Variant report

Variant	nsv912311
Chromosome Location	chr19:53103875-53212361
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2271)
CpG islands
(count:1835)
Chromatin interactive
region (count:62)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:2271 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:53193667-53194024	K562	blood:	n/a	n/a
2	ARID3A	chr19:53192381-53192469	K562	blood:	n/a	n/a
3	ARID3A	chr19:53161930-53162203	HepG2	liver:	n/a	n/a
4	ARID3A	chr19:53191096-53191296	K562	blood:	n/a	n/a
5	ARID3A	chr19:53168737-53169156	K562	blood:	n/a	n/a
6	ARID3A	chr19:53192180-53192511	HepG2	liver:	n/a	n/a
7	ARID3A	chr19:53141435-53141564	K562	blood:	n/a	n/a
8	ARID3A	chr19:53199511-53199604	HepG2	liver:	n/a	n/a
9	ARID3A	chr19:53104339-53104539	HepG2	liver:	n/a	n/a
10	ARID3A	chr19:53193641-53193781	HepG2	liver:	n/a	n/a
11	ARID3A	chr19:53195806-53196040	K562	blood:	n/a	n/a
12	ATF1	chr19:53150020-53150354	K562	blood:	n/a	n/a
13	ATF1	chr19:53193490-53194355	K562	blood:	n/a	n/a
14	ATF1	chr19:53168873-53169110	K562	blood:	n/a	n/a
15	ATF2	chr19:53141325-53141694	GM12878	blood:	n/a	n/a
16	ATF3	chr19:53168777-53169106	K562	blood:	n/a	n/a
17	ATF3	chr19:53194034-53194304	K562	blood:	n/a	n/a
18	BACH1	chr19:53104565-53104775	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr19:53141538-53141574	K562	blood:	n/a	n/a
20	BACH1	chr19:53115944-53116444	K562	blood:	n/a	n/a
21	BACH1	chr19:53193336-53193863	H1-hESC	embryonic stem cell:	n/a	n/a
22	BATF	chr19:53173308-53173530	GM12878	blood:	n/a	chr19:53173435-53173446 chr19:53173379-53173390
23	BCL11A	chr19:53143129-53143365	GM12878	blood:	n/a	n/a
24	BCL11A	chr19:53197538-53197794	GM12878	blood:	n/a	n/a
25	BCL11A	chr19:53194937-53195373	GM12878	blood:	n/a	n/a
26	BCL11A	chr19:53194989-53195320	GM12878	blood:	n/a	n/a
27	BCL11A	chr19:53173321-53173566	GM12878	blood:	n/a	n/a
28	BCL3	chr19:53173304-53173745	GM12878	blood:	n/a	n/a
29	BCL3	chr19:53168692-53169149	GM12878	blood:	n/a	n/a
30	BCL3	chr19:53173348-53173599	GM12878	blood:	n/a	n/a
31	BCLAF1	chr19:53141115-53141672	GM12878	blood:	n/a	chr19:53141336-53141345
32	BCLAF1	chr19:53193362-53193867	GM12878	blood:	n/a	chr19:53193813-53193826
33	BCLAF1	chr19:53141256-53141655	GM12878	blood:	n/a	chr19:53141336-53141345
34	BHLHE40	chr19:53104552-53104837	K562	blood:	n/a	n/a
35	BHLHE40	chr19:53193162-53194353	K562	blood:	n/a	chr19:53193865-53193881
36	BHLHE40	chr19:53194652-53194696	K562	blood:	n/a	n/a
37	BHLHE40	chr19:53141339-53141678	K562	blood:	n/a	n/a
38	BHLHE40	chr19:53195726-53196072	K562	blood:	n/a	n/a
39	BHLHE40	chr19:53193397-53194098	GM12878	blood:	n/a	chr19:53193865-53193881
40	BHLHE40	chr19:53194976-53195415	GM12878	blood:	n/a	n/a
41	BHLHE40	chr19:53105048-53105160	K562	blood:	n/a	n/a
42	BHLHE40	chr19:53141335-53141727	GM12878	blood:	n/a	n/a
43	BHLHE40	chr19:53195775-53196073	GM12878	blood:	n/a	n/a
44	BRCA1	chr19:53104242-53104408	H1-hESC	embryonic stem cell:	n/a	n/a
45	BRCA1	chr19:53193363-53193993	Hela-S3	cervix:	n/a	n/a
46	CBX3	chr19:53193513-53194817	K562	blood:	n/a	n/a
47	CBX3	chr19:53150055-53150488	HCT-116	colon:	n/a	n/a
48	CBX3	chr19:53173195-53173904	HCT-116	colon:	n/a	n/a
49	CBX3	chr19:53208757-53209318	K562	blood:	n/a	n/a
50	CBX3	chr19:53150111-53150413	K562	blood:	n/a	n/a

