Variant report

Variant	esv3319160
Chromosome Location	chr19:53361308-53446343
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1693)
CpG islands
(count:1954)
Chromatin interactive
region (count:50)
LncRNA
region (count:26)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1693 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:53439543-53440078	K562	blood:	n/a	n/a
2	ARID3A	chr19:53427687-53427726	K562	blood:	n/a	n/a
3	ARID3A	chr19:53438785-53438996	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	ATF1	chr19:53445658-53445970	K562	blood:	n/a	n/a
8	ATF2	chr19:53426188-53426746	GM12878	blood:	n/a	n/a
9	ATF2	chr19:53446151-53446509	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr19:53438666-53438971	K562	blood:	n/a	n/a
11	ATF3	chr19:53427509-53427761	K562	blood:	n/a	n/a
12	ATF3	chr19:53439515-53439954	K562	blood:	n/a	n/a
13	BACH1	chr19:53400547-53401042	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr19:53445548-53445553	K562	blood:	n/a	n/a
15	BACH1	chr19:53426374-53426640	K562	blood:	n/a	n/a
16	BACH1	chr19:53439760-53439843	K562	blood:	n/a	n/a
17	BACH1	chr19:53426291-53426669	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr19:53445654-53445924	GM12878	blood:	n/a	n/a
19	BATF	chr19:53439647-53439948	GM12878	blood:	n/a	chr19:53439829-53439840
20	BATF	chr19:53439573-53440019	GM12878	blood:	n/a	chr19:53439829-53439840
21	BATF	chr19:53407016-53407286	GM12878	blood:	n/a	n/a
22	BCL11A	chr19:53428812-53428959	GM12878	blood:	n/a	n/a
23	BCL11A	chr19:53362420-53362624	GM12878	blood:	n/a	n/a
24	BCL3	chr19:53439413-53440163	K562	blood:	n/a	n/a
25	BCL3	chr19:53426498-53426869	GM12878	blood:	n/a	chr19:53426812-53426821 chr19:53426810-53426823
26	BCLAF1	chr19:53426282-53426729	GM12878	blood:	n/a	chr19:53426424-53426433
27	BHLHE40	chr19:53445617-53445876	K562	blood:	n/a	n/a
28	BHLHE40	chr19:53400368-53401093	GM12878	blood:	n/a	n/a
29	BHLHE40	chr19:53446241-53446457	K562	blood:	n/a	n/a
30	BHLHE40	chr19:53445643-53445853	HepG2	liver:	n/a	n/a
31	BHLHE40	chr19:53439437-53440064	K562	blood:	n/a	n/a
32	BHLHE40	chr19:53427608-53427722	K562	blood:	n/a	n/a
33	BHLHE40	chr19:53439408-53439921	GM12878	blood:	n/a	n/a
34	BHLHE40	chr19:53446322-53446350	GM12878	blood:	n/a	n/a
35	BHLHE40	chr19:53445587-53445985	GM12878	blood:	n/a	n/a
36	BHLHE40	chr19:53376302-53376339	K562	blood:	n/a	n/a
37	BHLHE40	chr19:53401560-53401600	K562	blood:	n/a	n/a
38	BHLHE40	chr19:53400452-53401079	K562	blood:	n/a	n/a
39	BHLHE40	chr19:53426214-53426710	K562	blood:	n/a	n/a
40	BHLHE40	chr19:53426291-53426835	GM12878	blood:	n/a	n/a
41	BRCA1	chr19:53400246-53400961	H1-hESC	embryonic stem cell:	n/a	n/a
42	BRCA1	chr19:53426297-53426678	HepG2	liver:	n/a	n/a
43	BRCA1	chr19:53400551-53400898	GM12878	blood:	n/a	n/a
44	BRCA1	chr19:53446180-53446288	GM12878	blood:	n/a	n/a
45	BRCA1	chr19:53426170-53426696	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr19:53426334-53426571	GM12878	blood:	n/a	n/a
47	BRCA1	chr19:53400249-53401056	Hela-S3	cervix:	n/a	n/a
48	CBX3	chr19:53399712-53400079	K562	blood:	n/a	n/a
49	CBX3	chr19:53426096-53426809	K562	blood:	n/a	n/a
50	CBX3	chr19:53383913-53384365	K562	blood:	n/a	n/a

(count:1954 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:53432372-53432422	HPAEpiC	pulmonary alveolar:	n/a
2	chr19:53400778-53400828	HRE	kidney:	n/a
3	chr19:53432372-53432422	HPAEpiC	pulmonary alveolar:	n/a
4	chr19:53400778-53400828	HRE	kidney:	n/a
5	chr19:53395225-53395275	HEEpiC	esophagus:	n/a
6	chr19:53445884-53445934	HUVEC	blood vessel:	n/a
7	chr19:53362925-53362975	GM06990	blood:	n/a
8	chr19:53445693-53445743	ovcar-3	ovarian:	n/a
9	chr19:53394977-53395027	RPTEC	kidney:	n/a
10	chr19:53445884-53445934	HEK293	kidney:	embryo
11	chr19:53445797-53445847	HEEpiC	esophagus:	n/a
12	chr19:53430697-53430747	HAEpiC	amniotic membrane:	n/a
13	chr19:53446053-53446103	HRCEpiC	kidney:	n/a
