983	MCF-7	breast:	n/a
2	chr16:70698831-70698881	IMR90	lung:	fetal
3	chr16:70697933-70697983	MCF-7	breast:	n/a
4	chr16:70698831-70698881	IMR90	lung:	fetal
5	chr16:70697933-70697983	AG10803	skin:	n/a
6	chr16:70696450-70696500	RPTEC	kidney:	n/a
7	chr16:70698146-70698196	Hepatocyte	liver:	n/a
8	chr16:70694508-70694558	NB4	blood:	n/a
9	chr16:70688144-70688194	SK-N-SH_RA	brain:	n/a
10	chr16:70698362-70698412	MCF-7	breast:	n/a
11	chr16:70697712-70697762	HRCEpiC	kidney:	n/a
12	chr16:70694508-70694558	CMK	blood:	n/a
13	chr16:70697933-70697983	AoSMC	blood vessel:	n/a
14	chr16:70688171-70688221	Hela-S3	cervix:	n/a
15	chr16:70697933-70697983	AG09319	gingival:	n/a
16	chr16:70698831-70698881	HUVEC	blood vessel:	n/a
17	chr16:70698053-70698103	NH-A	brain:	n/a
18	chr16:70698146-70698196	AG10803	skin:	n/a
19	chr16:70688171-70688221	ovcar-3	ovarian:	n/a
20	chr16:70688052-70688102	CMK	blood:	n/a
21	chr16:70697933-70697983	BE2_C	brain:	n/a
22	chr16:70698362-70698412	HL-60	blood:	n/a
23	chr16:70688052-70688102	BE2_C	brain:	n/a
24	chr16:70694508-70694558	MCF-7	breast:	n/a
25	chr16:70698053-70698103	H1-hESC	embryonic stem cell:	embryo
26	chr16:70688052-70688102	H1-hESC	embryonic stem cell:	embryo
27	chr16:70698831-70698881	HRE	kidney:	n/a
28	chr16:70688144-70688194	ovcar-3	ovarian:	n/a
29	chr16:70688144-70688194	MCF-7	breast:	n/a
30	chr16:70697712-70697762	PANC-1	pancreas:	n/a
31	chr16:70697712-70697762	AoSMC	blood vessel:	n/a
32	chr16:70694508-70694558	HCF	heart:	n/a
33	chr16:70696450-70696500	HepG2	liver:	n/a
34	chr16:70698362-70698412	Caco-2	colon:	n/a
35	chr16:70688144-70688194	MCF10A-Er-Src	breast:	n/a
36	chr16:70698362-70698412	HCT-116	colon:	n/a
37	chr16:70698146-70698196	SKMC	muscle:	n/a
38	chr16:70688052-70688102	NHBE	bronchial:	n/a
39	chr16:70697933-70697983	HCPEpiC	choroid plexus:	n/a
40	chr16:70697712-70697762	ECC-1	luminal epithelium:	n/a
41	chr16:70697712-70697762	RPTEC	kidney:	n/a
42	chr16:70697933-70697983	HPAEpiC	pulmonary alveolar:	n/a
43	chr16:70698053-70698103	A549	lung:	n/a
44	chr16:70698362-70698412	NT2-D1	testis:	n/a
45	chr16:70696450-70696500	HPAEpiC	pulmonary alveolar:	n/a
46	chr16:70688171-70688221	H1-hESC	embryonic stem cell:	embryo
47	chr16:70698146-70698196	GM06990	blood:	n/a
48	chr16:70694508-70694558	Jurkat	blood:	n/a
49	chr16:70694508-70694558	SK-N-MC	brain:	n/a
50	chr16:70696450-70696500	GM12878	blood:	n/a