(count:1835 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:53107200-53107250	AG10803	skin:	n/a
2	chr19:53197405-53197455	MCF10A-Er-Src	breast:	n/a
3	chr19:53141394-53141444	HUVEC	blood vessel:	n/a
4	chr19:53142106-53142156	HepG2	liver:	n/a
5	chr19:53104398-53104448	HCPEpiC	choroid plexus:	n/a
6	chr19:53107200-53107250	AG10803	skin:	n/a
7	chr19:53197405-53197455	MCF10A-Er-Src	breast:	n/a
8	chr19:53141394-53141444	HUVEC	blood vessel:	n/a
9	chr19:53142106-53142156	HepG2	liver:	n/a
10	chr19:53104398-53104448	HCPEpiC	choroid plexus:	n/a
11	chr19:53142146-53142196	HL-60	blood:	n/a
12	chr19:53142304-53142354	GM06990	blood:	n/a
13	chr19:53141394-53141444	HCM	heart:	n/a
14	chr19:53141394-53141444	ovcar-3	ovarian:	n/a
15	chr19:53141372-53141422	AG04450	lung:	fetal
16	chr19:53104879-53104929	MCF10A-Er-Src	breast:	n/a
17	chr19:53193302-53193352	ovcar-3	ovarian:	n/a
18	chr19:53107200-53107250	A549	lung:	n/a
19	chr19:53194699-53194749	H1-hESC	embryonic stem cell:	embryo
20	chr19:53139159-53139209	PrEC	prostate:	n/a
21	chr19:53144247-53144297	AG04450	lung:	fetal
22	chr19:53194699-53194749	HMEC	breast:	n/a
23	chr19:53193944-53193994	HCPEpiC	choroid plexus:	n/a
24	chr19:53142304-53142354	SK-N-MC	brain:	n/a
25	chr19:53141394-53141444	GM12878	blood:	n/a
26	chr19:53104997-53105047	MCF-7	breast:	n/a
27	chr19:53194695-53194745	HRPEpiC	eye:	n/a
28	chr19:53139159-53139209	HRPEpiC	eye:	n/a
29	chr19:53117087-53117137	CMK	blood:	n/a
30	chr19:53141745-53141795	U87	brain:	n/a
31	chr19:53141372-53141422	GM12891	blood:	n/a
32	chr19:53193944-53193994	Hela-S3	cervix:	n/a
33	chr19:53117087-53117137	Jurkat	blood:	n/a
34	chr19:53207899-53207949	HMEC	breast:	n/a
35	chr19:53193302-53193352	HCF	heart:	n/a
36	chr19:53193938-53193988	NB4	blood:	n/a
37	chr19:53140973-53141023	NHDF-neo	bronchial:	n/a
38	chr19:53141394-53141444	SK-N-SH	brain:	n/a
39	chr19:53104195-53104245	HCF	heart:	n/a
40	chr19:53107200-53107250	Hepatocyte	liver:	n/a
41	chr19:53141394-53141444	Jurkat	blood:	n/a
42	chr19:53107200-53107250	PFSK-1	brain:	n/a
43	chr19:53104195-53104245	HRCEpiC	kidney:	n/a
44	chr19:53193302-53193352	HL-60	blood:	n/a
45	chr19:53117087-53117137	HEK293	kidney:	embryo
46	chr19:53194124-53194174	HepG2	liver:	n/a
47	chr19:53141745-53141795	Hela-S3	cervix:	n/a
48	chr19:53193912-53193962	ProgFib	skin:	n/a
49	chr19:53142106-53142156	ECC-1	luminal epithelium:	n/a
50	chr19:53107200-53107250	HL-60	blood:	n/a