14	chr19:53445988-53446038	H1-hESC	embryonic stem cell:	embryo
15	chr19:53426233-53426283	HCPEpiC	choroid plexus:	n/a
16	chr19:53445345-53445395	Hepatocyte	liver:	n/a
17	chr19:53445693-53445743	HL-60	blood:	n/a
18	chr19:53432372-53432422	AG09309	skin:	n/a
19	chr19:53394626-53394676	HCPEpiC	choroid plexus:	n/a
20	chr19:53446053-53446103	NH-A	brain:	n/a
21	chr19:53383549-53383599	NHDF-neo	bronchial:	n/a
22	chr19:53445286-53445336	GM12892	blood:	n/a
23	chr19:53426233-53426283	NHDF-neo	bronchial:	n/a
24	chr19:53401204-53401254	HL-60	blood:	n/a
25	chr19:53432372-53432422	HepG2	liver:	n/a
26	chr19:53445286-53445336	HUVEC	blood vessel:	n/a
27	chr19:53446053-53446103	HMEC	breast:	n/a
28	chr19:53445345-53445395	MCF-7	breast:	n/a
29	chr19:53445971-53446021	SAEC	small airway:	n/a
30	chr19:53445286-53445336	H1-hESC	embryonic stem cell:	embryo
31	chr19:53429005-53429055	IMR90	lung:	fetal
32	chr19:53403009-53403059	RPTEC	kidney:	n/a
33	chr19:53395225-53395275	AG09309	skin:	n/a
34	chr19:53429005-53429055	MCF-7	breast:	n/a
35	chr19:53445884-53445934	A549	lung:	n/a
36	chr19:53445886-53445936	U87	brain:	n/a
37	chr19:53430697-53430747	IMR90	lung:	fetal
38	chr19:53426388-53426438	AoSMC	blood vessel:	n/a
39	chr19:53445988-53446038	HCF	heart:	n/a
40	chr19:53445877-53445927	HCF	heart:	n/a
41	chr19:53445971-53446021	HMEC	breast:	n/a
42	chr19:53445886-53445936	MCF10A-Er-Src	breast:	n/a
43	chr19:53394977-53395027	HUVEC	blood vessel:	n/a
44	chr19:53394626-53394676	HNPCEpiC	eye:	n/a
45	chr19:53445345-53445395	HCM	heart:	n/a
46	chr19:53445884-53445934	SAEC	small airway:	n/a
47	chr19:53400778-53400828	HCM	heart:	n/a
48	chr19:53362925-53362975	HRCEpiC	kidney:	n/a
49	chr19:53426233-53426283	A549	lung:	n/a
50	chr19:53394626-53394676	BJ	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr19:53399773..53402425-chr19:53424830..53427617,2	MCF-7	breast:
2	chr18:61637223..61637841-chr19:53397208..53398194,2	Hela-S3	cervix:
3	chr19:53426133..53428640-chr19:53444456..53447019,4	K562	blood:
4	chr19:53399773..53402425-chr19:53424830..53427617,2	MCF-7	breast:
5	chr19:53393138..53396276-chr19:53398172..53401096,6	MCF-7	breast:
6	chr19:53426133..53428140-chr19:53445241..53446971,2	K562	blood:
7	chr19:53425069..53426727-chr19:53438910..53441039,3	K562	blood:
8	chr19:53431907..53434266-chr19:53444043..53446544,2	K562	blood:
9	chr19:53425636..53428538-chr19:53430721..53433929,3	K562	blood:
10	chr19:53390480..53393412-chr19:53415932..53418277,2	K562	blood:
11	chr19:53380234..53382987-chr19:53399088..53400987,2	K562	blood:
12	chr19:53426133..53428140-chr19:53445241..53446971,2	K562	blood:
13	chr19:53398338..53401958-chr19:53425181..53428572,6	K562	blood:
14	chr19:53400554..53402197-chr19:53402529..53405491,2	MCF-7	breast:
15	chr19:53390480..53393412-chr19:53415932..53418277,2	K562	blood:
16	chr19:53426133..53428640-chr19:53444456..53447019,4	K562	blood:
17	chr19:53391514..53397028-chr19:53398889..53402751,6	K562	blood:
18	chr19:53398338..53403121-chr19:53425170..53428184,6	K562	blood:
19	chr19:53399381..53402083-chr19:53412934..53414945,2	K562	blood:
20	chr19:53398338..53401958-chr19:53425181..53428572,6	K562	blood:
21	chr19:53399145..53401987-chr19:53438300..53441406,3	K562	blood:
22	chr19:53438104..53442400-chr19:53444179..53446884,10	K562	blood:
23	chr19:53431907..53434266-chr19:53444043..53446544,2	K562	blood:
24	chr19:53377771..53379611-chr19:53399736..53401870,2	K562	blood:
25	chr19:53419869..53422803-chr19:53423217..53426977,4	K562	blood:
26	chr19:53424975..53429001-chr19:53430174..53432512,3	K562	blood:
27	chr19:53359564..53361265-chr19:53424872..53426783,2	MCF-7	breast:
28	chr11:62608903..62609637-chr19:53426135..53426686,2	Hela-S3	cervix:
29	chr19:53399445..53402130-chr19:53440139..53442366,2	K562	blood:
30	chr19:53437779..53441076-chr19:53444311..53446958,6	K562	blood:
31	chr19:53398490..53401733-chr19:53415760..53419901,4	K562	blood:
