Variant report

Variant	nsv912329
Chromosome Location	chr19:53317001-53440653
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1944)
CpG islands
(count:2319)
Chromatin interactive
region (count:61)
LncRNA
region (count:47)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:53438785-53438996	K562	blood:	n/a	n/a
2	ARID3A	chr19:53439543-53440078	K562	blood:	n/a	n/a
3	ARID3A	chr19:53427687-53427726	K562	blood:	n/a	n/a
4	ATF1	chr19:53426298-53426976	K562	blood:	n/a	n/a
5	ATF1	chr19:53439468-53440101	K562	blood:	n/a	n/a
6	ATF1	chr19:53427511-53427796	K562	blood:	n/a	n/a
7	ATF2	chr19:53426188-53426746	GM12878	blood:	n/a	n/a
8	ATF3	chr19:53427509-53427761	K562	blood:	n/a	n/a
9	ATF3	chr19:53438666-53438971	K562	blood:	n/a	n/a
10	ATF3	chr19:53439515-53439954	K562	blood:	n/a	n/a
11	BACH1	chr19:53324738-53324945	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr19:53439760-53439843	K562	blood:	n/a	n/a
13	BACH1	chr19:53426291-53426669	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr19:53400547-53401042	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr19:53426374-53426640	K562	blood:	n/a	n/a
16	BACH1	chr19:53360719-53361014	H1-hESC	embryonic stem cell:	n/a	n/a
17	BATF	chr19:53439573-53440019	GM12878	blood:	n/a	chr19:53439829-53439840
18	BATF	chr19:53439647-53439948	GM12878	blood:	n/a	chr19:53439829-53439840
19	BATF	chr19:53407016-53407286	GM12878	blood:	n/a	n/a
20	BATF	chr19:53336688-53337003	GM12878	blood:	n/a	chr19:53336917-53336927 chr19:53336913-53336923 chr19:53336723-53336732 chr19:53336898-53336906
21	BATF	chr19:53336721-53337013	GM12878	blood:	n/a	chr19:53336917-53336927 chr19:53336913-53336923 chr19:53336723-53336732 chr19:53336898-53336906
22	BCL11A	chr19:53360679-53360916	GM12878	blood:	n/a	chr19:53360828-53360837
23	BCL11A	chr19:53428812-53428959	GM12878	blood:	n/a	n/a
24	BCL11A	chr19:53362420-53362624	GM12878	blood:	n/a	n/a
25	BCL3	chr19:53439413-53440163	K562	blood:	n/a	n/a
26	BCL3	chr19:53426498-53426869	GM12878	blood:	n/a	chr19:53426812-53426821 chr19:53426810-53426823
27	BCLAF1	chr19:53426282-53426729	GM12878	blood:	n/a	chr19:53426424-53426433
28	BHLHE40	chr19:53427608-53427722	K562	blood:	n/a	n/a
29	BHLHE40	chr19:53324867-53324898	K562	blood:	n/a	n/a
30	BHLHE40	chr19:53439437-53440064	K562	blood:	n/a	n/a
31	BHLHE40	chr19:53401560-53401600	K562	blood:	n/a	n/a
32	BHLHE40	chr19:53400368-53401093	GM12878	blood:	n/a	n/a
33	BHLHE40	chr19:53439408-53439921	GM12878	blood:	n/a	n/a
34	BHLHE40	chr19:53400452-53401079	K562	blood:	n/a	n/a
35	BHLHE40	chr19:53426214-53426710	K562	blood:	n/a	n/a
36	BHLHE40	chr19:53376302-53376339	K562	blood:	n/a	n/a
37	BHLHE40	chr19:53360687-53361035	GM12878	blood:	n/a	chr19:53360820-53360836 chr19:53360998-53361014
38	BHLHE40	chr19:53426291-53426835	GM12878	blood:	n/a	n/a
39	BRCA1	chr19:53400249-53401056	Hela-S3	cervix:	n/a	n/a
40	BRCA1	chr19:53426170-53426696	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr19:53426297-53426678	HepG2	liver:	n/a	n/a
42	BRCA1	chr19:53400246-53400961	H1-hESC	embryonic stem cell:	n/a	n/a
43	BRCA1	chr19:53400551-53400898	GM12878	blood:	n/a	n/a
44	BRCA1	chr19:53426334-53426571	GM12878	blood:	n/a	n/a
45	CBX3	chr19:53383913-53384365	K562	blood:	n/a	n/a
46	CBX3	chr19:53438529-53439040	K562	blood:	n/a	n/a
47	CBX3	chr19:53427433-53427925	K562	blood:	n/a	n/a
48	CBX3	chr19:53399712-53400079	K562	blood:	n/a	n/a
49	CBX3	chr19:53439302-53440124	K562	blood:	n/a	n/a
50	CBX3	chr19:53360595-53361343	K562	blood:	n/a	n/a

(count:2319 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:53324278-53324328	RPTEC	kidney:	n/a
