Variant report

Variant	nsv1059598
Chromosome Location	chr16:46721805-46762219
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1221)
CpG islands
(count:1099)
Chromatin interactive
region (count:47)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1221 , 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	chr16:46724802-46724977	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:46723286-46723437	HepG2	liver:	n/a	n/a
3	ATF1	chr16:46722183-46722444	K562	blood:	n/a	n/a
4	ATF2	chr16:46722080-46722641	GM12878	blood:	n/a	n/a
5	ATF3	chr16:46722850-46723393	HepG2	liver:	n/a	chr16:46723144-46723153 chr16:46723102-46723111
6	ATF3	chr16:46722919-46723192	K562	blood:	n/a	chr16:46723144-46723153 chr16:46723102-46723111
7	BACH1	chr16:46722530-46722978	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr16:46723562-46723604	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCLAF1	chr16:46723413-46724657	GM12878	blood:	n/a	chr16:46723771-46723780
10	BCLAF1	chr16:46722382-46723167	GM12878	blood:	n/a	chr16:46723144-46723157
11	BHLHE40	chr16:46724848-46725107	HepG2	liver:	n/a	n/a
12	BHLHE40	chr16:46722292-46722408	GM12878	blood:	n/a	n/a
13	BHLHE40	chr16:46722644-46723649	GM12878	blood:	n/a	chr16:46723536-46723552 chr16:46723072-46723088
14	BHLHE40	chr16:46722436-46723601	K562	blood:	n/a	chr16:46723536-46723552 chr16:46723072-46723088
15	BHLHE40	chr16:46724868-46725048	K562	blood:	n/a	n/a
16	BHLHE40	chr16:46723952-46724113	K562	blood:	n/a	n/a
17	BHLHE40	chr16:46722889-46723497	HepG2	liver:	n/a	chr16:46723072-46723088
18	BRCA1	chr16:46722970-46723593	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr16:46723113-46723343	H1-hESC	embryonic stem cell:	n/a	n/a
20	BRCA1	chr16:46723188-46723270	HepG2	liver:	n/a	n/a
21	BRCA1	chr16:46722507-46722707	Hela-S3	cervix:	n/a	n/a
22	CBX3	chr16:46722218-46722764	K562	blood:	n/a	n/a
23	CBX3	chr16:46749087-46749498	K562	blood:	n/a	n/a
24	CBX3	chr16:46723892-46724289	K562	blood:	n/a	n/a
25	CCNT2	chr16:46722420-46723811	K562	blood:	n/a	chr16:46723519-46723528 chr16:46723144-46723153
26	CEBPB	chr16:46722610-46722660	HepG2	liver:	n/a	n/a
27	CEBPB	chr16:46745063-46745615	HepG2	liver:	n/a	n/a
28	CEBPB	chr16:46745116-46745602	HepG2	liver:	n/a	n/a
29	CEBPB	chr16:46725617-46725793	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr16:46745178-46745557	IMR90	lung:	n/a	n/a
31	CEBPB	chr16:46723938-46724241	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr16:46725618-46725782	HepG2	liver:	n/a	n/a
33	CEBPB	chr16:46745148-46745275	K562	blood:	n/a	n/a
34	CEBPB	chr16:46722499-46722692	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr16:46745123-46745342	HepG2	liver:	n/a	n/a
36	CEBPB	chr16:46745374-46745551	HepG2	liver:	n/a	n/a
37	CEBPB	chr16:46724695-46725030	HepG2	liver:	n/a	n/a
38	CEBPB	chr16:46722429-46723652	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr16:46722620-46722638	K562	blood:	n/a	n/a
40	CEBPB	chr16:46745054-46745636	HepG2	liver:	n/a	n/a
41	CEBPD	chr16:46745118-46745356	HepG2	liver:	n/a	n/a
42	CEBPD	chr16:46722759-46723460	HepG2	liver:	n/a	n/a
43	CEBPD	chr16:46723464-46723833	HepG2	liver:	n/a	n/a
44	CHD1	chr16:46723893-46724273	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD1	chr16:46723980-46724150	GM12878	blood:	n/a	n/a
46	CHD2	chr16:46722972-46723686	HepG2	liver:	n/a	n/a
47	CHD2	chr16:46722440-46722682	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr16:46722982-46723709	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr16:46722309-46722408	GM12878	blood:	n/a	n/a
50	CHD2	chr16:46723945-46724152	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1099 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:46723088-46723138	PANC-1	pancreas:	n/a
2	chr16:46723088-46723138	PANC-1	pancreas:	n/a
3	chr16:46723166-46723216	GM06990	blood:	n/a
4	chr16:46739767-46739817	ECC-1	luminal epithelium:	n/a
5	chr16:46723518-46723568	HPAEpiC	pulmonary alveolar:	n/a
6	chr16:46723426-46723476	HRCEpiC	kidney:	n/a
7	chr16:46724037-46724087	U87	brain:	n/a
8	chr16:46728312-46728362	HRE	kidney:	n/a
9	chr16:46723088-46723138	HCF	heart:	n/a
10	chr16:46722505-46722555	SK-N-SH	brain:	n/a
11	chr16:46723432-46723482	ECC-1	luminal epithelium:	n/a
12	chr16:46728312-46728362	A549	lung:	n/a
13	chr16:46723426-46723476	SK-N-MC	brain:	n/a
14	chr16:46723204-46723254	HRPEpiC	eye:	n/a
15	chr16:46723545-46723595	HCF	heart:	n/a
16	chr16:46724037-46724087	HepG2	liver:	n/a
17	chr16:46723518-46723568	ECC-1	luminal epithelium:	n/a
18	chr16:46723166-46723216	BE2_C	brain:	n/a
19	chr16:46723204-46723254	PFSK-1	brain:	n/a
20	chr16:46728312-46728362	HMEC	breast:	n/a
21	chr16:46723426-46723476	SK-N-SH	brain:	n/a
22	chr16:46723432-46723482	HCM	heart:	n/a
23	chr16:46722642-46722692	BJ	skin:	n/a
24	chr16:46728312-46728362	HepG2	liver:	n/a
