Variant report

Variant	nsv1061016
Chromosome Location	chr19:53603952-53641569
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:680)
CpG islands
(count:1284)
Chromatin interactive
region (count:24)
LncRNA
region (count:32)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:680 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:53624883-53625151	HepG2	liver:	n/a	n/a
2	ATF2	chr19:53606497-53607018	GM12878	blood:	n/a	n/a
3	ATF3	chr19:53606544-53606749	K562	blood:	n/a	chr19:53606712-53606721
4	BACH1	chr19:53607015-53607178	K562	blood:	n/a	n/a
5	BACH1	chr19:53606550-53607222	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr19:53606356-53607144	GM12878	blood:	n/a	chr19:53606663-53606672
7	BCLAF1	chr19:53606828-53607327	GM12878	blood:	n/a	n/a
8	BHLHE40	chr19:53606021-53607112	GM12878	blood:	n/a	n/a
9	BHLHE40	chr19:53606496-53607106	K562	blood:	n/a	n/a
10	CBX3	chr19:53606495-53607294	K562	blood:	n/a	n/a
11	CCNT2	chr19:53606567-53607217	K562	blood:	n/a	n/a
12	CEBPB	chr19:53604884-53605062	K562	blood:	n/a	chr19:53604994-53605011
13	CEBPB	chr19:53639752-53640060	HepG2	liver:	n/a	n/a
14	CEBPB	chr19:53612975-53613054	K562	blood:	n/a	n/a
15	CEBPB	chr19:53630498-53630646	HepG2	liver:	n/a	n/a
16	CEBPB	chr19:53640690-53640878	HepG2	liver:	n/a	chr19:53640765-53640776
17	CEBPB	chr19:53640682-53640844	K562	blood:	n/a	chr19:53640765-53640776
18	CEBPB	chr19:53630429-53630753	HepG2	liver:	n/a	n/a
19	CEBPB	chr19:53638102-53638181	HepG2	liver:	n/a	n/a
20	CEBPB	chr19:53639848-53640015	K562	blood:	n/a	n/a
21	CEBPB	chr19:53639775-53640090	A549	lung:	n/a	n/a
22	CEBPD	chr19:53606339-53607235	K562	blood:	n/a	n/a
23	CHD1	chr19:53605155-53607496	IMR90	lung:	n/a	chr19:53606338-53606348
24	CHD1	chr19:53605620-53607121	GM12878	blood:	n/a	chr19:53606338-53606348
25	CHD1	chr19:53606365-53606565	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr19:53606469-53606501	K562	blood:	n/a	n/a
27	CHD2	chr19:53606624-53606810	HepG2	liver:	n/a	n/a
28	CHD2	chr19:53606942-53607168	K562	blood:	n/a	n/a
29	CHD2	chr19:53606410-53607157	GM12878	blood:	n/a	n/a
30	CHD2	chr19:53606419-53607232	Hela-S3	cervix:	n/a	n/a
31	CHD2	chr19:53606569-53606802	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr19:53606433-53607089	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr19:53606415-53607268	HepG2	liver:	n/a	n/a
34	CREB1	chr19:53606450-53606985	A549	lung:	n/a	n/a
35	CREB1	chr19:53606521-53607254	GM12878	blood:	n/a	n/a
36	CREB1	chr19:53606393-53607249	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chr19:53606581-53606800	A549	lung:	n/a	n/a
38	CREB1	chr19:53606391-53607205	K562	blood:	n/a	n/a
39	CTBP2	chr19:53606571-53607142	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr19:53606232-53606287	MCF-7	breast:	n/a	n/a
41	CTCF	chr19:53606140-53606290	HCPEpiC	choroid plexus:	n/a	chr19:53606223-53606236
42	CTCF	chr19:53606260-53606410	WI-38	lung:	n/a	n/a
43	CTCF	chr19:53635154-53635248	Spleen_OC	spleen:	n/a	chr19:53635173-53635186
44	CTCF	chr19:53606080-53606230	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr19:53632820-53632970	GM12869	blood:	n/a	n/a
46	CTCF	chr19:53629497-53629571	GM10266	blood:	n/a	n/a
47	CTCF	chr19:53606180-53606330	AG04449	skin:	n/a	chr19:53606223-53606236
48	CTCF	chr19:53623018-53623081	GM10266	blood:	n/a	n/a
49	CTCF	chr19:53635460-53635610	Caco-2	colon:	n/a	n/a
50	CTCF	chr19:53606120-53606270	HRE	kidney:	n/a	chr19:53606223-53606236