2	chr19:53324278-53324328	RPTEC	kidney:	n/a
3	chr19:53324732-53324782	MCF10A-Er-Src	breast:	n/a
4	chr19:53426233-53426283	NHDF-neo	bronchial:	n/a
5	chr19:53394977-53395027	HIPEpiC	eye:	n/a
6	chr19:53324278-53324328	AG09319	gingival:	n/a
7	chr19:53360728-53360778	T-47D	breast:	n/a
8	chr19:53426802-53426852	HMEC	breast:	n/a
9	chr19:53325913-53325963	NH-A	brain:	n/a
10	chr19:53394977-53395027	NT2-D1	testis:	n/a
11	chr19:53361448-53361498	NH-A	brain:	n/a
12	chr19:53324732-53324782	BE2_C	brain:	n/a
13	chr19:53393512-53393562	HEK293	kidney:	embryo
14	chr19:53383549-53383599	AoSMC	blood vessel:	n/a
15	chr19:53361164-53361214	HMEC	breast:	n/a
16	chr19:53400778-53400828	MCF-7	breast:	n/a
17	chr19:53324732-53324782	HCM	heart:	n/a
18	chr19:53430697-53430747	GM12878	blood:	n/a
19	chr19:53400933-53400983	NH-A	brain:	n/a
20	chr19:53363482-53363532	SKMC	muscle:	n/a
21	chr19:53395225-53395275	ECC-1	luminal epithelium:	n/a
22	chr19:53429005-53429055	H1-hESC	embryonic stem cell:	embryo
23	chr19:53403009-53403059	HRCEpiC	kidney:	n/a
24	chr19:53342580-53342630	HCM	heart:	n/a
25	chr19:53361448-53361498	ovcar-3	ovarian:	n/a
26	chr19:53361448-53361498	Hela-S3	cervix:	n/a
27	chr19:53383549-53383599	SAEC	small airway:	n/a
28	chr19:53426802-53426852	PANC-1	pancreas:	n/a
29	chr19:53361066-53361116	HPAEpiC	pulmonary alveolar:	n/a
30	chr19:53361448-53361498	HPAEpiC	pulmonary alveolar:	n/a
31	chr19:53359733-53359783	HRPEpiC	eye:	n/a
32	chr19:53429005-53429055	PFSK-1	brain:	n/a
33	chr19:53361448-53361498	A549	lung:	n/a
34	chr19:53426388-53426438	HepG2	liver:	n/a
35	chr19:53400778-53400828	HAEpiC	amniotic membrane:	n/a
36	chr19:53394626-53394676	HAEpiC	amniotic membrane:	n/a
37	chr19:53361164-53361214	HEK293	kidney:	embryo
38	chr19:53400778-53400828	PFSK-1	brain:	n/a
39	chr19:53363482-53363532	LNCaP	prostate:	n/a
40	chr19:53394977-53395027	HCM	heart:	n/a
41	chr19:53393512-53393562	HRCEpiC	kidney:	n/a
42	chr19:53361164-53361214	NH-A	brain:	n/a
43	chr19:53361448-53361498	AG10803	skin:	n/a
44	chr19:53362925-53362975	A549	lung:	n/a
45	chr19:53432372-53432422	HRPEpiC	eye:	n/a
46	chr19:53324278-53324328	SK-N-MC	brain:	n/a
47	chr19:53429005-53429055	BJ	skin:	n/a
48	chr19:53361164-53361214	GM12878	blood:	n/a
49	chr19:53359733-53359783	H1-hESC	embryonic stem cell:	embryo
50	chr19:53400545-53400595	Jurkat	blood:	n/a

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:53399773..53402425-chr19:53424830..53427617,2	MCF-7	breast:
2	chr19:53398338..53403121-chr19:53425170..53428184,6	K562	blood:
3	chr19:53400711..53402486-chr19:53463191..53466156,2	K562	blood:
4	chr19:53193532..53195862-chr19:53359115..53361191,3	K562	blood:
5	chr19:53424714..53426568-chr19:53443432..53446550,3	MCF-7	breast:
6	chr19:53322321..53326212-chr19:53359240..53361245,4	K562	blood:
7	chr19:53393138..53396276-chr19:53398172..53401096,6	MCF-7	breast:
8	chr19:53424975..53429001-chr19:53430174..53432512,3	K562	blood:
9	chr19:53335113..53339470-chr19:53340101..53344099,5	K562	blood:
10	chr19:53426133..53428140-chr19:53445241..53446971,2	K562	blood:
11	chr19:53412333..53414642-chr19:53425536..53427807,2	K562	blood:
12	chr19:53324392..53324894-chr19:53934932..53935516,2	MCF-7	breast:
13	chr19:53419869..53422803-chr19:53423217..53426977,4	K562	blood:
14	chr19:53398338..53403121-chr19:53425170..53428184,6	K562	blood:
15	chr19:53322321..53326212-chr19:53359321..53361245,3	K562	blood:
16	chr18:61637223..61637841-chr19:53397208..53398194,2	Hela-S3	cervix:
17	chr19:53359564..53361265-chr19:53424872..53426783,2	MCF-7	breast:
