Variant report

Variant	nsv1067144
Chromosome Location	chr16:81129298-81181641
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1003)
CpG islands
(count:858)
Chromatin interactive
region (count:70)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1003 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:81130145-81130435	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:81156626-81157063	HepG2	liver:	n/a	n/a
3	ATF1	chr16:81156756-81157044	K562	blood:	n/a	n/a
4	ATF1	chr16:81131370-81131588	K562	blood:	n/a	n/a
5	ATF1	chr16:81130024-81130677	K562	blood:	n/a	n/a
6	BACH1	chr16:81174746-81175382	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr16:81175001-81175341	K562	blood:	n/a	n/a
8	BATF	chr16:81168205-81168486	GM12878	blood:	n/a	n/a
9	BCL11A	chr16:81168284-81168501	GM12878	blood:	n/a	n/a
10	BCL3	chr16:81143404-81143722	GM12878	blood:	n/a	n/a
11	BHLHE40	chr16:81170170-81170518	HepG2	liver:	n/a	chr16:81170312-81170321
12	BHLHE40	chr16:81129357-81130537	K562	blood:	n/a	n/a
13	BHLHE40	chr16:81129544-81129723	GM12878	blood:	n/a	n/a
14	BHLHE40	chr16:81129468-81129903	HepG2	liver:	n/a	n/a
15	BHLHE40	chr16:81170261-81170322	K562	blood:	n/a	chr16:81170312-81170321
16	BHLHE40	chr16:81163135-81163164	K562	blood:	n/a	n/a
17	BHLHE40	chr16:81154295-81154311	HepG2	liver:	n/a	n/a
18	BRCA1	chr16:81129987-81130524	Hela-S3	cervix:	n/a	n/a
19	CBX3	chr16:81177278-81178302	HCT-116	colon:	n/a	n/a
20	CBX3	chr16:81174969-81175313	K562	blood:	n/a	n/a
21	CBX3	chr16:81177298-81178299	HCT-116	colon:	n/a	n/a
22	CBX3	chr16:81129843-81131209	K562	blood:	n/a	n/a
23	CCNT2	chr16:81129369-81130530	K562	blood:	n/a	chr16:81130250-81130259
24	CEBPB	chr16:81129446-81129564	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr16:81177379-81178318	MCF-7	breast:	n/a	n/a
26	CEBPB	chr16:81177354-81178428	HCT-116	colon:	n/a	n/a
27	CEBPB	chr16:81156789-81156940	IMR90	lung:	n/a	chr16:81156850-81156863 chr16:81156851-81156862
28	CEBPB	chr16:81160709-81161083	IMR90	lung:	n/a	n/a
29	CEBPB	chr16:81177444-81178184	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr16:81139677-81139998	MCF-7	breast:	n/a	n/a
31	CEBPB	chr16:81157290-81157471	K562	blood:	n/a	n/a
32	CEBPB	chr16:81177423-81178286	MCF-7	breast:	n/a	n/a
33	CEBPB	chr16:81129346-81129562	HepG2	liver:	n/a	n/a
34	CEBPB	chr16:81156627-81157144	HepG2	liver:	n/a	chr16:81156850-81156863 chr16:81156953-81156966 chr16:81156952-81156969 chr16:81156953-81156964 chr16:81156851-81156862 chr16:81156953-81156964
35	CEBPB	chr16:81136733-81136996	HepG2	liver:	n/a	chr16:81136860-81136871
36	CEBPB	chr16:81156672-81157057	HepG2	liver:	n/a	chr16:81156850-81156863 chr16:81156953-81156966 chr16:81156952-81156969 chr16:81156953-81156964 chr16:81156851-81156862 chr16:81156953-81156964
37	CEBPB	chr16:81175038-81175238	HepG2	liver:	n/a	n/a
38	CEBPB	chr16:81179993-81180304	HepG2	liver:	n/a	n/a
39	CEBPB	chr16:81154307-81154509	K562	blood:	n/a	chr16:81154459-81154472
40	CEBPB	chr16:81180062-81180209	HepG2	liver:	n/a	n/a
41	CEBPB	chr16:81156622-81157149	HepG2	liver:	n/a	chr16:81156850-81156863 chr16:81156953-81156966 chr16:81156952-81156969 chr16:81156953-81156964 chr16:81156851-81156862 chr16:81156953-81156964
42	CEBPB	chr16:81130049-81130507	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr16:81156720-81157074	HepG2	liver:	n/a	chr16:81156850-81156863 chr16:81156953-81156966 chr16:81156952-81156969 chr16:81156953-81156964 chr16:81156851-81156862 chr16:81156953-81156964
44	CEBPB	chr16:81175032-81175221	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr16:81156711-81157026	A549	lung:	n/a	chr16:81156850-81156863 chr16:81156953-81156966 chr16:81156952-81156969 chr16:81156953-81156964 chr16:81156851-81156862 chr16:81156953-81156964
46	CEBPB	chr16:81177405-81178293	HCT-116	colon:	n/a	n/a