(count:1284 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:53636347-53636397	HEK293	kidney:	embryo
2	chr19:53619086-53619136	AG09319	gingival:	n/a
3	chr19:53619086-53619136	Hela-S3	cervix:	n/a
4	chr19:53636347-53636397	HEK293	kidney:	embryo
5	chr19:53619086-53619136	AG09319	gingival:	n/a
6	chr19:53619086-53619136	Hela-S3	cervix:	n/a
7	chr19:53636077-53636127	GM12878	blood:	n/a
8	chr19:53636309-53636359	GM12878	blood:	n/a
9	chr19:53637178-53637228	AG04449	skin:	fetal
10	chr19:53605221-53605271	PFSK-1	brain:	n/a
11	chr19:53636226-53636276	T-47D	breast:	n/a
12	chr19:53606538-53606588	SKMC	muscle:	n/a
13	chr19:53636226-53636276	NH-A	brain:	n/a
14	chr19:53635967-53636017	HMEC	breast:	n/a
15	chr19:53636309-53636359	AG04449	skin:	fetal
16	chr19:53635967-53636017	ProgFib	skin:	n/a
17	chr19:53605221-53605271	SAEC	small airway:	n/a
18	chr19:53636077-53636127	HPAEpiC	pulmonary alveolar:	n/a
19	chr19:53639374-53639424	HUVEC	blood vessel:	n/a
20	chr19:53636398-53636448	GM06990	blood:	n/a
21	chr19:53635532-53635582	MCF10A-Er-Src	breast:	n/a
22	chr19:53605221-53605271	HIPEpiC	eye:	n/a
23	chr19:53637152-53637202	HIPEpiC	eye:	n/a
24	chr19:53606654-53606704	GM12891	blood:	n/a
25	chr19:53636309-53636359	H1-hESC	embryonic stem cell:	embryo
26	chr19:53607021-53607071	PFSK-1	brain:	n/a
27	chr19:53619086-53619136	BJ	skin:	n/a
28	chr19:53637152-53637202	T-47D	breast:	n/a
29	chr19:53607021-53607071	MCF10A-Er-Src	breast:	n/a
30	chr19:53636229-53636279	PrEC	prostate:	n/a
31	chr19:53635967-53636017	HIPEpiC	eye:	n/a
32	chr19:53607021-53607071	CMK	blood:	n/a
33	chr19:53607009-53607059	SK-N-MC	brain:	n/a
34	chr19:53636229-53636279	HCT-116	colon:	n/a
35	chr19:53637178-53637228	HL-60	blood:	n/a
36	chr19:53605221-53605271	SK-N-MC	brain:	n/a
37	chr19:53636077-53636127	MCF-7	breast:	n/a
38	chr19:53607021-53607071	AoSMC	blood vessel:	n/a
39	chr19:53637178-53637228	BJ	skin:	n/a
40	chr19:53606654-53606704	HAEpiC	amniotic membrane:	n/a
41	chr19:53607009-53607059	AG04450	lung:	fetal
42	chr19:53606654-53606704	CMK	blood:	n/a
43	chr19:53619086-53619136	HCM	heart:	n/a
44	chr19:53637152-53637202	HEK293	kidney:	embryo
45	chr19:53606538-53606588	Hela-S3	cervix:	n/a
46	chr19:53606654-53606704	SK-N-MC	brain:	n/a
47	chr19:53619086-53619136	GM12878	blood:	n/a
48	chr19:53607009-53607059	NHDF-neo	bronchial:	n/a
49	chr19:53605221-53605271	AG09319	gingival:	n/a
50	chr19:53606340-53606390	SK-N-MC	brain:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161171615..161172146-chr19:53606421..53607387,2	Hela-S3	cervix:
2	chr19:53632203..53634938-chr19:53638072..53639921,3	K562	blood:
3	chr19:53461518..53463448-chr19:53612422..53614320,2	K562	blood:
4	chr19:53445011..53447703-chr19:53608056..53610253,2	MCF-7	breast:
5	chr19:53605668..53607608-chr19:53634404..53636647,2	MCF-7	breast:
6	chr19:53636525..53638323-chr19:53641645..53644097,2	K562	blood:
7	chr19:53580105..53582342-chr19:53607361..53608967,2	MCF-7	breast:
8	chr19:53606146..53606673-chr6:34759631..34760361,2	Hela-S3	cervix:
9	chr19:53604512..53608513-chr19:53609307..53612794,4	MCF-7	breast:
10	chr19:53603113..53604676-chr19:53605160..53608027,2	MCF-7	breast:
11	chr19:53633105..53635277-chr19:53638182..53639942,2	K562	blood:
12	chr19:53605668..53607608-chr19:53634404..53636647,2	MCF-7	breast:
13	chr19:53617497..53619438-chr19:53623367..53626154,3	K562	blood:
14	chr19:53632203..53634938-chr19:53638072..53639921,3	K562	blood:
15	chr19:53610363..53612627-chr19:53660815..53663368,2	K562	blood:
16	chr19:53601090..53603099-chr19:53630653..53632192,2	MCF-7	breast:
17	chr19:53601358..53604101-chr19:53630122..53631842,2	MCF-7	breast:
18	chr19:53605891..53607584-chr19:58896314..58898154,2	MCF-7	breast:
19	chr19:53618140..53620226-chr19:53631544..53634250,2	MCF-7	breast:
20	chr19:53640542..53642396-chr19:53645569..53647912,2	MCF-7	breast:
21	chr19:53601358..53604101-chr19:53630122..53631842,2	MCF-7	breast:
22	chr19:53140133..53142689-chr19:53604558..53606639,2	MCF-7	breast:
23	chr19:52691998..52694919-chr19:53605403..53608321,3	K562	blood:
24	chr19:53617497..53619438-chr19:53623367..53626154,3	K562	blood:

(count:32 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF415-2	chr19:53606518-53606580	NONHSAT067628
2	lnc-ZNF347-2	chr19:53636002-53636153	NONHSAT067634
3	lnc-ZNF347-2	chr19:53625915-53625996	NONHSAT067631
4	lnc-ZNF415-1	chr19:53638190-53638575	ENSG00000268613.1
5	lnc-ZNF347-2	chr19:53619513-53619686	NONHSAT067636
6	lnc-ZNF347-2	chr19:53619566-53619686	NONHSAT067634
7	lnc-ZNF347-2	chr19:53636109-53636153	NONHSAT067632
8	lnc-ZNF347-2	chr19:53636109-53636173	NONHSAT067635
9	lnc-ZNF347-2	chr19:53612991-53613161	NONHSAT067631
10	lnc-ZNF347-2	chr19:53618957-53619064	NONHSAT067632
11	lnc-ZNF347-2	chr19:53636002-53636169	NONHSAT067636
12	lnc-ZNF347-2	chr19:53636109-53636157	NONHSAT067630
13	lnc-ZNF347-2	chr19:53618511-53618585	NONHSAT067632
14	lnc-VN1R2-9	chr19:53611890-53613152	NONHSAT067620
15	lnc-ZNF347-2	chr19:53619566-53619686	NONHSAT067635
16	lnc-ZNF347-2	chr19:53626754-53626908	NONHSAT067633
17	lnc-ZNF347-2	chr19:53625915-53625996	NONHSAT067633
18	lnc-ZNF347-2	chr19:53636002-53636330	NONHSAT067631
19	lnc-ZNF347-2	chr19:53619037-53619177	NONHSAT067635
20	lnc-ZNF347-2	chr19:53619566-53619686	NONHSAT067632
21	lnc-ZNF347-2	chr19:53619010-53619064	NONHSAT067634
22	lnc-ZNF347-2	chr19:53627046-53627159	NONHSAT067632
23	lnc-ZNF347-2	chr19:53619566-53619686	NONHSAT067633
24	lnc-ZNF347-2	chr19:53612860-53613161	NONHSAT067630
25	lnc-ZNF347-2	chr19:53625657-53625869	NONHSAT067634
26	lnc-ZNF347-2	chr19:53625657-53625865	NONHSAT067630
27	lnc-ZNF347-2	chr19:53625657-53625869	NONHSAT067636
28	lnc-ZNF415-2	chr19:53606518-53606631	NONHSAT067624
29	lnc-ZNF347-2	chr19:53618987-53619177	NONHSAT067633
30	lnc-ZNF347-2	chr19:53625657-53625869	NONHSAT067635
31	lnc-ZNF347-2	chr19:53636109-53636145	NONHSAT067633
32	lnc-ZNF347-2	chr19:53625915-53625996	NONHSAT067632

No data

Variant related genes	Relation type
ZNF415	TF binding region
ZNF160	TF binding region
ENSG00000268613	TF binding region
ZNF415	CpG island
ZNF160	CpG island
ENSG00000268613	CpG island
ENSG00000065060	chromatin interactions
ENSG00000268613	chromatin interactions
ENSG00000213801	chromatin interactions
ENSG00000167766	chromatin interactions
ENSG00000158864	chromatin interactions
ENSG00000083845	chromatin interactions
ENSG00000170954	chromatin interactions
ENSG00000197937	chromatin interactions
ENSG00000105568	chromatin interactions
ENSG00000170949	chromatin interactions
ENSG00000180257	chromatin interactions