18	chr19:53419869..53422803-chr19:53423217..53426977,4	K562	blood:
19	chr19:53418400..53422745-chr19:53423096..53427800,7	K562	blood:
20	chr19:53398338..53401958-chr19:53425181..53428572,6	K562	blood:
21	chr19:53390480..53393412-chr19:53415932..53418277,2	K562	blood:
22	chr19:53397070..53398594-chr19:53398820..53400571,2	MCF-7	breast:
23	chr19:53324497..53325251-chr19:53360339..53360857,4	MCF-7	breast:
24	chr19:53377771..53379611-chr19:53399736..53401870,2	K562	blood:
25	chr19:53418400..53422745-chr19:53423096..53427800,7	K562	blood:
26	chr19:53391514..53397028-chr19:53398889..53402751,6	K562	blood:
27	chr19:53359757..53362433-chr19:53464752..53467349,2	MCF-7	breast:
28	chr19:53322321..53326212-chr19:53359321..53361245,3	K562	blood:
29	chr19:53391514..53397028-chr19:53398889..53402751,6	K562	blood:
30	chr19:53338835..53341536-chr19:53343202..53344870,2	K562	blood:
31	chr19:53399773..53402425-chr19:53424830..53427617,2	MCF-7	breast:
32	chr19:53424849..53427676-chr19:53433481..53436897,3	K562	blood:
33	chr19:53324497..53325251-chr19:53360339..53360857,4	MCF-7	breast:
34	chr19:53400554..53402197-chr19:53402529..53405491,2	MCF-7	breast:
35	chr19:53398338..53401958-chr19:53425181..53428572,6	K562	blood:
36	chr19:53434778..53437566-chr19:53444319..53447141,2	MCF-7	breast:
37	chr19:53335113..53339470-chr19:53340101..53344099,5	K562	blood:
38	chr19:53399145..53401987-chr19:53438300..53441406,3	K562	blood:
39	chr19:53393138..53396276-chr19:53398172..53401096,6	MCF-7	breast:
40	chr19:53322321..53326212-chr19:53359240..53361245,4	K562	blood:
41	chr19:53426133..53428640-chr19:53444456..53447019,4	K562	blood:
42	chr19:53324563..53325122-chr19:53360322..53360852,2	NB4	blood:
43	chr19:53359564..53361265-chr19:53424872..53426783,2	MCF-7	breast:
44	chr19:53398857..53399725-chr3:31226625..31227200,2	MCF-7	breast:
45	chr19:53390480..53393412-chr19:53415932..53418277,2	K562	blood:
46	chr19:53425636..53428538-chr19:53430721..53433929,3	K562	blood:
47	chr19:53380234..53382987-chr19:53399088..53400987,2	K562	blood:
48	chr19:53357060..53358583-chr19:53400479..53402706,2	MCF-7	breast:
49	chr11:62608903..62609637-chr19:53426135..53426686,2	Hela-S3	cervix:
50	chr19:53431907..53434266-chr19:53444043..53446544,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF468-1	chr19:53357511-53357598	NR_102301
2	lnc-ZNF468-2	chr19:53365060-53366119	NONHSAT067590
3	lnc-ZNF320-2	chr19:53394482-53394599	NONHSAT067595
4	lnc-ZNF468-1	chr19:53352340-53352466	NR_102299
5	lnc-ZNF320-2	chr19:53396637-53396872	NONHSAT067594
6	lnc-ZNF468-1	chr19:53341785-53345404	NR_102301
7	lnc-ZNF468-1	chr19:53360825-53360902	NR_102301
8	lnc-ZNF320-3	chr19:53377245-53377325	NONHSAT067592
9	lnc-ZNF468-1	chr19:53357511-53357598	NR_102299
10	lnc-ZNF468-1	chr19:53352340-53352466	NR_102300
11	lnc-ZNF320-3	chr19:53367043-53367412	NONHSAT067591
12	lnc-ZNF468-3	chr19:53321197-53321281	NONHSAT067589
13	lnc-ZNF468-1	chr19:53352340-53352466	NR_102301
14	lnc-ZNF320-2	chr19:53393514-53393581	NONHSAT067594
15	lnc-ZNF320-1	chr19:53379431-53379838	NONHSAT067593
16	lnc-ZNF468-1	chr19:53360825-53360902	NR_102299
17	lnc-ZNF320-2	chr19:53400773-53400908	NONHSAT067594
18	lnc-ZNF320-2	chr19:53397032-53397174	NONHSAT067596
19	lnc-ZNF468-3	chr19:53317537-53317679	NONHSAT067589
20	lnc-ZNF468-3	chr19:53321197-53321284	NONHSAT067588
21	lnc-ZNF816-1	chr19:53430388-53432667	NR_037805
22	lnc-ZNF320-2	chr19:53400773-53400902	NONHSAT067595
23	lnc-ZNF468-1	chr19:53341785-53345404	NR_102300
24	lnc-ZNF320-3	chr19:53377245-53377325	NONHSAT067591