25	chr16:46723204-46723254	SKMC	muscle:	n/a
26	chr16:46723420-46723470	Hela-S3	cervix:	n/a
27	chr16:46723204-46723254	AG09319	gingival:	n/a
28	chr16:46723204-46723254	HEEpiC	esophagus:	n/a
29	chr16:46722505-46722555	SK-N-SH_RA	brain:	n/a
30	chr16:46723153-46723203	HEK293	kidney:	embryo
31	chr16:46722505-46722555	PFSK-1	brain:	n/a
32	chr16:46723426-46723476	ECC-1	luminal epithelium:	n/a
33	chr16:46723545-46723595	HUVEC	blood vessel:	n/a
34	chr16:46722505-46722555	SK-N-MC	brain:	n/a
35	chr16:46723432-46723482	LNCaP	prostate:	n/a
36	chr16:46724152-46724202	NHDF-neo	bronchial:	n/a
37	chr16:46723048-46723098	NH-A	brain:	n/a
38	chr16:46723048-46723098	NB4	blood:	n/a
39	chr16:46739767-46739817	Hepatocyte	liver:	n/a
40	chr16:46723518-46723568	NHDF-neo	bronchial:	n/a
41	chr16:46723420-46723470	HPAEpiC	pulmonary alveolar:	n/a
42	chr16:46723048-46723098	GM19239	blood:	n/a
43	chr16:46722505-46722555	AG09319	gingival:	n/a
44	chr16:46724037-46724087	HEK293	kidney:	embryo
45	chr16:46724096-46724146	Hepatocyte	liver:	n/a
46	chr16:46722505-46722555	HRCEpiC	kidney:	n/a
47	chr16:46724096-46724146	HCT-116	colon:	n/a
48	chr16:46726887-46726937	HRPEpiC	eye:	n/a
49	chr16:46723048-46723098	HEK293	kidney:	embryo
50	chr16:46723426-46723476	HUVEC	blood vessel:	n/a

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50135161..50135689-chr16:46722187..46722768,2	Hela-S3	cervix:
2	chr16:46762010..46763815-chr16:46766951..46768870,2	K562	blood:
3	chr16:46731723..46733835-chr16:46735349..46737949,2	K562	blood:
4	chr16:46707772..46709754-chr16:46720793..46723011,2	MCF-7	breast:
5	chr16:46734124..46735947-chr16:46738836..46740756,2	K562	blood:
6	chr1:153935466..153936188-chr16:46723180..46724080,2	Hela-S3	cervix:
7	chr16:46723042..46725138-chr16:46863743..46865908,3	MCF-7	breast:
8	chr15:50646591..50647385-chr16:46723275..46723855,2	Hela-S3	cervix:
9	chr16:46732778..46734710-chr16:46734762..46736460,2	K562	blood:
10	chr16:46741908..46744593-chr16:46750303..46752897,2	MCF-7	breast:
11	chr16:46732635..46735109-chr16:46739940..46743405,3	K562	blood:
12	chr1:180123484..180124292-chr16:46722902..46723601,2	HCT-116	colon:
13	chr16:46681844..46684169-chr16:46721518..46723822,2	K562	blood:
14	chr16:46721630..46725552-chr16:46779076..46784170,6	K562	blood:
15	chr16:46723417..46723944-chr17:74733002..74733817,2	Hela-S3	cervix:
16	chr16:46721087..46725989-chr16:46862740..46865236,7	K562	blood:
17	chr16:46723399..46726142-chr16:46727594..46729309,2	MCF-7	breast:
18	chr16:46722783..46723664-chr19:49990885..49991440,2	Hela-S3	cervix:
19	chr16:46732635..46735109-chr16:46739940..46743405,3	K562	blood:
20	chr16:46720929..46723857-chr16:46796007..46798416,2	MCF-7	breast:
21	chr16:46732778..46734710-chr16:46734762..46736460,2	K562	blood:
22	chr16:46753459..46755694-chr16:46775212..46777061,2	K562	blood:
23	chr16:46722609..46724172-chr16:46751390..46753908,2	MCF-7	breast:
24	chr16:46729513..46731801-chr16:46734128..46737979,3	K562	blood:
25	chr16:46721631..46724836-chr16:46779909..46784170,7	K562	blood:
26	chr16:46715468..46717180-chr16:46722050..46724165,2	MCF-7	breast:
27	chr16:46713745..46716784-chr16:46720254..46722290,4	K562	blood:
28	chr16:46721417..46725620-chr16:46861860..46865482,8	K562	blood:
29	chr16:46653721..46656886-chr16:46721851..46724551,4	K562	blood:
30	chr16:46722901..46723856-chr5:108083974..108084613,2	Hela-S3	cervix:
31	chr1:173836705..173837651-chr16:46723495..46724172,2	Hela-S3	cervix:
32	chr16:46723658..46727681-chr16:46823795..46826359,3	K562	blood:
33	chr16:46723293..46723894-chr6:26020511..26021178,2	Hela-S3	cervix:
34	chr16:46722548..46723423-chr16:87425505..87426277,2	Hela-S3	cervix:
35	chr16:46723531..46724116-chr22:30233901..30234633,2	Hela-S3	cervix:
36	chr16:46723133..46724018-chr9:139440419..139440966,2	NB4	blood:
37	chr16:46723337..46723856-chr16:67312562..67313464,2	Hela-S3	cervix:
38	chr16:46711146..46713693-chr16:46721499..46723929,2	K562	blood:
39	chr16:46723399..46726142-chr16:46727594..46729309,2	MCF-7	breast:
40	chr16:46713745..46716784-chr16:46720254..46722290,3	K562	blood:
41	chr16:46723503..46724070-chr7:112090386..112091066,2	Hela-S3	cervix:
42	chr1:75198609..75199364-chr16:46723157..46724066,2	Hela-S3	cervix:
43	chr16:46746554..46747352-chr17:77807630..77808493,2	MCF-7	breast:
44	chr1:210547382..210548026-chr16:46722608..46723579,2	Hela-S3	cervix:
45	chr16:46734124..46735947-chr16:46738836..46740756,2	K562	blood:
46	chr16:46729440..46732206-chr16:46768844..46771531,2	K562	blood:
47	chr16:46741908..46744593-chr16:46750303..46752897,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYLK3-1	chr16:46737281-46737937	ENSG00000261788.1

No data

Variant related genes	Relation type
VPS35	TF binding region
MYLK3	TF binding region
ORC6	TF binding region