Extended variants
information (count: 1685 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1685 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16984444	chr19:53603952-53603953	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558077653	chr19:53603958-53603959	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs575935939	chr19:53603971-53603972	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs112243698	chr19:53603985-53603986	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs28662846	chr19:53603987-53603988	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573653886	chr19:53603990-53603991	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs540744486	chr19:53604014-53604015	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs28726276	chr19:53604030-53604031	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs28701520	chr19:53604034-53604035	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs113975084	chr19:53604053-53604054	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs544469160	chr19:53604107-53604108	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs28528321	chr19:53604159-53604160	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs564840516	chr19:53604180-53604181	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs531564082	chr19:53604195-53604196	Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs550027882	chr19:53604233-53604234	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs144340073	chr19:53604241-53604242	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs531922062	chr19:53604360-53604361	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs192508062	chr19:53604365-53604366	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs7253566	chr19:53604405-53604406	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs529085644	chr19:53604415-53604416	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs568376706	chr19:53604424-53604425	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs535937074	chr19:53604455-53604456	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs182571780	chr19:53604489-53604490	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs565874750	chr19:53604515-53604516	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs71361299	chr19:53604552-53604553	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs557676016	chr19:53604602-53604603	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs569883945	chr19:53604605-53604606	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs60307862	chr19:53604644-53604645	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs145552001	chr19:53604676-53604677	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs35223076	chr19:53604677-53604678	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs55772095	chr19:53604686-53604687	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs188190370	chr19:53604699-53604700	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs7255011	chr19:53604725-53604726	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs551669119	chr19:53604778-53604779	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540706745	chr19:53604871-53604872	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs552697883	chr19:53604872-53604873	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs572296620	chr19:53604929-53604930	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs569693112	chr19:53604936-53604937	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs545950619	chr19:53604946-53604947	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs564544768	chr19:53604953-53604954	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs141227610	chr19:53604960-53604961	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs146958496	chr19:53604966-53604967	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs8111777	chr19:53604990-53604991	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs529350418	chr19:53604994-53604995	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs376597132	chr19:53605017-53605018	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs547899501	chr19:53605018-53605019	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs568062436	chr19:53605019-53605020	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs17300167	chr19:53605047-53605048	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs533466626	chr19:53605060-53605061	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs4803049	chr19:53605066-53605067	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:68)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD

Chromatin state (count:1686 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53573600-53604800	Weak transcription	Hela-S3	cervix
2	chr19:53576800-53605200	Weak transcription	Stomach Mucosa	stomach
3	chr19:53585400-53604800	Weak transcription	Psoas Muscle	Psoas
4	chr19:53589200-53604800	Weak transcription	Fetal Brain Male	brain
5	chr19:53589600-53604800	Weak transcription	Small Intestine	intestine
6	chr19:53590400-53605000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr19:53592800-53604800	Weak transcription	HUVEC	blood vessel
8	chr19:53594400-53605200	Weak transcription	Fetal Lung	lung
9	chr19:53594600-53604800	Weak transcription	Fetal Kidney	kidney
10	chr19:53594600-53604800	Weak transcription	NHEK	skin
11	chr19:53595200-53604000	Weak transcription	Pancreas	Pancrea
12	chr19:53597600-53604800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr19:53597800-53604800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:53597800-53604800	Weak transcription	NH-A	brain
15	chr19:53598800-53604800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:53599000-53604800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr19:53599000-53604800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr19:53599000-53604800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:53599000-53604800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr19:53599000-53604800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr19:53599000-53604800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr19:53599000-53604800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr19:53599000-53604800	Weak transcription	HSMM	muscle
24	chr19:53599000-53605000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr19:53599000-53605400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr19:53599200-53604800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:53599200-53604800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr19:53600800-53604600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:53600800-53605600	ZNF genes & repeats	GM12878-XiMat	blood
30	chr19:53601000-53604200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr19:53601000-53604200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:53601000-53604400	Strong transcription	Fetal Stomach	stomach
33	chr19:53601400-53604800	Weak transcription	Brain Hippocampus Middle	brain
34	chr19:53601400-53604800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr19:53601400-53604800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr19:53601400-53604800	Weak transcription	HMEC	breast
37	chr19:53601400-53605000	Weak transcription	Colon Smooth Muscle	Colon
38	chr19:53601600-53604200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr19:53601600-53604800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr19:53601600-53604800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr19:53601600-53604800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr19:53601600-53604800	Weak transcription	Brain Angular Gyrus	brain
43	chr19:53601600-53604800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr19:53601600-53604800	Weak transcription	Fetal Heart	heart
45	chr19:53601600-53604800	Weak transcription	Fetal Thymus	thymus
46	chr19:53601600-53604800	Weak transcription	Gastric	stomach
47	chr19:53601600-53604800	Weak transcription	Right Atrium	heart
48	chr19:53601600-53604800	Weak transcription	Right Ventricle	heart
49	chr19:53601600-53604800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr19:53601600-53604800	Weak transcription	HSMMtube	muscle

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