32	chr19:53418400..53422745-chr19:53423096..53427800,7	K562	blood:
33	chr19:53359757..53362433-chr19:53464752..53467349,2	MCF-7	breast:
34	chr19:53393138..53396276-chr19:53398172..53401096,6	MCF-7	breast:
35	chr19:53425636..53428538-chr19:53430721..53433929,3	K562	blood:
36	chr19:53391514..53397028-chr19:53398889..53402751,6	K562	blood:
37	chr19:53400711..53402486-chr19:53463191..53466156,2	K562	blood:
38	chr19:53193334..53193838-chr19:53445297..53445972,2	Hela-S3	cervix:
39	chr19:53419869..53422803-chr19:53423217..53426977,4	K562	blood:
40	chr19:53412333..53414642-chr19:53425536..53427807,2	K562	blood:
41	chr19:53397070..53398594-chr19:53398820..53400571,2	MCF-7	breast:
42	chr19:53418400..53422745-chr19:53423096..53427800,7	K562	blood:
43	chr19:53434778..53437566-chr19:53444319..53447141,2	MCF-7	breast:
44	chr19:53398857..53399725-chr3:31226625..31227200,2	MCF-7	breast:
45	chr19:53398338..53403121-chr19:53425170..53428184,6	K562	blood:
46	chr19:52641745..52643247-chr19:53444441..53446806,2	MCF-7	breast:
47	chr19:53424849..53427676-chr19:53433481..53436897,3	K562	blood:
48	chr19:53424791..53427731-chr19:53464365..53467863,4	K562	blood:
49	chr19:53380234..53382987-chr19:53399088..53400987,2	K562	blood:
50	chr19:53424714..53426568-chr19:53443432..53446550,3	MCF-7	breast:

(count:26 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF320-3	chr19:53382704-53382886	NONHSAT067592
2	lnc-ZNF320-1	chr19:53398098-53398409	NONHSAT067593
3	lnc-ZNF320-2	chr19:53396637-53396872	NONHSAT067595
4	lnc-ZNF320-1	chr19:53379431-53379838	NONHSAT067593
5	lnc-ZNF816-1	chr19:53430388-53432667	NR_037805
6	lnc-ZNF320-2	chr19:53400773-53400902	NONHSAT067595
7	lnc-ZNF320-2	chr19:53398644-53399035	NONHSAT067597
8	lnc-ZNF320-2	chr19:53393562-53393581	NONHSAT067595
9	lnc-ZNF320-2	chr19:53394482-53394599	NONHSAT067594
10	lnc-ZNF320-2	chr19:53397032-53397174	NONHSAT067596
11	lnc-ZNF320-2	chr19:53397032-53397109	NONHSAT067595
12	lnc-ZNF320-3	chr19:53377245-53377325	NONHSAT067592
13	lnc-ZNF468-2	chr19:53365060-53366119	NONHSAT067590
14	lnc-ZNF320-2	chr19:53400773-53400908	NONHSAT067594
15	lnc-ZNF320-2	chr19:53400773-53400888	NONHSAT067597
16	lnc-VN1R2-12	chr19:53426926-53427328	ENSG00000269646.1
17	lnc-ZNF816-1	chr19:53445794-53445847	NR_037805
18	lnc-ZNF320-2	chr19:53394482-53394599	NONHSAT067595
19	lnc-ZNF320-3	chr19:53367043-53367412	NONHSAT067591
20	lnc-ZNF320-2	chr19:53394513-53394599	NONHSAT067596
21	lnc-ZNF320-2	chr19:53396637-53396872	NONHSAT067594
22	lnc-ZNF320-3	chr19:53377411-53377490	NONHSAT067591
23	lnc-VN1R2-12	chr19:53426635-53426717	ENSG00000269646.1
24	lnc-ZNF320-2	chr19:53393514-53393581	NONHSAT067594
25	lnc-ZNF320-3	chr19:53377245-53377325	NONHSAT067591
26	lnc-ZNF320-3	chr19:53367175-53367412	NONHSAT067592

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
ZNF816	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
ZNF816	CpG island
ENSG00000133316	chromatin interactions
ENSG00000204604	chromatin interactions
ENSG00000204611	chromatin interactions
ENSG00000182986	chromatin interactions
ENSG00000166401	chromatin interactions
ENSG00000269646	chromatin interactions
ENSG00000221874	chromatin interactions
ENSG00000180257	chromatin interactions
ENSG00000198538	chromatin interactions
ENSG00000213801	chromatin interactions
ENSG00000167766	chromatin interactions
ENSG00000213793	chromatin interactions

Extended variants
