Variant report

Variant	nsv912323
Chromosome Location	chr19:53249347-53451291
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3263)
CpG islands
(count:3905)
Chromatin interactive
region (count:75)
LncRNA
region (count:59)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:53448491-53448825	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:53427687-53427726	K562	blood:	n/a	n/a
3	ARID3A	chr19:53439543-53440078	K562	blood:	n/a	n/a
4	ARID3A	chr19:53438785-53438996	K562	blood:	n/a	n/a
5	ATF1	chr19:53445658-53445970	K562	blood:	n/a	n/a
6	ATF1	chr19:53426298-53426976	K562	blood:	n/a	n/a
7	ATF1	chr19:53427511-53427796	K562	blood:	n/a	n/a
8	ATF1	chr19:53289778-53290273	K562	blood:	n/a	n/a
9	ATF1	chr19:53260119-53260246	K562	blood:	n/a	n/a
10	ATF1	chr19:53439468-53440101	K562	blood:	n/a	n/a
11	ATF2	chr19:53446151-53446509	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr19:53426188-53426746	GM12878	blood:	n/a	n/a
13	ATF2	chr19:53281984-53282357	GM12878	blood:	n/a	n/a
14	ATF3	chr19:53438666-53438971	K562	blood:	n/a	n/a
15	ATF3	chr19:53439515-53439954	K562	blood:	n/a	n/a
16	ATF3	chr19:53427509-53427761	K562	blood:	n/a	n/a
17	BACH1	chr19:53445548-53445553	K562	blood:	n/a	n/a
18	BACH1	chr19:53426374-53426640	K562	blood:	n/a	n/a
19	BACH1	chr19:53324738-53324945	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr19:53400547-53401042	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr19:53426291-53426669	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr19:53439760-53439843	K562	blood:	n/a	n/a
23	BACH1	chr19:53360719-53361014	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr19:53289805-53290074	H1-hESC	embryonic stem cell:	n/a	n/a
25	BATF	chr19:53439573-53440019	GM12878	blood:	n/a	chr19:53439829-53439840
26	BATF	chr19:53407016-53407286	GM12878	blood:	n/a	n/a
27	BATF	chr19:53336721-53337013	GM12878	blood:	n/a	chr19:53336917-53336927 chr19:53336913-53336923 chr19:53336723-53336732 chr19:53336898-53336906
28	BATF	chr19:53281931-53282380	GM12878	blood:	n/a	chr19:53282197-53282207 chr19:53282192-53282203 chr19:53282193-53282203
29	BATF	chr19:53439647-53439948	GM12878	blood:	n/a	chr19:53439829-53439840
30	BATF	chr19:53445654-53445924	GM12878	blood:	n/a	n/a
31	BATF	chr19:53294643-53295039	GM12878	blood:	n/a	chr19:53294862-53294873 chr19:53294863-53294873 chr19:53294867-53294877
32	BATF	chr19:53336688-53337003	GM12878	blood:	n/a	chr19:53336917-53336927 chr19:53336913-53336923 chr19:53336723-53336732 chr19:53336898-53336906
33	BATF	chr19:53281917-53282463	GM12878	blood:	n/a	chr19:53282197-53282207 chr19:53282192-53282203 chr19:53282193-53282203
34	BATF	chr19:53294543-53294932	GM12878	blood:	n/a	chr19:53294862-53294873 chr19:53294863-53294873 chr19:53294867-53294877
35	BCL11A	chr19:53360679-53360916	GM12878	blood:	n/a	chr19:53360828-53360837
36	BCL11A	chr19:53282060-53282342	GM12878	blood:	n/a	chr19:53282195-53282204
37	BCL11A	chr19:53428812-53428959	GM12878	blood:	n/a	n/a
38	BCL11A	chr19:53362420-53362624	GM12878	blood:	n/a	n/a
39	BCL11A	chr19:53282016-53282371	GM12878	blood:	n/a	chr19:53282195-53282204
40	BCL3	chr19:53426498-53426869	GM12878	blood:	n/a	chr19:53426812-53426821 chr19:53426810-53426823
41	BCL3	chr19:53439413-53440163	K562	blood:	n/a	n/a
42	BCLAF1	chr19:53426282-53426729	GM12878	blood:	n/a	chr19:53426424-53426433
43	BCLAF1	chr19:53289804-53290138	GM12878	blood:	n/a	n/a
44	BHLHE40	chr19:53289858-53290162	K562	blood:	n/a	chr19:53290133-53290149
45	BHLHE40	chr19:53426214-53426710	K562	blood:	n/a	n/a
46	BHLHE40	chr19:53439408-53439921	GM12878	blood:	n/a	n/a
47	BHLHE40	chr19:53426291-53426835	GM12878	blood:	n/a	n/a
48	BHLHE40	chr19:53282085-53282438	GM12878	blood:	n/a	n/a