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70414237..70416453-chr16:70688010..70689674,2	MCF-7	breast:
2	chr16:70688760..70693483-chr16:70698297..70703877,5	K562	blood:
3	chr16:70697692..70701444-chr16:70709589..70713231,3	MCF-7	breast:
4	chr16:70688085..70692168-chr16:70718317..70721459,4	MCF-7	breast:
5	chr16:70692369..70694552-chr16:70717140..70720083,2	K562	blood:
6	chr16:70408756..70411643-chr16:70690769..70692311,2	MCF-7	breast:
7	chr16:70694540..70696978-chr16:70697055..70699897,3	K562	blood:
8	chr16:70690657..70692376-chr16:70770726..70773209,2	MCF-7	breast:
9	chr16:70690639..70692190-chr16:70786277..70788238,2	MCF-7	breast:
10	chr16:70696392..70698736-chr16:70707157..70709688,2	K562	blood:
11	chr16:70684913..70687861-chr16:70697213..70699784,2	MCF-7	breast:
12	chr16:70690791..70691315-chr16:70804710..70805594,2	K562	blood:
13	chr16:70690486..70692023-chr16:70804289..70805628,11	MCF-7	breast:
14	chr16:70695734..70697501-chr16:70719641..70721197,2	MCF-7	breast:
15	chr16:70695544..70698272-chr16:70698602..70701908,3	K562	blood:
16	chr16:70690090..70691349-chr16:70804345..70805659,18	MCF-7	breast:
17	chr16:70690342..70691295-chr16:70772056..70772920,4	MCF-7	breast:
18	chr16:70611435..70614345-chr16:70688186..70690575,2	K562	blood:
19	chr16:70380612..70382422-chr16:70687697..70689426,2	MCF-7	breast:
20	chr16:70555993..70558227-chr16:70687892..70690787,2	K562	blood:
21	chr16:70688760..70693483-chr16:70698297..70703877,5	K562	blood:
22	chr16:70696022..70698192-chr16:70722301..70724411,2	K562	blood:
23	chr16:70696273..70698842-chr16:70700749..70702411,2	MCF-7	breast:
24	chr16:70691222..70695511-chr16:70695866..70699459,4	MCF-7	breast:
25	chr16:70690821..70691363-chr16:70772002..70772898,2	MCF-7	breast:
26	chr16:70694604..70697183-chr16:70727406..70729893,2	K562	blood:
27	chr16:70693052..70694903-chr16:70718583..70720776,2	K562	blood:
28	chr16:70696838..70699602-chr16:70778783..70781663,2	MCF-7	breast:
29	chr16:70680910..70683567-chr16:70688856..70691172,2	K562	blood:
30	chr16:70301218..70302071-chr16:70687403..70688222,2	K562	blood:
31	chr16:70557404..70559020-chr16:70695143..70697780,2	MCF-7	breast:
32	chr16:70679648..70683567-chr16:70688197..70691172,3	K562	blood:
33	chr16:70691222..70695511-chr16:70695866..70699459,4	MCF-7	breast:
34	chr16:70700082..70702033-chr16:70779098..70781687,2	MCF-7	breast:
35	chr16:70696392..70700109-chr16:70707157..70709688,3	K562	blood:
36	chr16:70699407..70701314-chr16:70720329..70722044,2	MCF-7	breast:
37	chr16:70562984..70563958-chr16:70687542..70688242,3	MCF-7	breast:
38	chr16:70562753..70563960-chr16:70687318..70688116,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SF3B3-2	chr16:70690866-70691260	NONHSAT143438
2	lnc-MTSS1L-1	chr16:70695093-70695583	NONHSAT143439
3	lnc-SF3B3-2	chr16:70690505-70690582	NONHSAT143438

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	MTSS1L	hsa-miR-186-5p	chr16:70695404-70695428
2	MTSS1L	hsa-miR-101-3p	chr16:70695114-70695139
3	MTSS1L	hsa-miR-93-5p	chr16:70697456-70697450
4	MTSS1L	hsa-miR-101-3p	chr16:70695120-70695113
5	MTSS1L	hsa-miR-186-5p	chr16:70695410-70695404

Variant related genes	Relation type
ENSG00000268927	TF binding region
ENSG00000268927	CpG island
ENSG00000261777	chromatin interactions
ENSG00000260156	chromatin interactions
ENSG00000132613	chromatin interactions
ENSG00000221514	chromatin interactions
ENSG00000157368	chromatin interactions
ENSG00000103043	chromatin interactions
ENSG00000268927	chromatin interactions
ENSG00000090861	chromatin interactions
ENSG00000103051	chromatin interactions
ENSG00000189091	chromatin interactions
ENSG00000168872	chromatin interactions