information (count: 4206 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:4206 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560871195	chr19:53361326-53361327	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs528152715	chr19:53361356-53361357	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs67642963	chr19:53361363-53361364	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs2869877	chr19:53361373-53361374	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs8100490	chr19:53361379-53361380	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs8100378	chr19:53361394-53361395	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs112773702	chr19:53361451-53361452	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs570295197	chr19:53361472-53361473	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs201008852	chr19:53361475-53361476	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs78682710	chr19:53361483-53361484	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs72132513	chr19:53361484-53361485	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs11670133	chr19:53361485-53361486	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs185326241	chr19:53361530-53361531	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs375698109	chr19:53361609-53361610	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs562148697	chr19:53361683-53361684	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs553031067	chr19:53361689-53361690	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs573795351	chr19:53361711-53361712	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs190222627	chr19:53361713-53361714	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs116600226	chr19:53361733-53361734	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs575450634	chr19:53361750-53361751	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs542953925	chr19:53361764-53361765	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs541218325	chr19:53361793-53361794	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs542186411	chr19:53361807-53361808	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs572873110	chr19:53361822-53361823	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs62117499	chr19:53361838-53361839	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs564977388	chr19:53361850-53361851	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs147345140	chr19:53361869-53361870	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs551922441	chr19:53361896-53361897	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs147026095	chr19:53361930-53361931	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs202226010	chr19:53361953-53361954	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs112927016	chr19:53361954-53361955	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs533220107	chr19:53361956-53361957	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs563731274	chr19:53361957-53361958	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs199620127	chr19:53361959-53361960	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs139048902	chr19:53361960-53361961	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs192760690	chr19:53361994-53361995	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs549253117	chr19:53362030-53362031	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs567649371	chr19:53362076-53362077	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs534683987	chr19:53362086-53362087	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs79117285	chr19:53362097-53362098	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs149467056	chr19:53362137-53362138	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs372625363	chr19:53362142-53362143	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs538760128	chr19:53362202-53362203	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs559204822	chr19:53362208-53362209	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs71335683	chr19:53362236-53362237	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs562972081	chr19:53362257-53362258	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs201367010	chr19:53362272-53362273	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs200752886	chr19:53362302-53362303	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs373140355	chr19:53362303-53362304	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs557078414	chr19:53362307-53362308	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

