Variant report

Variant	nsv1056146
Chromosome Location	chr19:52271018-52617390
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5984)
CpG islands
(count:7575)
Chromatin interactive
region (count:271)
LncRNA
region (count:104)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:52489958-52490423	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:52302554-52302890	K562	blood:	n/a	n/a
3	ARID3A	chr19:52407793-52408814	HepG2	liver:	n/a	n/a
4	ARID3A	chr19:52531399-52531960	HepG2	liver:	n/a	n/a
5	ARID3A	chr19:52333617-52333822	K562	blood:	n/a	n/a
6	ARID3A	chr19:52310240-52311002	K562	blood:	n/a	n/a
7	ARID3A	chr19:52313557-52313692	K562	blood:	n/a	n/a
8	ARID3A	chr19:52274862-52275001	K562	blood:	n/a	n/a
9	ARID3A	chr19:52303443-52304384	K562	blood:	n/a	n/a
10	ARID3A	chr19:52511381-52511632	HepG2	liver:	n/a	n/a
11	ARID3A	chr19:52311894-52312194	K562	blood:	n/a	n/a
12	ARID3A	chr19:52552024-52552805	HepG2	liver:	n/a	n/a
13	ARID3A	chr19:52298176-52298372	K562	blood:	n/a	n/a
14	ARID3A	chr19:52306606-52307609	K562	blood:	n/a	n/a
15	ARID3A	chr19:52313645-52313812	HepG2	liver:	n/a	n/a
16	ARID3A	chr19:52288166-52289145	K562	blood:	n/a	n/a
17	ARID3A	chr19:52281095-52281512	K562	blood:	n/a	n/a
18	ARID3A	chr19:52299117-52300997	K562	blood:	n/a	n/a
19	ARID3A	chr19:52555017-52555116	HepG2	liver:	n/a	n/a
20	ARID3A	chr19:52308170-52308456	HepG2	liver:	n/a	n/a
21	ARID3A	chr19:52551838-52552062	K562	blood:	n/a	n/a
22	ARID3A	chr19:52286712-52286989	K562	blood:	n/a	n/a
23	ARID3A	chr19:52408187-52408572	K562	blood:	n/a	n/a
24	ARID3A	chr19:52307809-52308459	K562	blood:	n/a	n/a
25	ARID3A	chr19:52407414-52407541	HepG2	liver:	n/a	n/a
26	ARID3A	chr19:52531625-52531875	K562	blood:	n/a	n/a
27	ARID3A	chr19:52603068-52603334	HepG2	liver:	n/a	n/a
28	ARID3A	chr19:52598763-52599031	HepG2	liver:	n/a	n/a
29	ATF1	chr19:52288144-52288776	K562	blood:	n/a	n/a
30	ATF1	chr19:52302531-52302910	K562	blood:	n/a	n/a
31	ATF1	chr19:52480697-52480890	K562	blood:	n/a	n/a
32	ATF1	chr19:52299358-52299816	K562	blood:	n/a	n/a
33	ATF1	chr19:52430091-52430806	K562	blood:	n/a	n/a
34	ATF1	chr19:52313567-52313801	K562	blood:	n/a	n/a
35	ATF1	chr19:52594171-52594249	K562	blood:	n/a	n/a
36	ATF1	chr19:52551777-52552810	K562	blood:	n/a	n/a
37	ATF1	chr19:52290370-52290609	K562	blood:	n/a	n/a
38	ATF1	chr19:52531294-52532287	K562	blood:	n/a	n/a
39	ATF1	chr19:52282997-52283290	K562	blood:	n/a	n/a
40	ATF1	chr19:52303528-52304254	K562	blood:	n/a	n/a
41	ATF1	chr19:52310327-52310825	K562	blood:	n/a	n/a
42	ATF1	chr19:52325702-52325884	K562	blood:	n/a	n/a
43	ATF1	chr19:52286699-52286989	K562	blood:	n/a	n/a
44	ATF1	chr19:52463795-52464169	K562	blood:	n/a	n/a
45	ATF1	chr19:52308082-52308473	K562	blood:	n/a	n/a
46	ATF2	chr19:52489925-52490372	GM12878	blood:	n/a	n/a
47	ATF2	chr19:52430166-52430836	H1-hESC	embryonic stem cell:	n/a	n/a
48	ATF2	chr19:52429861-52430848	H1-hESC	embryonic stem cell:	n/a	n/a
49	ATF2	chr19:52430063-52430883	GM12878	blood:	n/a	n/a
50	ATF2	chr19:52394261-52394851	H1-hESC	embryonic stem cell:	n/a	n/a