47	CEBPB	chr16:81156769-81157052	K562	blood:	n/a	chr16:81156850-81156863 chr16:81156953-81156966 chr16:81156952-81156969 chr16:81156953-81156964 chr16:81156851-81156862 chr16:81156953-81156964
48	CEBPB	chr16:81172505-81172638	K562	blood:	n/a	n/a
49	CEBPB	chr16:81156771-81157019	Hela-S3	cervix:	n/a	chr16:81156850-81156863 chr16:81156953-81156966 chr16:81156952-81156969 chr16:81156953-81156964 chr16:81156851-81156862 chr16:81156953-81156964
50	CEBPB	chr16:81130204-81130392	HepG2	liver:	n/a	n/a

(count:858 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:81129369-81129419	AG04449	skin:	fetal
2	chr16:81130346-81130396	RPTEC	kidney:	n/a
3	chr16:81130036-81130086	HRE	kidney:	n/a
4	chr16:81129991-81130041	GM19239	blood:	n/a
5	chr16:81129369-81129419	AG04449	skin:	fetal
6	chr16:81130346-81130396	RPTEC	kidney:	n/a
7	chr16:81130036-81130086	HRE	kidney:	n/a
8	chr16:81129991-81130041	GM19239	blood:	n/a
9	chr16:81130212-81130262	AoSMC	blood vessel:	n/a
10	chr16:81129369-81129419	GM12892	blood:	n/a
11	chr16:81130036-81130086	HCF	heart:	n/a
12	chr16:81129997-81130047	HL-60	blood:	n/a
13	chr16:81129318-81129368	Hepatocyte	liver:	n/a
14	chr16:81130212-81130262	SKMC	muscle:	n/a
15	chr16:81129318-81129368	GM12891	blood:	n/a
16	chr16:81134712-81134762	NT2-D1	testis:	n/a
17	chr16:81129991-81130041	HNPCEpiC	eye:	n/a
18	chr16:81130346-81130396	HCF	heart:	n/a
19	chr16:81134712-81134762	RPTEC	kidney:	n/a
20	chr16:81134712-81134762	MCF10A-Er-Src	breast:	n/a
21	chr16:81130092-81130142	RPTEC	kidney:	n/a
22	chr16:81130212-81130262	HRCEpiC	kidney:	n/a
23	chr16:81129997-81130047	HCM	heart:	n/a
24	chr16:81129991-81130041	K562	blood:	n/a
25	chr16:81130092-81130142	SAEC	small airway:	n/a
26	chr16:81130217-81130267	HNPCEpiC	eye:	n/a
27	chr16:81130346-81130396	ovcar-3	ovarian:	n/a
28	chr16:81130375-81130425	ovcar-3	ovarian:	n/a
29	chr16:81170527-81170577	BE2_C	brain:	n/a
30	chr16:81132798-81132848	ECC-1	luminal epithelium:	n/a
31	chr16:81129318-81129368	GM06990	blood:	n/a
32	chr16:81129997-81130047	HCF	heart:	n/a
33	chr16:81130036-81130086	PANC-1	pancreas:	n/a
34	chr16:81134712-81134762	HRPEpiC	eye:	n/a
35	chr16:81129369-81129419	T-47D	breast:	n/a
36	chr16:81129997-81130047	GM12891	blood:	n/a
37	chr16:81129991-81130041	HCPEpiC	choroid plexus:	n/a
38	chr16:81134712-81134762	HEEpiC	esophagus:	n/a
39	chr16:81129318-81129368	NHDF-neo	bronchial:	n/a
40	chr16:81129997-81130047	MCF-7	breast:	n/a
41	chr16:81130346-81130396	HRE	kidney:	n/a
42	chr16:81134712-81134762	K562	blood:	n/a
43	chr16:81130036-81130086	H1-hESC	embryonic stem cell:	embryo
44	chr16:81170527-81170577	HCPEpiC	choroid plexus:	n/a
45	chr16:81130212-81130262	HEEpiC	esophagus:	n/a
46	chr16:81130346-81130396	Caco-2	colon:	n/a
47	chr16:81130375-81130425	SK-N-MC	brain:	n/a
48	chr16:81130036-81130086	BJ	skin:	n/a
49	chr16:81129318-81129368	NH-A	brain:	n/a
50	chr16:81130346-81130396	HMEC	breast:	n/a

(count:70 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:81110384..81110935-chr16:81169785..81170782,2	MCF-7	breast:
2	chr16:81149124..81150808-chr16:81152583..81155563,2	MCF-7	breast:
3	chr16:81133047..81135189-chr16:81140404..81142805,2	MCF-7	breast:
4	chr16:81163789..81165490-chr16:81205338..81207838,2	MCF-7	breast:
5	chr16:81167266..81170181-chr16:81212814..81215037,2	MCF-7	breast:
6	chr16:81068581..81070765-chr16:81177689..81179201,2	MCF-7	breast:
7	chr16:81068843..81069464-chr16:81129450..81130206,2	MCF-7	breast:
8	chr16:81129115..81131910-chr16:81152675..81155542,2	K562	blood:
9	chr16:81144581..81147078-chr16:81149239..81150751,2	K562	blood:
10	chr16:81068545..81070466-chr16:81128738..81130368,2	K562	blood:
11	chr16:81068173..81071730-chr16:81126382..81131671,6	MCF-7	breast:
12	chr16:81144641..81147078-chr16:81149251..81151936,2	K562	blood:
13	chr16:81049357..81051775-chr16:81129457..81132672,3	K562	blood:
14	chr16:81160768..81163700-chr16:81169451..81173770,5	MCF-7	breast:
15	chr16:81159689..81161686-chr16:81165248..81167111,2	MCF-7	breast:
16	chr16:81038922..81040878-chr16:81128552..81130305,2	MCF-7	breast:
17	chr16:81172499..81173473-chr16:81231950..81233302,5	MCF-7	breast:
18	chr16:81066967..81071215-chr16:81128766..81132498,3	MCF-7	breast:
19	chr16:81177157..81179228-chr16:81223964..81225695,2	MCF-7	breast:
20	chr16:81123255..81125056-chr16:81127455..81129707,2	MCF-7	breast:
21	chr16:81159689..81161686-chr16:81165248..81167111,2	MCF-7	breast:
22	chr16:71843029..71844532-chr16:81169189..81171698,2	MCF-7	breast:
23	chr16:81128119..81130536-chr16:81138830..81141315,2	K562	blood:
24	chr16:81168888..81171592-chr16:81175504..81177098,2	MCF-7	breast:
25	chr16:81038650..81041598-chr16:81130102..81132270,2	K562	blood:
26	chr16:81152674..81158113-chr16:81158859..81162763,5	K562	blood:
27	chr16:81128511..81130849-chr16:81169835..81172966,4	MCF-7	breast:
28	chr16:81049357..81051527-chr16:81129457..81131471,2	K562	blood:
29	chr16:81130019..81131773-chr16:81135530..81138449,2	K562	blood:
30	chr16:81130019..81131773-chr16:81135530..81138449,2	K562	blood:
31	chr16:81176050..81179014-chr16:81206703..81209353,3	MCF-7	breast:
32	chr16:81174893..81175517-chr16:81231737..81232731,3	MCF-7	breast:
33	chr16:81062101..81064821-chr16:81128185..81130104,2	MCF-7	breast:
34	chr16:81128119..81130536-chr16:81138830..81141315,2	K562	blood:
35	chr16:81177178..81179005-chr16:81180841..81182912,2	MCF-7	breast:
36	chr16:81109098..81111564-chr16:81131905..81134616,2	K562	blood:
37	chr16:81109109..81111856-chr16:81126620..81130593,5	MCF-7	breast:
38	chr16:81109242..81112738-chr16:81125910..81131139,12	MCF-7	breast:
39	chr16:81152674..81158113-chr16:81158859..81162763,5	K562	blood:
40	chr16:81155345..81157687-chr16:81159354..81162522,3	MCF-7	breast:
41	chr16:81172576..81173403-chr16:81248138..81248840,3	MCF-7	breast:
42	chr16:81078751..81080848-chr16:81181095..81182686,2	K562	blood:
43	chr16:81165301..81167307-chr16:81169163..81170985,2	MCF-7	breast:
44	chr16:81128667..81130773-chr16:81131741..81134300,2	MCF-7	breast:
45	chr16:81160894..81162615-chr16:81168602..81170831,2	MCF-7	breast:
46	chr16:81133429..81135383-chr16:81162672..81165434,2	K562	blood:
47	chr16:81128511..81130849-chr16:81169835..81172966,4	MCF-7	breast:
48	chr16:81131183..81132698-chr16:81137237..81140172,2	MCF-7	breast:
49	chr16:81144641..81147078-chr16:81149251..81151936,2	K562	blood:
50	chr16:81113091..81115144-chr16:81137957..81140174,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GCSH-2	chr16:81136437-81136565	l_1369_chr16:81136436-81166565_testes
2	lnc-GCSH-2	chr16:81165896-81166137	l_1369_chr16:81136436-81166565_testes
3	lnc-GCSH-2	chr16:81145264-81145354	l_1369_chr16:81136436-81166565_testes
4	lnc-GCSH-2	chr16:81166255-81166565	l_1369_chr16:81136436-81166565_testes

No data

Variant related genes	Relation type
RNU6-1191P	TF binding region
GCSH	TF binding region
PKD1L2	TF binding region
RNU6-1191P	CpG island
GCSH	CpG island
PKD1L2	CpG island
ENSG00000245059	chromatin interactions
ENSG00000166451	chromatin interactions
ENSG00000156508	chromatin interactions
ENSG00000140905	chromatin interactions
ENSG00000252608	chromatin interactions
ENSG00000166455	chromatin interactions
ENSG00000103121	chromatin interactions
ENSG00000166473	chromatin interactions
ENSG00000166747	chromatin interactions
ENSG00000261061	chromatin interactions
ENSG00000166454	chromatin interactions
ENSG00000260213	chromatin interactions

Extended variants