25	lnc-ZNF468-1	chr19:53348432-53348549	NR_102299
26	lnc-ZNF320-1	chr19:53398098-53398409	NONHSAT067593
27	lnc-ZNF468-1	chr19:53357125-53357379	NR_102301
28	lnc-ZNF468-1	chr19:53348432-53348549	NR_102300
29	lnc-ZNF468-1	chr19:53360825-53360902	NR_102300
30	lnc-ZNF320-2	chr19:53396637-53396872	NONHSAT067595
31	lnc-ZNF320-2	chr19:53393562-53393581	NONHSAT067595
32	lnc-ZNF468-1	chr19:53357125-53357379	NR_102299
33	lnc-ZNF320-3	chr19:53377411-53377490	NONHSAT067591
34	lnc-ZNF468-1	chr19:53357511-53357598	NR_102300
35	lnc-ZNF320-2	chr19:53398644-53399035	NONHSAT067597
36	lnc-ZNF320-2	chr19:53397032-53397109	NONHSAT067595
37	lnc-VN1R2-12	chr19:53426926-53427328	ENSG00000269646.1
38	lnc-ZNF468-3	chr19:53324839-53324886	NONHSAT067588
39	lnc-ZNF468-1	chr19:53341785-53345404	NR_102299
40	lnc-ZNF320-2	chr19:53394482-53394599	NONHSAT067594
41	lnc-ZNF320-3	chr19:53367175-53367412	NONHSAT067592
42	lnc-ZNF320-2	chr19:53394513-53394599	NONHSAT067596
43	lnc-ZNF320-2	chr19:53400773-53400888	NONHSAT067597
44	lnc-VN1R2-12	chr19:53426635-53426717	ENSG00000269646.1
45	lnc-ZNF701-2	chr19:53342913-53343520	NONHSAT067585
46	lnc-ZNF320-3	chr19:53382704-53382886	NONHSAT067592
47	lnc-ZNF468-1	chr19:53357125-53357360	NR_102300

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ZNF320	hsa-miR-192-5p	chr19:53381440-53381461

Variant related genes	Relation type
ENSG00000269646	TF binding region
ZNF888	TF binding region
ENSG00000268225	TF binding region
ZNF320	TF binding region
ZNF28	TF binding region
ZNF468	TF binding region
ZNF816-ZNF321P	TF binding region
ENSG00000269646	CpG island
ZNF888	CpG island
ENSG00000268225	CpG island
ZNF320	CpG island
ZNF28	CpG island
ZNF468	CpG island
ZNF816-ZNF321P	CpG island
ENSG00000166401	chromatin interactions
ENSG00000221874	chromatin interactions
ENSG00000241015	chromatin interactions
ENSG00000269646	chromatin interactions
ENSG00000160336	chromatin interactions
ENSG00000213793	chromatin interactions
ENSG00000198538	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000167766	chromatin interactions
ENSG00000180257	chromatin interactions
ENSG00000204604	chromatin interactions
ENSG00000182986	chromatin interactions
ENSG00000213801	chromatin interactions

Extended variants
information (count: 6399 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:6399 , 50 per page) page: 1 2 3 4 5 6 7 ... 128

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10426358	chr19:53317001-53317002	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79092076	chr19:53317017-53317018	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs181718463	chr19:53317037-53317038	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs73067558	chr19:53317049-53317050	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs114158003	chr19:53317066-53317067	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs548450983	chr19:53317107-53317108	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs566590214	chr19:53317171-53317172	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs141561536	chr19:53317182-53317183	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs552042346	chr19:53317190-53317191	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs112820410	chr19:53317215-53317216	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs539103238	chr19:53317218-53317219	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs150909102	chr19:53317221-53317222	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs28760449	chr19:53317230-53317231	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs536985082	