Variant report

Variant	nsv482217
Chromosome Location	chr19:18545625-18548943
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:545)
CpG islands
(count:549)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:545 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr19:18547891-18549817	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr19:18548533-18548595	K562	blood:	n/a	n/a
3	BCL3	chr19:18548654-18549317	GM12878	blood:	n/a	chr19:18548925-18548934 chr19:18548987-18548996 chr19:18548921-18548934 chr19:18549103-18549112 chr19:18549238-18549251
4	BCL3	chr19:18547430-18548093	K562	blood:	n/a	chr19:18548049-18548062 chr19:18548023-18548032
5	BCL3	chr19:18548354-18549192	K562	blood:	n/a	chr19:18548925-18548934 chr19:18548987-18548996 chr19:18548921-18548934 chr19:18549103-18549112
6	BCL3	chr19:18545624-18545919	K562	blood:	n/a	n/a
7	BCL3	chr19:18548335-18548754	A549	lung:	n/a	n/a
8	BCL3	chr19:18544467-18546028	K562	blood:	n/a	chr19:18544746-18544759 chr19:18544747-18544760
9	BHLHE40	chr19:18547325-18547605	K562	blood:	n/a	n/a
10	BHLHE40	chr19:18547894-18548070	K562	blood:	n/a	n/a
11	BHLHE40	chr19:18548436-18548675	GM12878	blood:	n/a	n/a
12	BHLHE40	chr19:18548418-18548754	K562	blood:	n/a	n/a
13	CBX3	chr19:18547663-18548259	K562	blood:	n/a	n/a
14	CBX3	chr19:18548335-18548849	K562	blood:	n/a	n/a
15	CCNT2	chr19:18546457-18546612	K562	blood:	n/a	n/a
16	CCNT2	chr19:18547647-18549839	K562	blood:	n/a	chr19:18548174-18548183 chr19:18548069-18548078 chr19:18549574-18549583 chr19:18548327-18548336 chr19:18548982-18548991 chr19:18548293-18548302 chr19:18548993-18549002
17	CCNT2	chr19:18547030-18547149	K562	blood:	n/a	n/a
18	CHD2	chr19:18545978-18546267	K562	blood:	n/a	n/a
19	CHD2	chr19:18547938-18548223	K562	blood:	n/a	n/a
20	CHD2	chr19:18548521-18548813	K562	blood:	n/a	n/a
21	CHD2	chr19:18547889-18548123	GM12878	blood:	n/a	n/a
22	CREB1	chr19:18548341-18548844	A549	lung:	n/a	n/a
23	CREB1	chr19:18547846-18548101	A549	lung:	n/a	n/a
24	CTCF	chr19:18548100-18548250	AoAF	blood vessel:	n/a	n/a
25	CTCF	chr19:18548120-18548270	GM12868	blood:	n/a	n/a
26	CTCF	chr19:18548120-18548270	BJ	skin:	n/a	n/a
27	CTCF	chr19:18548100-18548250	GM12873	blood:	n/a	n/a
28	CTCF	chr19:18548169-18548275	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr19:18548140-18548290	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr19:18548140-18548290	HEEpiC	esophagus:	n/a	n/a
31	CTCF	chr19:18548080-18548230	HBMEC	blood vessel:	n/a	n/a
32	CTCF	chr19:18548029-18548270	K562	blood:	n/a	n/a
33	CTCF	chr19:18548140-18548290	GM12865	blood:	n/a	n/a
34	CTCF	chr19:18548100-18548250	HPAF	blood vessel:	n/a	n/a
35	CTCF	chr19:18548120-18548270	HepG2	liver:	n/a	n/a
36	CTCF	chr19:18548080-18548230	GM12871	blood:	n/a	n/a
37	CTCF	chr19:18548120-18548270	GM06990	blood:	n/a	n/a
38	CTCF	chr19:18548100-18548250	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr19:18548100-18548250	HMEC	breast:	n/a	n/a
40	CTCF	chr19:18547860-18548010	HEK293	kidney:	n/a	n/a
41	CTCF	chr19:18548060-18548210	HA-sp	spinal cord:	n/a	n/a
42	CTCF	chr19:18547868-18547946	Spleen_OC	spleen:	n/a	n/a
43	CTCF	chr19:18548120-18548270	HEK293	kidney:	n/a	n/a
44	CTCF	chr19:18548160-18548310	GM12866	blood:	n/a	n/a
45	CTCF	chr19:18548080-18548230	Caco-2	colon:	n/a	n/a
46	CTCF	chr19:18548080-18548230	HCFaa	heart:	n/a	n/a
47	CTCF	chr19:18547740-18547890	GM12871	blood:	n/a	n/a
48	CTCF	chr19:18547840-18547990	HFF	foreskin:	n/a	n/a
49	CTCF	chr19:18548160-18548310	HPF	lung:	n/a	n/a
50	CTCF	chr19:18548480-18548630	SK-N-SH_RA	brain:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18547070-18547120	HepG2	liver:	n/a
2	chr19:18548583-18548633	GM12878	blood:	n/a
3	chr19:18547358-18547408	AG09309	skin:	n/a
4	chr19:18548929-18548979	CMK	blood:	n/a
5	chr19:18546719-18546769	RPTEC	kidney:	n/a
6	chr19:18548015-18548065	HCT-116	colon:	n/a
7	chr19:18546047-18546097	HCF	heart:	n/a
8	chr19:18546047-18546097	HCPEpiC	choroid plexus:	n/a
9	chr19:18548004-18548054	A549	lung:	n/a
10	chr19:18548583-18548633	MCF10A-Er-Src	breast:	n/a
11	chr19:18548583-18548633	RPTEC	kidney:	n/a
12	chr19:18546047-18546097	T-47D	breast:	n/a
13	chr19:18548004-18548054	SKMC	muscle:	n/a