information (count: 3402 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:3402 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536741504	chr16:81129333-81129334	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs146841108	chr16:81129370-81129371	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs182887039	chr16:81129371-81129372	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs528016408	chr16:81129411-81129412	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs1563072	chr16:81129416-81129417	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs185717239	chr16:81129457-81129458	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs368496535	chr16:81129473-81129474	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs537795480	chr16:81129493-81129494	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs874437	chr16:81129495-81129496	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs140563162	chr16:81129537-81129538	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs8177850	chr16:81129585-81129586	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs59962344	chr16:81129588-81129589	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs8177849	chr16:81129590-81129591	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs553910638	chr16:81129614-81129615	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs571881344	chr16:81129621-81129622	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs542528526	chr16:81129626-81129627	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs8177848	chr16:81129646-81129647	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs2316925	chr16:81129649-81129650	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs138217530	chr16:81129684-81129685	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs544589105	chr16:81129721-81129722	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs76867061	chr16:81129759-81129760	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs17849368	chr16:81129761-81129762	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs8177847	chr16:81129794-81129795	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs533447730	chr16:81129811-81129812	Active TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs8052579	chr16:81129822-81129823	Active TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	mRNA abundance
26	rs560686530	chr16:81129830-81129831	Active TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs540997326	chr16:81129831-81129832	Active TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs549703240	chr16:81129859-81129860	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs546860042	chr16:81129862-81129863	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs568662186	chr16:81129866-81129867	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs373519843	chr16:81129884-81129885	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs549736111	chr16:81129893-81129894	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs571283434	chr16:81129904-81129905	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs561123581	chr16:81129909-81129910	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs529892469	chr16:81129919-81129920	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs8177846	chr16:81129920-81129921	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs549799536	chr16:81129927-81129928	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs565547445	chr16:81129965-81129966	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs372830976	chr16:81129970-81129971	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs190237263	chr16:81129983-81129984	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs536002501	chr16:81129989-81129990	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs8177845	chr16:81129998-81129999	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs8177844	chr16:81130010-81130011	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs8177843	chr16:81130024-81130025	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs8177842	chr16:81130059-81130060	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs556496706	chr16:81130062-81130063	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs577927538	chr16:81130070-81130071	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs545495649	chr16:81130082-81130083	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs560526604	chr16:81130096-81130097	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs572726261	chr16:81130106-81130107	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Bipolar disorder	19114987	CNVD