49	BHLHE40	chr19:53324867-53324898	K562	blood:	n/a	n/a
50	BHLHE40	chr19:53289647-53290152	GM12878	blood:	n/a	chr19:53290133-53290149

(count:3905 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:53445693-53445743	GM12891	blood:	n/a
2	chr19:53445693-53445743	GM12891	blood:	n/a
3	chr19:53363482-53363532	CMK	blood:	n/a
4	chr19:53344366-53344416	SK-N-MC	brain:	n/a
5	chr19:53302456-53302506	Hela-S3	cervix:	n/a
6	chr19:53326219-53326269	HRE	kidney:	n/a
7	chr19:53359733-53359783	T-47D	breast:	n/a
8	chr19:53361164-53361214	GM19239	blood:	n/a
9	chr19:53361164-53361214	HEK293	kidney:	embryo
10	chr19:53445286-53445336	NH-A	brain:	n/a
11	chr19:53361448-53361498	A549	lung:	n/a
12	chr19:53290445-53290495	ECC-1	luminal epithelium:	n/a
13	chr19:53290312-53290362	Jurkat	blood:	n/a
14	chr19:53400933-53400983	HL-60	blood:	n/a
15	chr19:53290079-53290129	HEEpiC	esophagus:	n/a
16	chr19:53290147-53290197	Jurkat	blood:	n/a
17	chr19:53290102-53290152	SK-N-MC	brain:	n/a
18	chr19:53361448-53361498	HCPEpiC	choroid plexus:	n/a
19	chr19:53344366-53344416	AoSMC	blood vessel:	n/a
20	chr19:53395225-53395275	U87	brain:	n/a
21	chr19:53445971-53446021	GM19239	blood:	n/a
22	chr19:53403009-53403059	SKMC	muscle:	n/a
23	chr19:53395635-53395685	Hela-S3	cervix:	n/a
24	chr19:53445877-53445927	GM12891	blood:	n/a
25	chr19:53445971-53446021	NH-A	brain:	n/a
26	chr19:53426233-53426283	GM06990	blood:	n/a
27	chr19:53426388-53426438	BJ	skin:	n/a
28	chr19:53445693-53445743	AoSMC	blood vessel:	n/a
29	chr19:53449742-53449792	HRCEpiC	kidney:	n/a
30	chr19:53401204-53401254	HCT-116	colon:	n/a
31	chr19:53432372-53432422	ProgFib	skin:	n/a
32	chr19:53446053-53446103	MCF-7	breast:	n/a
33	chr19:53395635-53395685	Jurkat	blood:	n/a
34	chr19:53429005-53429055	AoSMC	blood vessel:	n/a
35	chr19:53401204-53401254	PrEC	prostate:	n/a
36	chr19:53289933-53289983	HRCEpiC	kidney:	n/a
37	chr19:53324278-53324328	HCT-116	colon:	n/a
38	chr19:53302456-53302506	MCF10A-Er-Src	breast:	n/a
39	chr19:53361164-53361214	NH-A	brain:	n/a
40	chr19:53445988-53446038	HEEpiC	esophagus:	n/a
41	chr19:53445797-53445847	HEEpiC	esophagus:	n/a
42	chr19:53361448-53361498	HL-60	blood:	n/a
43	chr19:53359733-53359783	Hepatocyte	liver:	n/a
44	chr19:53426388-53426438	T-47D	breast:	n/a
45	chr19:53432372-53432422	HCT-116	colon:	n/a
46	chr19:53401204-53401254	GM19239	blood:	n/a
47	chr19:53303448-53303498	AG09309	skin:	n/a
48	chr19:53360728-53360778	IMR90	lung:	fetal
49	chr19:53325913-53325963	GM19239	blood:	n/a
50	chr19:53324198-53324248	PFSK-1	brain:	n/a

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No.	Distal block	Cell Line	Cell type
1	chr19:53335113..53339470-chr19:53340101..53344099,5	K562	blood:
2	chr19:53284850..53287271-chr19:53288897..53290598,2	MCF-7	breast:
3	chr19:53377771..53379611-chr19:53399736..53401870,2	K562	blood:
4	chr19:53399445..53402130-chr19:53440139..53442366,2	K562	blood:
5	chr19:53448312..53450113-chr19:53462746..53464266,2	K562	blood:
6	chr19:53193334..53193838-chr19:53445297..53445972,2	Hela-S3	cervix:
7	chr19:53398338..53401958-chr19:53425181..53428572,6	K562	blood:
8	chr19:53425636..53428538-chr19:53430721..53433929,3	K562	blood:
9	chr19:53193532..53195862-chr19:53359115..53361191,3	K562	blood:
10	chr19:53322321..53326212-chr19:53359240..53361245,4	K562	blood:
11	chr19:53380234..53382987-chr19:53399088..53400987,2	K562	blood:
12	chr19:53424714..53426568-chr19:53443432..53446550,3	MCF-7	breast:
13	chr19:53424791..53427731-chr19:53464365..53467863,4	K562	blood:
14	chr19:53412333..53414642-chr19:53425536..53427807,2	K562	blood:
15	chr19:53438104..53442400-chr19:53444179..53446884,10	K562	blood:
16	chr19:53399773..53402425-chr19:53424830..53427617,2	MCF-7	breast:
17	chr19:53357060..53358583-chr19:53400479..53402706,2	MCF-7	breast:
18	chr19:53426133..53428640-chr19:53444456..53447019,4	K562	blood:
19	chr11:62608903..62609637-chr19:53426135..53426686,2	Hela-S3	cervix:
20	chr19:53398338..53401958-chr19:53425181..53428572,6	K562	blood:
21	chr19:53324497..53325251-chr19:53360339..53360857,4	MCF-7	breast:
22	chr19:53399145..53401987-chr19:53438300..53441406,3	K562	blood:
23	chr19:53431907..53434266-chr19:53444043..53446544,2	K562	blood:
24	chr19:53398338..53403121-chr19:53425170..53428184,6	K562	blood:
25	chr19:53399773..53402425-chr19:53424830..53427617,2	MCF-7	breast:
26	chr19:53324392..53324894-chr19:53934932..53935516,2	MCF-7	breast:
27	chr19:53397070..53398594-chr19:53398820..53400571,2	MCF-7	breast:
28	chr19:53391514..53397028-chr19:53398889..53402751,6	K562	blood:
29	chr19:53399381..53402083-chr19:53412934..53414945,2	K562	blood:
30	chr19:53359564..53361265-chr19:53424872..53426783,2	MCF-7	breast:
31	chr19:53398857..53399725-chr3:31226625..31227200,2	MCF-7	breast:
32	chr19:53288948..53291766-chr19:53301308..53304079,2	K562	blood:
33	chr19:53338835..53341536-chr19:53343202..53344870,2	K562	blood:
34	chr19:53425069..53426727-chr19:53438910..53441039,3	K562	blood:
35	chr19:53338835..53341536-chr19:53343202..53344870,2	K562	blood:
36	chr19:53426133..53428140-chr19:53445241..53446971,2	K562	blood:
37	chr19:53398490..53401733-chr19:53415760..53419901,4	K562	blood:
38	chr19:53437779..53441076-chr19:53444311..53446958,6	K562	blood:
39	chr19:53400711..53402486-chr19:53463191..53466156,2	K562	blood:
40	chr19:53400554..53402197-chr19:53402529..53405491,2	MCF-7	breast:
41	chr19:53296635..53299410-chr19:53311177..53313587,2	K562	blood:
42	chr18:61637223..61637841-chr19:53397208..53398194,2	Hela-S3	cervix:
43	chr19:53398338..53403121-chr19:53425170..53428184,6	K562	blood:
44	chr19:53419869..53422803-chr19:53423217..53426977,4	K562	blood:
45	chr19:53390480..53393412-chr19:53415932..53418277,2	K562	blood:
46	chr19:53451271..53453320-chr19:53454303..53456994,2	K562	blood:
47	chr19:53390480..53393412-chr19:53415932..53418277,2	K562	blood:
48	chr19:53431907..53434266-chr19:53444043..53446544,2	K562	blood:
49	chr19:53322321..53326212-chr19:53359240..53361245,4	K562	blood:
50	chr19:53335113..53339470-chr19:53340101..53344099,5	K562	blood:

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No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF320-2	chr19:53396637-53396872	NONHSAT067594
2	lnc-ZNF320-2	chr19:53397032-53397109	NONHSAT067595
3	lnc-ZNF468-3	chr19:53311129-53311386	NONHSAT067588
4	lnc-ZNF468-1	chr19:53360825-53360902	NR_102299
5	lnc-ZNF816-1	chr19:53430388-53432667	NR_037805
6	lnc-ZNF468-1	chr19:53357511-53357598	NR_102301
7	lnc-ZNF600-1	chr19:53284570-53284717	NONHSAT067583
8	lnc-ZNF320-3	chr19:53367175-53367412	NONHSAT067592
9	lnc-ZNF320-3	chr19:53382704-53382886	NONHSAT067592
10	lnc-ZNF468-1	chr19:53357511-53357598	NR_102299
11	lnc-ZNF468-1	chr19:53357125-53357360	NR_102300
12	lnc-ZNF701-2	chr19:53301030-53301858	NONHSAT067586
13	lnc-ZNF468-1	chr19:53341785-53345404	NR_102300
14	lnc-ZNF701-2	chr19:53300917-53301869	NONHSAT067585
15	lnc-ZNF320-2	chr19:53393562-53393581	NONHSAT067595
16	lnc-ZNF468-1	chr19:53341785-53345404	NR_102301
17	lnc-ZNF320-2	chr19:53398644-53399035	NONHSAT067597
18	lnc-ZNF320-2	chr19:53400773-53400908	NONHSAT067594
19	lnc-ZNF468-1	chr19:53357511-53357598	NR_102300
20	lnc-ZNF320-2	chr19:53400773-53400902	NONHSAT067595
21	lnc-ZNF816-1	chr19:53445794-53445847	NR_037805
22	lnc-ZNF600-1	chr19:53284245-53284717	NONHSAT067584
23	lnc-ZNF320-2	chr19:53394513-53394599	NONHSAT067596
24	lnc-ZNF320-3	chr19:53377245-53377325	NONHSAT067591