14	chr19:18546047-18546097	GM12891	blood:	n/a
15	chr19:18547070-18547120	T-47D	breast:	n/a
16	chr19:18548004-18548054	GM06990	blood:	n/a
17	chr19:18546719-18546769	H1-hESC	embryonic stem cell:	embryo
18	chr19:18548929-18548979	BE2_C	brain:	n/a
19	chr19:18548583-18548633	HRCEpiC	kidney:	n/a
20	chr19:18548845-18548895	HUVEC	blood vessel:	n/a
21	chr19:18548929-18548979	LNCaP	prostate:	n/a
22	chr19:18548004-18548054	HRE	kidney:	n/a
23	chr19:18547358-18547408	HMEC	breast:	n/a
24	chr19:18548845-18548895	SAEC	small airway:	n/a
25	chr19:18548845-18548895	U87	brain:	n/a
26	chr19:18548004-18548054	HAEpiC	amniotic membrane:	n/a
27	chr19:18548015-18548065	SKMC	muscle:	n/a
28	chr19:18548845-18548895	Caco-2	colon:	n/a
29	chr19:18546719-18546769	SK-N-SH	brain:	n/a
30	chr19:18548929-18548979	SKMC	muscle:	n/a
31	chr19:18546719-18546769	BE2_C	brain:	n/a
32	chr19:18548004-18548054	HMEC	breast:	n/a
33	chr19:18546719-18546769	HEK293	kidney:	embryo
34	chr19:18546719-18546769	SKMC	muscle:	n/a
35	chr19:18546047-18546097	NT2-D1	testis:	n/a
36	chr19:18548004-18548054	Hela-S3	cervix:	n/a
37	chr19:18548004-18548054	AG10803	skin:	n/a
38	chr19:18548583-18548633	HRPEpiC	eye:	n/a
39	chr19:18547358-18547408	PrEC	prostate:	n/a
40	chr19:18548929-18548979	MCF10A-Er-Src	breast:	n/a
41	chr19:18548583-18548633	Jurkat	blood:	n/a
42	chr19:18547070-18547120	BE2_C	brain:	n/a
43	chr19:18546719-18546769	NT2-D1	testis:	n/a
44	chr19:18546719-18546769	LNCaP	prostate:	n/a
45	chr19:18548583-18548633	AG09309	skin:	n/a
46	chr19:18548015-18548065	SK-N-MC	brain:	n/a
47	chr19:18548015-18548065	HL-60	blood:	n/a
48	chr19:18548845-18548895	CMK	blood:	n/a
49	chr19:18547358-18547408	U87	brain:	n/a
50	chr19:18547358-18547408	HCPEpiC	choroid plexus:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12067124..12068644-chr19:18543710..18545856,2	K562	blood:
2	chr19:18526882..18530762-chr19:18548138..18550714,4	MCF-7	breast:
3	chr19:18534646..18537206-chr19:18547129..18549034,2	MCF-7	breast:
4	chr19:18546602..18548402-chr19:18715878..18718027,2	MCF-7	breast:
5	chr19:18548448..18551673-chr19:18681148..18684161,3	K562	blood:
6	chr19:18484864..18486946-chr19:18543605..18545790,2	K562	blood:
7	chr19:18450121..18451677-chr19:18546960..18548489,2	MCF-7	breast:
8	chr19:18314746..18317215-chr19:18546753..18549806,3	K562	blood:
9	chr19:18548281..18548923-chr3:134204312..134205255,2	HCT-116	colon:
10	chr19:18495538..18497928-chr19:18546871..18549099,2	MCF-7	breast:
11	chr19:18547268..18549412-chr19:18631404..18632910,2	K562	blood:
12	chr18:12067124..12068647-chr19:18543710..18545740,2	K562	blood:
13	chr19:18392120..18393655-chr19:18544047..18545817,2	K562	blood:
14	chr19:18388462..18393408-chr19:18545945..18551144,14	K562	blood:
15	chr19:18546603..18548898-chr19:18631485..18634393,2	MCF-7	breast:
16	chr19:18546792..18548978-chr19:18667741..18669982,2	K562	blood:
17	chr19:18546771..18549506-chr19:18943551..18946783,3	K562	blood:
18	chr19:18451193..18453522-chr19:18547468..18550080,2	K562	blood:
19	chr19:18302931..18304464-chr19:18547111..18549483,2	K562	blood:
20	chr19:18391389..18392894-chr19:18547544..18549932,2	MCF-7	breast:
21	chr19:18548890..18552469-chr19:18555256..18558580,5	MCF-7	breast:
22	chr19:18495466..18501669-chr19:18543275..18549976,8	K562	blood:
23	chr19:18388807..18393519-chr19:18545945..18551144,10	K562	blood:
24	chr19:18269587..18272195-chr19:18544788..18547771,3	K562	blood:
25	chr19:18547378..18549702-chr19:18699788..18702900,3	K562	blood:

No data

Variant related genes	Relation type
ISYNA1	TF binding region
ENSG00000268199	TF binding region
ISYNA1	CpG island
ENSG00000268199	CpG island
ENSG00000105647	chromatin interactions
ENSG00000254858	chromatin interactions
ENSG00000182923	chromatin interactions
ENSG00000264175	chromatin interactions
ENSG00000221983	chromatin interactions
ENSG00000006015	chromatin interactions
ENSG00000130513	chromatin interactions
ENSG00000267533	chromatin interactions
ENSG00000105656	chromatin interactions
ENSG00000130511	chromatin interactions
ENSG00000129055	chromatin interactions
ENSG00000105700	chromatin interactions
ENSG00000267959	chromatin interactions
ENSG00000130517	chromatin interactions