ENSG00000261788	TF binding region
VPS35	CpG island
MYLK3	CpG island
ORC6	CpG island
ENSG00000261788	CpG island
ENSG00000261788	chromatin interactions
ENSG00000200972	chromatin interactions
ENSG00000260909	chromatin interactions
ENSG00000006652	chromatin interactions
ENSG00000103264	chromatin interactions
ENSG00000091651	chromatin interactions
ENSG00000234741	chromatin interactions
ENSG00000139644	chromatin interactions
ENSG00000069329	chromatin interactions
ENSG00000260782	chromatin interactions
ENSG00000116260	chromatin interactions
ENSG00000265181	chromatin interactions
ENSG00000100325	chromatin interactions
ENSG00000142541	chromatin interactions
ENSG00000092931	chromatin interactions
ENSG00000185278	chromatin interactions
ENSG00000151422	chromatin interactions
ENSG00000161547	chromatin interactions
ENSG00000155330	chromatin interactions
ENSG00000237886	chromatin interactions
ENSG00000116791	chromatin interactions
ENSG00000171241	chromatin interactions
ENSG00000198366	chromatin interactions
ENSG00000162623	chromatin interactions
ENSG00000140795	chromatin interactions
ENSG00000104064	chromatin interactions
ENSG00000143570	chromatin interactions
ENSG00000196155	chromatin interactions
ENSG00000140941	chromatin interactions

Extended variants
information (count: 1376 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1376 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564299632	chr16:46721833-46721834	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs531417820	chr16:46721884-46721885	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs549859217	chr16:46721947-46721948	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs374884182	chr16:46722022-46722023	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs369014604	chr16:46722037-46722038	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs74918457	chr16:46722079-46722080	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs547398394	chr16:46722115-46722116	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs540778868	chr16:46722131-46722132	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs565566874	chr16:46722133-46722134	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs534501389	chr16:46722135-46722136	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs559027182	chr16:46722154-46722155	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs570983174	chr16:46722169-46722170	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs74320950	chr16:46722181-46722182	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs371204054	chr16:46722203-46722204	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs373500346	chr16:46722278-46722279	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs367828156	chr16:46722284-46722285	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs377291762	chr16:46722312-46722313	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs556211504	chr16:46722317-46722318	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs373624141	chr16:46722320-46722321	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs561843305	chr16:46722324-46722325	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs117389817	chr16:46722344-46722345	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs550660542	chr16:46722357-46722358	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs554135407	chr16:46722417-46722418	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs147243765	chr16:46722464-46722465	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs546040656	chr16:46722473-46722474	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs140762726	chr16:46722485-46722486	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs576161528	chr16:46722495-46722496	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs185298087	chr16:46722507-46722508	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs561896046	chr16:46722520-46722521	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs190210064	chr16:46722559-46722560	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs547559567	chr16:46722579-46722580	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs144622564	chr16:46722594-46722595	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs551083977	chr16:46722673-46722674	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs532797701	chr16:46722706-46722707	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs117884892	chr16:46722740-46722741	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs571079336	chr16:46722742-46722743	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs538181707	chr16:46722762-46722763	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs147207677	chr16:46722771-46722772	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs568362832	