25	lnc-ZNF468-2	chr19:53365060-53366119	NONHSAT067590
26	lnc-ZNF320-1	chr19:53379431-53379838	NONHSAT067593
27	lnc-ZNF468-1	chr19:53348432-53348549	NR_102299
28	lnc-ZNF468-1	chr19:53352340-53352466	NR_102300
29	lnc-ZNF320-1	chr19:53398098-53398409	NONHSAT067593
30	lnc-ZNF468-1	chr19:53360825-53360902	NR_102301
31	lnc-ZNF320-3	chr19:53377245-53377325	NONHSAT067592
32	lnc-ZNF468-1	chr19:53341785-53345404	NR_102299
33	lnc-VN1R2-12	chr19:53426635-53426717	ENSG00000269646.1
34	lnc-ZNF468-1	chr19:53348432-53348549	NR_102300
35	lnc-ZNF320-2	chr19:53394482-53394599	NONHSAT067595
36	lnc-ZNF468-1	chr19:53357125-53357379	NR_102301
37	lnc-ZNF468-3	chr19:53321197-53321284	NONHSAT067588
38	lnc-ZNF468-3	chr19:53321197-53321281	NONHSAT067589
39	lnc-ZNF468-3	chr19:53317537-53317679	NONHSAT067589
40	lnc-ZNF600-1	chr19:53289848-53290044	NONHSAT067582
41	lnc-ZNF468-1	chr19:53352340-53352466	NR_102299
42	lnc-ZNF320-3	chr19:53377411-53377490	NONHSAT067591
43	lnc-ZNF600-1	chr19:53289848-53290024	NONHSAT067584
44	lnc-ZNF320-3	chr19:53367043-53367412	NONHSAT067591
45	lnc-ZNF320-2	chr19:53397032-53397174	NONHSAT067596
46	lnc-ZNF320-2	chr19:53400773-53400888	NONHSAT067597
47	lnc-ZNF600-1	chr19:53283906-53284308	NONHSAT067582
48	lnc-ZNF701-2	chr19:53450758-53450863	ucscGeneNc_uc002pik_2
49	lnc-ZNF320-2	chr19:53396637-53396872	NONHSAT067595
50	lnc-ZNF468-1	chr19:53352340-53352466	NR_102301

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	ZNF320	hsa-miR-192-5p	chr19:53381440-53381461
2	ZNF28	hsa-miR-155-5p	chr19:53301652-53301677
3	ZNF28	hsa-miR-155-5p	chr19:53301585-53301611

Variant related genes	Relation type
ENSG00000268225	TF binding region
ZNF320	TF binding region
ZNF28	TF binding region
ZNF468	TF binding region
ENSG00000269646	TF binding region
ENSG00000255875	TF binding region
ZNF888	TF binding region
ZNF600	TF binding region
ZNF816-ZNF321P	TF binding region
ZNF816	TF binding region
ENSG00000268225	CpG island
ZNF320	CpG island
ZNF28	CpG island
ZNF468	CpG island
ENSG00000269646	CpG island
ENSG00000255875	CpG island
ZNF888	CpG island
ZNF600	CpG island
ZNF816-ZNF321P	CpG island
ZNF816	CpG island
ENSG00000182986	chromatin interactions
ENSG00000255875	chromatin interactions
ENSG00000198538	chromatin interactions
ENSG00000213801	chromatin interactions
ENSG00000241015	chromatin interactions
ENSG00000180257	chromatin interactions
ENSG00000221874	chromatin interactions
ENSG00000160336	chromatin interactions
ENSG00000166401	chromatin interactions
ENSG00000204611	chromatin interactions
ENSG00000269646	chromatin interactions
ENSG00000213793	chromatin interactions
ENSG00000189190	chromatin interactions
ENSG00000204604	chromatin interactions
ENSG00000167766	chromatin interactions
ENSG00000133316	chromatin interactions
LMNB1	miRNA target sites
PCBP2	miRNA target sites
HAUS6	miRNA target sites

Extended variants
information (count: 10584 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:10584 , 50 per page) page: 1 2 3 4 5 6 7 ... 212

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7249213	chr19:53249347-53249348	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs12459521	chr19:53249362-53249363	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs191173390	chr19:53249388-53249389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555424356	chr19:53249417-53249418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573583937	chr19:53249444-53249445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12459539	chr19:53249480-53249481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs553031568	chr19:53249485-53249486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182640606	