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:53193334..53193838-chr19:53445297..53445972,2	Hela-S3	cervix:
2	chr19:52771721..52774334-chr19:53104602..53106334,2	MCF-7	breast:
3	chr19:53161300..53164636-chr19:53165227..53168992,3	K562	blood:
4	chr19:53177587..53179889-chr19:53180855..53183073,2	K562	blood:
5	chr19:53109944..53111454-chr19:53116244..53117812,2	K562	blood:
6	chr19:53139623..53144311-chr19:53192220..53194807,4	MCF-7	breast:
7	chr19:53138548..53141148-chr19:53148838..53150932,2	K562	blood:
8	chr19:53098815..53100632-chr19:53103081..53105260,2	K562	blood:
9	chr19:53109944..53111454-chr19:53116244..53117812,2	K562	blood:
10	chr19:53170186..53171994-chr19:53174375..53177795,3	K562	blood:
11	chr19:53115970..53118193-chr19:53236786..53238588,2	K562	blood:
12	chr19:53109653..53111853-chr19:53175457..53178162,2	K562	blood:
13	chr19:53167030..53169267-chr19:53236508..53239018,2	K562	blood:
14	chr19:53199473..53201886-chr19:53208932..53211700,2	K562	blood:
15	chr19:53170186..53171994-chr19:53174375..53177795,3	K562	blood:
16	chr19:53139623..53144311-chr19:53192220..53194807,4	MCF-7	breast:
17	chr19:53178289..53180774-chr19:53181913..53184015,2	K562	blood:
18	chr19:53199473..53201886-chr19:53208932..53211700,2	K562	blood:
19	chr19:53169045..53171439-chr19:53172531..53174974,2	K562	blood:
20	chr19:53149533..53152778-chr19:53154420..53157722,3	K562	blood:
21	chr19:53148354..53151033-chr19:53154176..53155920,2	K562	blood:
22	chr19:53141360..53143345-chr19:53143350..53145363,3	K562	blood:
23	chr19:53181410..53183710-chr19:53186655..53189133,2	MCF-7	breast:
24	chr19:53109871..53112715-chr19:53114135..53116216,3	K562	blood:
25	chr19:53098492..53100632-chr19:53102754..53104581,2	K562	blood:
26	chr19:53110675..53112715-chr19:53114135..53115659,2	K562	blood:
27	chr19:53128911..53130963-chr19:53136725..53138232,2	K562	blood:
28	chr19:53109871..53112715-chr19:53114135..53116216,3	K562	blood:
29	chr19:53115087..53117490-chr19:53126115..53129040,2	K562	blood:
30	chr19:53103475..53106137-chr19:53106571..53108256,2	K562	blood:
31	chr19:53191910..53193662-chr19:53562323..53563875,2	K562	blood:
32	chr19:53105962..53107575-chr19:53107742..53110699,2	MCF-7	breast:
33	chr19:53185339..53188409-chr19:53192365..53195013,3	K562	blood:
34	chr19:53104394..53106484-chr19:53154672..53157186,2	K562	blood:
35	chr19:53148354..53151033-chr19:53154176..53155920,2	K562	blood:
36	chr19:53124557..53126496-chr19:53127801..53130626,2	K562	blood:
37	chr19:53178289..53180774-chr19:53181913..53184015,2	K562	blood:
38	chr19:53143960..53145524-chr19:53164055..53166816,2	K562	blood:
39	chr19:53124557..53126496-chr19:53127801..53130626,2	K562	blood:
40	chr19:53169045..53171439-chr19:53172531..53174974,2	K562	blood:
41	chr19:53030382..53031999-chr19:53102744..53106373,4	K562	blood:
42	chr10:79800834..79801581-chr19:53103963..53104926,2	Hela-S3	cervix:
43	chr19:53091479..53093203-chr19:53104357..53107211,2	MCF-7	breast:
44	chr19:53110675..53112715-chr19:53114135..53115659,2	K562	blood:
45	chr19:53100919..53102551-chr19:53104466..53106179,2	MCF-7	breast:
46	chr19:53185339..53187127-chr19:53191376..53195013,3	K562	blood:
47	chr19:53193667..53194241-chr2:61403847..61404574,2	NB4	blood:
48	chr19:53140133..53142689-chr19:53604558..53606639,2	MCF-7	breast:
49	chr19:53109653..53111853-chr19:53175457..53178162,2	K562	blood:
50	chr19:53103475..53106137-chr19:53106571..53108256,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF83-3	chr19:53211674-53212084	NONHSAT067577
2	lnc-ZNF83-3	chr19:53211457-53211582	NONHSAT067577
3	lnc-ZNF611-1	chr19:53153690-53156537	ENSG00000269825.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	ZNF83	hsa-miR-155-5p	chr19:53116240-53116261
2	ZNF83	hsa-miR-155-5p	chr19:53115871-53115891
3	ZNF611	hsa-miR-155-5p	chr19:53207486-53207509

Variant related genes	Relation type
ENSG00000268970	TF binding region
ZNF611	TF binding region
ZNF83	TF binding region
ENSG00000269825	TF binding region
ENSG00000268970	CpG island
ZNF611	CpG island
ZNF83	CpG island
ENSG00000269825	CpG island
ENSG00000268970	chromatin interactions
ENSG00000167766	chromatin interactions
ENSG00000198093	chromatin interactions
ENSG00000198482	chromatin interactions
ENSG00000196214	chromatin interactions
ENSG00000213801	chromatin interactions
ENSG00000198538	chromatin interactions
ENSG00000173209	chromatin interactions
ENSG00000269825	chromatin interactions
ENSG00000204604	chromatin interactions
ENSG00000170949	chromatin interactions
ENSG00000123870	chromatin interactions
ENSG00000180257	chromatin interactions
ENSG00000213020	chromatin interactions