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
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
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	20877625	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:3299 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53360000-53361400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr19:53360000-53361400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr19:53360000-53361400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:53360000-53361400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:53360000-53361400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr19:53360000-53361400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr19:53360000-53361400	Active TSS	Brain Angular Gyrus	brain
8	chr19:53360000-53361400	Active TSS	Rectal Smooth Muscle	rectum
9	chr19:53360000-53361400	Active TSS	GM12878-XiMat	blood
10	chr19:53360000-53361400	Active TSS	NHLF	lung
11	chr19:53360000-53361600	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr19:53360000-53361600	Active TSS	Fetal Thymus	thymus
13	chr19:53360000-53361600	Active TSS	Psoas Muscle	Psoas
14	chr19:53360000-53361600	Active TSS	Right Ventricle	heart
15	chr19:53360000-53361600	Active TSS	Stomach Smooth Muscle	stomach
16	chr19:53360000-53361800	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr19:53360000-53361800	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr19:53360000-53361800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:53360000-53361800	Active TSS	Brain Hippocampus Middle	brain
20	chr19:53360000-53361800	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr19:53360000-53361800	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr19:53360000-53361800	Active TSS	Fetal Intestine Large	intestine
23	chr19:53360000-53361800	Active TSS	Fetal Intestine Small	intestine
24	chr19:53360000-53361800	Active TSS	Thymus	Thymus
25	chr19:53360200-53361400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:53360200-53361400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr19:53360200-53361400	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr19:53360200-53361400	Active TSS	Colon Smooth Muscle	Colon
29	chr19:53360200-53361400	Active TSS	Esophagus	oesophagus
30	chr19:53360200-53361400	Active TSS	Fetal Heart	heart
31	chr19:53360200-53361400	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr19:53360200-53361400	Active TSS	Small Intestine	intestine
33	chr19:53360200-53361400	Active TSS	Hela-S3	cervix
34	chr19:53360200-53361400	Active TSS	HSMM	muscle
35	chr19:53360200-53361600	Active TSS	Brain Substantia Nigra	brain
36	chr19:53360200-53361800	Active TSS	Brain Anterior Caudate	brain
37	chr19:53360200-53361800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr19:53360200-53361800	Active TSS	Pancreas	Pancrea
39	chr19:53360200-53361800	Active TSS	Right Atrium	heart
40	chr19:53360400-53361400	Active TSS	Aorta	Aorta
41	chr19:53360400-53361400	Active TSS	Fetal Brain Male	brain
42	chr19:53360400-53361800	Active TSS	Brain Cingulate Gyrus	brain
43	chr19:53360400-53361800	Active TSS	Fetal Kidney	kidney
44	chr19:53360400-53361800	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr19:53360800-53361400	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr19:53361000-53361400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr19:53361000-53361400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr19:53361000-53361400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr19:53361000-53361400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr19:53361000-53361400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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