chr19:53249507-53249508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373361018	chr19:53249573-53249574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78000891	chr19:53249589-53249590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150139744	chr19:53249592-53249593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13343798	chr19:53249598-53249599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs12709927	chr19:53249632-53249633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs141835365	chr19:53249635-53249636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187766779	chr19:53249661-53249662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529313062	chr19:53249694-53249695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547780975	chr19:53249695-53249696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10408086	chr19:53249705-53249706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs10408647	chr19:53249720-53249721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs552068574	chr19:53249749-53249750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570295962	chr19:53249763-53249764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373890024	chr19:53249778-53249779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554438389	chr19:53249782-53249783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367975504	chr19:53249783-53249784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10409918	chr19:53249787-53249788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs139066723	chr19:53249873-53249874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567344293	chr19:53249877-53249878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555024660	chr19:53249886-53249887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534377397	chr19:53249907-53249908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113617753	chr19:53249915-53249916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577532882	chr19:53249928-53249929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112049376	chr19:53249934-53249935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577187559	chr19:53249937-53249938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544780546	chr19:53249946-53249947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538585267	chr19:53249952-53249953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556819077	chr19:53249962-53249963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371872992	chr19:53249963-53249964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112841133	chr19:53249978-53249979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574083111	chr19:53250013-53250014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541138392	chr19:53250014-53250015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559712696	chr19:53250019-53250020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192528562	chr19:53250033-53250034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73582515	chr19:53250077-53250078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs566938236	chr19:53250098-53250099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563968041	chr19:53250158-53250159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531167801	chr19:53250178-53250179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577394743	chr19:53250182-53250183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549562428	chr19:53250203-53250204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184759683	chr19:53250212-53250213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201106202	chr19:53250254-53250255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	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:6636 , 50 per page) page: 1 2 3 4 5 6 7 ... 133