(count:7575 , 50 per page) page: 1 2 3 4 5 6 7 ... 152

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:52491114-52491164	NH-A	brain:	n/a
2	chr19:52490199-52490249	NH-A	brain:	n/a
3	chr19:52408350-52408400	HRCEpiC	kidney:	n/a
4	chr19:52297968-52298018	ProgFib	skin:	n/a
5	chr19:52489783-52489833	GM12891	blood:	n/a
6	chr19:52531703-52531753	NHBE	bronchial:	n/a
7	chr19:52552120-52552170	GM12878	blood:	n/a
8	chr19:52552120-52552170	AG04450	lung:	fetal
9	chr19:52552025-52552075	BJ	skin:	n/a
10	chr19:52408259-52408309	U87	brain:	n/a
11	chr19:52517812-52517862	AG10803	skin:	n/a
12	chr19:52491114-52491164	NH-A	brain:	n/a
13	chr19:52490199-52490249	NH-A	brain:	n/a
14	chr19:52408350-52408400	HRCEpiC	kidney:	n/a
15	chr19:52297968-52298018	ProgFib	skin:	n/a
16	chr19:52489783-52489833	GM12891	blood:	n/a
17	chr19:52531703-52531753	NHBE	bronchial:	n/a
18	chr19:52552120-52552170	GM12878	blood:	n/a
19	chr19:52552120-52552170	AG04450	lung:	fetal
20	chr19:52552025-52552075	BJ	skin:	n/a
21	chr19:52408259-52408309	U87	brain:	n/a
22	chr19:52517812-52517862	AG10803	skin:	n/a
23	chr19:52511285-52511335	Hela-S3	cervix:	n/a
24	chr19:52511591-52511641	HCF	heart:	n/a
25	chr19:52511726-52511776	Hela-S3	cervix:	n/a
26	chr19:52511726-52511776	HL-60	blood:	n/a
27	chr19:52452447-52452497	HPAEpiC	pulmonary alveolar:	n/a
28	chr19:52391234-52391284	HPAEpiC	pulmonary alveolar:	n/a
29	chr19:52531777-52531827	HIPEpiC	eye:	n/a
30	chr19:52517812-52517862	HCM	heart:	n/a
31	chr19:52490120-52490170	AoSMC	blood vessel:	n/a
32	chr19:52430630-52430680	SK-N-MC	brain:	n/a
33	chr19:52297519-52297569	SAEC	small airway:	n/a
34	chr19:52599232-52599282	BJ	skin:	n/a
35	chr19:52511285-52511335	Jurkat	blood:	n/a
36	chr19:52552120-52552170	NT2-D1	testis:	n/a
37	chr19:52302551-52302601	NH-A	brain:	n/a
38	chr19:52408371-52408421	H1-hESC	embryonic stem cell:	embryo
39	chr19:52408044-52408094	ovcar-3	ovarian:	n/a
40	chr19:52430378-52430428	HCF	heart:	n/a
41	chr19:52430630-52430680	ProgFib	skin:	n/a
42	chr19:52490120-52490170	U87	brain:	n/a
43	chr19:52599329-52599379	Jurkat	blood:	n/a
44	chr19:52507354-52507404	PFSK-1	brain:	n/a
45	chr19:52408336-52408386	MCF-7	breast:	n/a
46	chr19:52489829-52489879	GM12892	blood:	n/a
47	chr19:52551618-52551668	HRCEpiC	kidney:	n/a
48	chr19:52407630-52407680	A549	lung:	n/a
49	chr19:52452808-52452858	HAEpiC	amniotic membrane:	n/a
50	chr19:52430632-52430682	AG04450	lung:	fetal