Extended variants
information (count: 5428 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:5428 , 50 per page) page: 1 2 3 4 5 6 7 ... 109

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12971484	chr19:53103875-53103876	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545672652	chr19:53103958-53103959	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs536674793	chr19:53103988-53103989	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs535324352	chr19:53103990-53103991	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs546780474	chr19:53103992-53103993	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs566183308	chr19:53104036-53104037	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs554926161	chr19:53104052-53104053	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs75588910	chr19:53104060-53104061	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs200135921	chr19:53104061-53104062	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs7260122	chr19:53104092-53104093	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs560314201	chr19:53104279-53104280	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs10426862	chr19:53104317-53104318	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs567938225	chr19:53104340-53104341	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs376941001	chr19:53104348-53104349	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs534914846	chr19:53104362-53104363	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs553102753	chr19:53104370-53104371	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs577338686	chr19:53104390-53104391	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs183363115	chr19:53104407-53104408	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs556617598	chr19:53104415-53104416	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs575197788	chr19:53104416-53104417	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs545702138	chr19:53104418-53104419	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs145374722	chr19:53104427-53104428	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs188889654	chr19:53104446-53104447	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs191586283	chr19:53104452-53104453	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs371484380	chr19:53104459-53104460	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs116244891	chr19:53104491-53104492	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs540456295	chr19:53104521-53104522	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs112189664	chr19:53104525-53104526	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs145239678	chr19:53104539-53104540	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs10402745	chr19:53104542-53104543	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs551929676	chr19:53104550-53104551	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs563797993	chr19:53104555-53104556	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs16984003	chr19:53104580-53104581	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs549319114	chr19:53104591-53104592	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs562029548	chr19:53104596-53104597	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs10401627	chr19:53104601-53104602	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs546874407	chr19:53104666-53104667	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs377216424	chr19:53104804-53104805	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs142600702	chr19:53104826-53104827	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs369983	chr19:53104930-53104931	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs556680123	chr19:53104939-53104940	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs575260860	chr19:53104958-53104959	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs183659277	chr19:53104988-53104989	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs554523805	chr19:53105016-53105017	Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs147727695	chr19:53105032-53105033	Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs573071801	chr19:53105117-53105118	Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs540566209	chr19:53105140-53105141	Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs565609779	chr19:53105146-53105147	Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs577153501	chr19:53105168-53105169	Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs527254284	chr19:53105173-53105174	Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Adrenocortical carcinoma	18281524	CNVD

Chromatin state (count:4055 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53091000-53104200	Weak transcription	Spleen	Spleen
2	chr19:53096000-53104000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:53099600-53104000	Weak transcription	Ovary	ovary
4	chr19:53100000-53104200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:53101000-53104200	Weak transcription	Small Intestine	intestine
6	chr19:53101800-53104000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:53103000-53104000	Enhancers	Fetal Lung	lung
8	chr19:53103400-53104000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:53103400-53104000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:53103400-53104000	Enhancers	Placenta Amnion	Placenta Amnion
11	chr19:53103400-53104000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr19:53103400-53104200	Flanking Active TSS	Dnd41	blood
13	chr19:53103400-53105200	Active TSS	HSMMtube	muscle
14	chr19:53103400-53105600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr19:53103600-53104000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
16	chr19:53103600-53104000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr19:53103600-53104000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr19:53103600-53104000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:53103600-53104000	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr19:53103600-53104000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr19:53103600-53104000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr19:53103600-53104000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr19:53103600-53104000	Enhancers	Brain Angular Gyrus	brain
24	chr19:53103600-53104000	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr19:53103600-53104000	Flanking Active TSS	Fetal Intestine Small	intestine
26	chr19:53103600-53104000	Enhancers	Gastric	stomach
27	chr19:53103600-53104000	Enhancers	Left Ventricle	heart
28	chr19:53103600-53104000	Enhancers	Lung	lung
29	chr19:53103600-53104000	Enhancers	Pancreas	Pancrea
30	chr19:53103600-53104000	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr19:53103600-53104000	Enhancers	Stomach Mucosa	stomach
32	chr19:53103600-53104200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:53103600-53104200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr19:53103600-53104200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:53103600-53104200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr19:53103600-53104200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr19:53103600-53104200	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr19:53103600-53104200	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr19:53103600-53104600	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr19:53103600-53104800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr19:53103600-53105000	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr19:53103600-53105000	Active TSS	Colonic Mucosa	Colon
43	chr19:53103600-53105200	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr19:53103600-53105600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr19:53103600-53105800	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr19:53103800-53104000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr19:53103800-53104000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr19:53103800-53104000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr19:53103800-53104000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:53103800-53104000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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