chr19:53317231-53317232	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs527589439	chr19:53317281-53317282	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs73592011	chr19:53317337-53317338	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs112288210	chr19:53317352-53317353	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs117804155	chr19:53317355-53317356	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs565302314	chr19:53317366-53317367	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs115459740	chr19:53317372-53317373	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs7260398	chr19:53317395-53317396	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs539548246	chr19:53317431-53317432	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs546264350	chr19:53317478-53317479	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs143986009	chr19:53317490-53317491	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs555299498	chr19:53317515-53317516	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs185893409	chr19:53317516-53317517	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs7246446	chr19:53317522-53317523	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs7245433	chr19:53317536-53317537	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs371962529	chr19:53317542-53317543	Weak transcription Strong transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs541086716	chr19:53317544-53317545	Weak transcription Strong transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs548234591	chr19:53317600-53317601	Weak transcription Strong transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs560542149	chr19:53317651-53317652	Weak transcription Strong transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs112164150	chr19:53317661-53317662	Weak transcription Strong transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs190195740	chr19:53317705-53317706	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs527553873	chr19:53317770-53317771	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs552367103	chr19:53317834-53317835	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs111635674	chr19:53317848-53317849	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs60135815	chr19:53317858-53317859	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs563164711	chr19:53317879-53317880	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs564479323	chr19:53317896-53317897	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs570633842	chr19:53317897-53317898	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs373909394	chr19:53317904-53317905	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs58437853	chr19:53317936-53317937	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs142200109	chr19:53317991-53317992	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs11666857	chr19:53317992-53317993	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs181451454	chr19:53317998-53317999	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs61645520	chr19:53317999-53318000	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs139795370	chr19:53318013-53318014	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs56808067	chr19:53318027-53318028	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs559133297	chr19:53318055-53318056	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	20877625	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:4347 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53296200-53324000	Weak transcription	Fetal Brain Male	brain