chr16:46722804-46722805	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs535545021	chr16:46722837-46722838	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs553986609	chr16:46722851-46722852	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs572359965	chr16:46722852-46722853	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs539474321	chr16:46722917-46722918	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs555565705	chr16:46722918-46722919	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs557999797	chr16:46722935-46722936	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs576387367	chr16:46722938-46722939	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs543764837	chr16:46722986-46722987	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs370034762	chr16:46723014-46723015	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs186169135	chr16:46723019-46723020	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs573920049	chr16:46723064-46723065	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:897 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46702600-46722200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:46705800-46722200	Weak transcription	Aorta	Aorta
3	chr16:46717800-46722000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr16:46718200-46722200	Weak transcription	Small Intestine	intestine
5	chr16:46719400-46722000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr16:46720000-46724200	Active TSS	Fetal Intestine Large	intestine
7	chr16:46720400-46722200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr16:46720400-46722200	Flanking Active TSS	Dnd41	blood
9	chr16:46720600-46722000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr16:46720600-46722000	Flanking Active TSS	K562	blood
11	chr16:46720600-46722000	Flanking Active TSS	NHEK	skin
12	chr16:46720600-46722200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr16:46720600-46722200	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr16:46720600-46722200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr16:46720600-46722200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr16:46720600-46724200	Active TSS	Fetal Intestine Small	intestine
17	chr16:46720800-46722000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr16:46720800-46722000	Enhancers	Primary B cells from peripheral blood	blood
19	chr16:46720800-46722000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr16:46720800-46722000	Flanking Active TSS	Brain Anterior Caudate	brain
21	chr16:46720800-46722200	Flanking Active TSS	Fetal Brain Male	brain
22	chr16:46721000-46722000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr16:46721000-46722200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr16:46721000-46722400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr16:46721000-46724800	Active TSS	NHDF-Ad	bronchial
26	chr16:46721000-46725000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr16:46721200-46722000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr16:46721200-46722000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr16:46721200-46722000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr16:46721200-46722000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr16:46721200-46722000	Flanking Active TSS	Fetal Stomach	stomach
32	chr16:46721200-46722000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr16:46721200-46722200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr16:46721200-46722200	Flanking Active TSS	Fetal Brain Female	brain
35	chr16:46721200-46722200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr16:46721200-46722400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:46721200-46722400	Flanking Active TSS	HUVEC	blood vessel
38	chr16:46721200-46722600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr16:46721200-46722600	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr16:46721200-46724600	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr16:46721200-46725000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr16:46721200-46725600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr16:46721400-46722000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr16:46721400-46722000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr16:46721400-46722000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr16:46721400-46722000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr16:46721400-46722000	Enhancers	Primary T cells fromperipheralblood	blood
48	chr16:46721400-46722000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr16:46721400-46722000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr16:46721400-46722000	Flanking Active TSS	Brain Cingulate Gyrus	brain

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