ENSG00000268650	chromatin interactions
ENSG00000130522	chromatin interactions
ENSG00000005007	chromatin interactions
ENSG00000006016	chromatin interactions
ENSG00000105649	chromatin interactions

Extended variants
information (count: 180 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143059785	chr19:18545656-18545657	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs563687209	chr19:18545666-18545667	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs544498087	chr19:18545675-18545676	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs367687629	chr19:18545678-18545679	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs148355784	chr19:18545690-18545691	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs201345070	chr19:18545700-18545701	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs3185558	chr19:18545703-18545704	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs201744334	chr19:18545717-18545718	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs1063525	chr19:18545731-18545732	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs149546342	chr19:18545747-18545748	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs1045641	chr19:18545755-18545756	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs564672040	chr19:18545774-18545775	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs143175757	chr19:18545784-18545785	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs1045631	chr19:18545786-18545787	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs536858921	chr19:18545801-18545802	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs200221382	chr19:18545819-18545820	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs141254112	chr19:18545831-18545832	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs147275395	chr19:18545839-18545840	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs570793925	chr19:18545842-18545843	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs35132827	chr19:18545857-18545858	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs539012860	chr19:18545867-18545868	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs372353337	chr19:18545872-18545873	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs558964391	chr19:18545891-18545892	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs377128388	chr19:18545909-18545910	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs375075130	chr19:18545977-18545978	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs572485947	chr19:18545978-18545979	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs535074637	chr19:18545986-18545987	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs140638486	chr19:18546005-18546006	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs200158039	chr19:18546029-18546030	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs35926638	chr19:18546030-18546031	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs372852178	chr19:18546031-18546032	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs398101116	chr19:18546035-18546036	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs370366886	chr19:18546036-18546037	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs199611885	chr19:18546052-18546053	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs368343283	chr19:18546054-18546055	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs140768810	chr19:18546125-18546126	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs201728971	chr19:18546126-18546127	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs376803671	chr19:18546136-18546137	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs200581458	chr19:18546151-18546152	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs369815519	chr19:18546156-18546157	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs143016692	chr19:18546162-18546163	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs147465943	chr19:18546198-18546199	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs199853571	chr19:18546201-18546202	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs145899718	chr19:18546203-18546204	