2	chr19:53306000-53324000	Weak transcription	Colon Smooth Muscle	Colon
3	chr19:53306600-53324000	Weak transcription	Psoas Muscle	Psoas
4	chr19:53308000-53319600	Weak transcription	HUVEC	blood vessel
5	chr19:53308200-53319200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:53308200-53320200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr19:53308200-53324000	Weak transcription	Fetal Kidney	kidney
8	chr19:53311000-53323600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr19:53311200-53320200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr19:53311400-53317600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:53311400-53323600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr19:53311400-53324000	Weak transcription	NHDF-Ad	bronchial
13	chr19:53311600-53317600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr19:53313400-53320800	Weak transcription	Brain Hippocampus Middle	brain
15	chr19:53313600-53324000	Weak transcription	Fetal Lung	lung
16	chr19:53313600-53324000	Weak transcription	Right Ventricle	heart
17	chr19:53313600-53324200	Weak transcription	Brain Substantia Nigra	brain
18	chr19:53313800-53317200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:53313800-53317200	Weak transcription	Left Ventricle	heart
20	chr19:53313800-53317200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr19:53313800-53317400	Weak transcription	Gastric	stomach
22	chr19:53313800-53317400	Weak transcription	Ovary	ovary
23	chr19:53313800-53317400	Weak transcription	Spleen	Spleen
24	chr19:53313800-53318000	Weak transcription	Osteobl	bone
25	chr19:53313800-53318400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr19:53313800-53320200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr19:53313800-53320200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr19:53313800-53321000	Weak transcription	NH-A	brain
29	chr19:53313800-53323600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr19:53313800-53323800	Weak transcription	Stomach Mucosa	stomach
31	chr19:53313800-53324000	Weak transcription	Brain Angular Gyrus	brain
32	chr19:53313800-53324000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr19:53313800-53324000	Weak transcription	HSMM	muscle
34	chr19:53313800-53324000	Weak transcription	NHLF	lung
35	chr19:53313800-53324200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr19:53314000-53317200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:53314000-53317200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr19:53314000-53317400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr19:53314000-53317400	Weak transcription	Esophagus	oesophagus
40	chr19:53314000-53317400	Weak transcription	Pancreas	Pancrea
41	chr19:53314000-53317400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr19:53314000-53317600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr19:53314000-53319200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr19:53314000-53319800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr19:53314000-53320000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr19:53314000-53320200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr19:53314000-53320200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr19:53314000-53320200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr19:53314000-53320200	Weak transcription	Fetal Muscle Leg	muscle
50	chr19:53314000-53320200	Weak transcription	Fetal Thymus	thymus

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