Chromatin state (count:639 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81122000-81129400	Weak transcription	Small Intestine	intestine
2	chr16:81128000-81130400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr16:81128000-81130400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr16:81128200-81130200	Active TSS	NH-A	brain
5	chr16:81128200-81130400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr16:81128200-81130600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr16:81128400-81129600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr16:81128400-81130000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:81128400-81130200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr16:81128400-81130200	Active TSS	NHLF	lung
11	chr16:81128400-81130400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:81128400-81130400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr16:81128400-81130400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:81128400-81130400	Active TSS	Brain Anterior Caudate	brain
15	chr16:81128400-81130400	Active TSS	A549	lung
16	chr16:81128400-81130400	Active TSS	HSMM	muscle
17	chr16:81128400-81130600	Active TSS	H9 Cell Line	embryonic stem cell
18	chr16:81128400-81130600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:81128400-81130600	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr16:81128400-81130600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr16:81128600-81129600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr16:81128600-81130000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr16:81128600-81130000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr16:81128600-81130000	Active TSS	Pancreas	Pancrea
25	chr16:81128600-81130200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr16:81128600-81130200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr16:81128600-81130200	Active TSS	Muscle Satellite Cultured Cells	--
28	chr16:81128600-81130200	Active TSS	Adipose Nuclei	Adipose
29	chr16:81128600-81130200	Active TSS	Fetal Lung	lung
30	chr16:81128600-81130200	Active TSS	Hela-S3	cervix
31	chr16:81128600-81130200	Active TSS	K562	blood
32	chr16:81128600-81130400	Active TSS	Primary T cells from cord blood	blood
33	chr16:81128600-81130400	Active TSS	Brain Angular Gyrus	brain
34	chr16:81128600-81130400	Active TSS	Brain Cingulate Gyrus	brain
35	chr16:81128600-81130400	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr16:81128600-81130400	Active TSS	Ovary	ovary
37	chr16:81128600-81130600	Active TSS	H1 Cell Line	embryonic stem cell
38	chr16:81128600-81130600	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr16:81128800-81129400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr16:81128800-81129600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr16:81128800-81129800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr16:81128800-81129800	Active TSS	Fetal Brain Male	brain
43	chr16:81128800-81129800	Active TSS	Placenta	Placenta
44	chr16:81128800-81129800	Enhancers	Stomach Mucosa	stomach
45	chr16:81128800-81129800	Active TSS	GM12878-XiMat	blood
46	chr16:81128800-81130000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr16:81128800-81130000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr16:81128800-81130000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr16:81128800-81130000	Active TSS	Aorta	Aorta
50	chr16:81128800-81130000	Active TSS	Right Atrium	heart

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