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs117608840	chr19:18546210-18546211	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs113236643	chr19:18546212-18546213	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs558889381	chr19:18546225-18546226	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs372975698	chr19:18546226-18546227	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs528085222	chr19:18546228-18546229	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs376478643	chr19:18546231-18546232	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:558 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18532800-18547600	Weak transcription	HepG2	liver
2	chr19:18538000-18547600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:18538000-18548400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:18541000-18547800	Weak transcription	HSMMtube	muscle
5	chr19:18541600-18546800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr19:18541600-18548000	Weak transcription	Stomach Mucosa	stomach
7	chr19:18542600-18548000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr19:18542800-18545800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:18543400-18546200	Enhancers	Fetal Brain Male	brain
10	chr19:18544000-18546400	Weak transcription	Dnd41	blood
11	chr19:18544200-18546200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:18544200-18547000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr19:18544200-18547200	Weak transcription	Primary T cells from cord blood	blood
14	chr19:18544200-18547400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr19:18544200-18547400	Weak transcription	NHDF-Ad	bronchial
16	chr19:18544200-18547800	Weak transcription	Fetal Kidney	kidney
17	chr19:18544400-18545800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:18544400-18546400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr19:18544400-18546400	Weak transcription	Gastric	stomach
20	chr19:18544400-18546600	Weak transcription	Liver	Liver
21	chr19:18544400-18546600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr19:18544400-18547000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr19:18544400-18547000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr19:18544400-18547000	Weak transcription	Adipose Nuclei	Adipose
25	chr19:18544400-18547000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr19:18544400-18547400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:18544400-18547400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr19:18544400-18547600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr19:18544400-18547600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr19:18544400-18547600	Weak transcription	HSMM	muscle
31	chr19:18544400-18547600	Strong transcription	NHLF	lung
32	chr19:18544400-18547800	Weak transcription	Brain Angular Gyrus	brain
33	chr19:18544400-18548600	Weak transcription	Brain Substantia Nigra	brain
34	chr19:18544800-18547000	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr19:18544800-18547400	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr19:18544800-18547400	Genic enhancers	Placenta	Placenta
37	chr19:18544800-18547400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr19:18545000-18545800	Enhancers	Fetal Heart	heart
39	chr19:18545000-18546000	Weak transcription	Aorta	Aorta
40	chr19:18545000-18546400	Weak transcription	HMEC	breast
41	chr19:18545000-18547200	ZNF genes & repeats	Fetal Intestine Large	intestine
42	chr19:18545000-18547200	Weak transcription	Thymus	Thymus
43	chr19:18545000-18547600	Genic enhancers	Primary T cells fromperipheralblood	blood
44	chr19:18545000-18547600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr19:18545000-18547800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr19:18545200-18545800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr19:18545200-18546000	Enhancers	Primary B cells from peripheral blood	blood
48	chr19:18545200-18546000	Enhancers	Primary hematopoietic stem cells	blood
49	chr19:18545200-18546000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr19:18545200-18546000	Genic enhancers	Fetal Stomach	stomach

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