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53239800-53251600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr19:53241400-53251800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr19:53242000-53251800	Weak transcription	Fetal Kidney	kidney
4	chr19:53246000-53251800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr19:53246200-53251800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:53247000-53251800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:53247000-53251800	Weak transcription	Placenta	Placenta
8	chr19:53247800-53249400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:53247800-53251800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:53248200-53252800	Weak transcription	K562	blood
11	chr19:53249000-53249400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:53249000-53249400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr19:53249200-53249400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr19:53249200-53249400	Enhancers	Primary T cells from cord blood	blood
15	chr19:53249400-53252600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr19:53249400-53254800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr19:53251600-53252400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr19:53251600-53252400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:53251800-53252000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:53251800-53252000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr19:53251800-53252000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:53251800-53252000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr19:53251800-53252000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:53251800-53252000	Enhancers	Brain Angular Gyrus	brain
25	chr19:53251800-53252000	Enhancers	Brain Hippocampus Middle	brain
26	chr19:53251800-53252000	Enhancers	Fetal Kidney	kidney
27	chr19:53251800-53252000	Enhancers	Fetal Muscle Leg	muscle
28	chr19:53251800-53252000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr19:53251800-53252200	Active TSS	H1 Cell Line	embryonic stem cell
30	chr19:53251800-53252200	Active TSS	H9 Cell Line	embryonic stem cell
31	chr19:53251800-53252200	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr19:53251800-53252200	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr19:53251800-53252200	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr19:53251800-53252200	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr19:53251800-53252200	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr19:53251800-53252200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr19:53251800-53252200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr19:53251800-53252200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:53251800-53252200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:53251800-53252200	Enhancers	Adipose Nuclei	Adipose
41	chr19:53251800-53252200	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr19:53251800-53252200	Enhancers	Colon Smooth Muscle	Colon
43	chr19:53251800-53252200	Enhancers	Pancreas	Pancrea
44	chr19:53251800-53252200	Active TSS	HepG2	liver
45	chr19:53251800-53252200	Enhancers	Osteobl	bone
46	chr19:53251800-53252400	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr19:53251800-53252400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:53251800-53252400	Enhancers	Fetal Lung	lung
49	chr19:53251800-53253000	Enhancers	Placenta	Placenta
50	chr19:53251800-53253200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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