Extended variants
information (count: 833 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:833 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs713500	chr16:70688073-70688074	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs138127632	chr16:70688085-70688086	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs577884613	chr16:70688089-70688090	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs61077008	chr16:70688104-70688105	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs568144062	chr16:70688112-70688113	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs149557040	chr16:70688142-70688143	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs553522911	chr16:70688161-70688162	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs573280667	chr16:70688164-70688165	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs535767005	chr16:70688171-70688172	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs545108168	chr16:70688186-70688187	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs397855692	chr16:70688190-70688191	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs367998289	chr16:70688220-70688221	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs563337610	chr16:70688295-70688296	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs55704776	chr16:70688303-70688304	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs146435337	chr16:70688318-70688319	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs713499	chr16:70688340-70688341	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs528773202	chr16:70688368-70688369	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs546926661	chr16:70688377-70688378	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs368927969	chr16:70688427-70688428	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs375928624	chr16:70688428-70688429	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs113395524	chr16:70688437-70688438	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs139133476	chr16:70688459-70688460	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs142890682	chr16:70688461-70688462	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs536254383	chr16:70688502-70688503	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs554531579	chr16:70688526-70688527	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs573898226	chr16:70688535-70688536	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs143111548	chr16:70688560-70688561	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs552925445	chr16:70688568-70688569	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs370493911	chr16:70688591-70688592	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs373066182	chr16:70688608-70688609	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs577783463	chr16:70688609-70688610	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs377345866	chr16:70688611-70688612	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs202166399	chr16:70688617-70688618	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs563376222	chr16:70688639-70688640	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs530580926	chr16:70688652-70688653	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs542686087	chr16:70688672-70688673	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs560937070	chr16:70688683-70688684	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs368272330	chr16:70688685-70688686	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs556969963	chr16:70688686-70688687	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs571816137	chr16:70688713-70688714	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs532591903	chr16:70688717-70688718	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs371867286	chr16:70688725-70688726	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs550718498	chr16:70688728-70688729	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs569047636	chr16:70688731-70688732	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs536342335	chr16:70688758-70688759	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs548319176	chr16:70688767-70688768	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs566841110	chr16:70688785-70688786	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs187924437	chr16:70688786-70688787	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs553253594	chr16:70688800-70688801	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs147498667	chr16:70688849-70688850	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	21909424	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:517 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70683600-70697200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:70683600-70698600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:70684200-70697400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:70685600-70688200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:70685600-70688200	Weak transcription	Esophagus	oesophagus
6	chr16:70685600-70693600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr16:70687400-70688400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:70687400-70688400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:70687400-70688600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr16:70687600-70688200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr16:70687600-70688200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr16:70687600-70688400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr16:70687600-70688400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr16:70687600-70688400	Enhancers	Fetal Heart	heart
15	chr16:70687600-70688400	Enhancers	Stomach Mucosa	stomach
16	chr16:70687800-70688200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr16:70687800-70688200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:70687800-70688200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr16:70687800-70688200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr16:70687800-70688200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr16:70687800-70688200	Enhancers	Primary B cells from peripheral blood	blood
22	chr16:70687800-70688200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr16:70687800-70688200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr16:70687800-70688200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr16:70687800-70688200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr16:70687800-70688200	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr16:70687800-70688200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr16:70687800-70688200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr16:70687800-70688200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:70687800-70688200	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr16:70687800-70688200	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr16:70687800-70688200	Active TSS	Colonic Mucosa	Colon
33	chr16:70687800-70688200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr16:70687800-70688200	Flanking Active TSS	Fetal Intestine Large	intestine
35	chr16:70687800-70688200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
36	chr16:70687800-70688200	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr16:70687800-70688200	Flanking Active TSS	Fetal Lung	lung
38	chr16:70687800-70688200	Flanking Active TSS	Fetal Muscle Trunk	muscle
39	chr16:70687800-70688200	Flanking Active TSS	Fetal Stomach	stomach
40	chr16:70687800-70688200	Flanking Active TSS	Pancreas	Pancrea
41	chr16:70687800-70688200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr16:70687800-70688200	Active TSS	Rectal Smooth Muscle	rectum
43	chr16:70687800-70688200	Active TSS	Right Atrium	heart
44	chr16:70687800-70688200	Active TSS	Thymus	Thymus
45	chr16:70687800-70688200	Flanking Active TSS	HepG2	liver
46	chr16:70687800-70688200	Flanking Active TSS	HMEC	breast
47	chr16:70687800-70688200	Flanking Active TSS	HUVEC	blood vessel
48	chr16:70687800-70688200	Flanking Active TSS	NH-A	brain
49	chr16:70687800-70688200	Active TSS	NHDF-Ad	bronchial
50	chr16:70687800-70688200	Flanking Active TSS	NHEK	skin

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