(count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr19:52399338..52400982-chr19:52404085..52405641,2	K562	blood:
2	chr17:41464206..41466137-chr19:52468139..52469658,2	MCF-7	breast:
3	chr19:52049354..52051242-chr19:52535429..52537065,2	K562	blood:
4	chr19:52516083..52518649-chr19:52545291..52547420,2	K562	blood:
5	chr19:52583726..52585349-chr19:53074729..53076869,2	K562	blood:
6	chr19:52568955..52571795-chr19:52572107..52574961,2	MCF-7	breast:
7	chr19:52553424..52554983-chr19:52593022..52595719,2	K562	blood:
8	chr19:52421901..52424826-chr19:52448937..52450771,2	K562	blood:
9	chr19:52535058..52537289-chr19:52542112..52544789,2	K562	blood:
10	chr19:52339899..52342041-chr19:52352045..52353775,2	K562	blood:
11	chr19:52540490..52542920-chr19:52547882..52549646,2	K562	blood:
12	chr19:52399727..52401521-chr19:52425509..52427122,2	K562	blood:
13	chr19:52246232..52248265-chr19:52275684..52277593,2	K562	blood:
14	chr19:52287685..52291319-chr19:52309738..52312774,4	MCF-7	breast:
15	chr19:52430544..52433157-chr19:52531061..52533014,2	K562	blood:
16	chr19:52286503..52287282-chr19:52313444..52314004,2	MCF-7	breast:
17	chr19:52551561..52553801-chr19:52643165..52644706,2	K562	blood:
18	chr19:52597551..52599096-chr19:52643130..52644965,2	K562	blood:
19	chr19:52237851..52239794-chr19:52278357..52281103,2	K562	blood:
20	chr19:52522708..52525154-chr19:52535307..52537297,2	MCF-7	breast:
21	chr19:52216500..52217173-chr19:52286806..52287310,2	MCF-7	breast:
22	chr19:52347112..52349740-chr19:52362561..52364697,2	K562	blood:
23	chr19:52302303..52304352-chr19:52308836..52310824,2	K562	blood:
24	chr19:52192175..52194202-chr19:52301235..52302921,2	MCF-7	breast:
25	chr19:52473716..52475696-chr19:52475835..52477882,2	MCF-7	breast:
26	chr19:52339899..52342041-chr19:52352045..52353775,2	K562	blood:
27	chr19:52429682..52431408-chr19:52488412..52490236,2	MCF-7	breast:
28	chr19:52528365..52531189-chr19:52598052..52600435,2	K562	blood:
29	chr19:52401138..52403983-chr19:52534596..52536375,2	K562	blood:
30	chr19:52293197..52295427-chr19:52302350..52304718,2	K562	blood:
31	chr19:52295157..52297364-chr19:52306223..52308854,2	MCF-7	breast:
32	chr19:52588475..52590807-chr19:52591326..52593496,3	K562	blood:
33	chr19:52530218..52533559-chr19:52550553..52554398,9	K562	blood:
34	chr19:52286503..52287282-chr19:52313444..52314004,2	MCF-7	breast:
35	chr19:52485839..52488400-chr19:52537235..52539865,2	K562	blood:
36	chr19:52306935..52308670-chr19:52309140..52312015,2	K562	blood:
37	chr19:52505792..52508721-chr19:52508745..52510536,2	K562	blood:
38	chr17:41463656..41466304-chr19:52468139..52469659,2	K562	blood:
39	chr19:52438039..52439555-chr19:52451047..52453760,2	K562	blood:
40	chr19:52573383..52575411-chr19:52583910..52586423,2	K562	blood:
41	chr19:52577623..52579187-chr19:52581297..52583798,2	K562	blood:
42	chr19:52536419..52538277-chr19:52545256..52546905,2	MCF-7	breast:
43	chr19:52473716..52475696-chr19:52475835..52477882,2	MCF-7	breast:
44	chr19:52344484..52346538-chr19:52349352..52351510,2	K562	blood:
45	chr19:52226072..52228761-chr19:52312561..52315584,3	MCF-7	breast:
46	chr19:52536419..52538277-chr19:52545256..52546905,2	MCF-7	breast:
47	chr19:52351131..52353824-chr19:52364470..52367070,2	K562	blood:
48	chr19:52406520..52408589-chr19:52429418..52432281,3	K562	blood:
49	chr19:52575483..52578270-chr19:52584112..52586407,2	K562	blood:
50	chr19:52346478..52349117-chr19:52352769..52355551,2	K562	blood:

(count:104 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF577-2	chr19:52342867-52343370	NONHSAT067482
2	lnc-ZNF614-1	chr19:52507670-52507976	NONHSAT067506
3	lnc-ZNF616-1	chr19:52613571-52613979	NONHSAT067514
4	lnc-ZNF614-1	chr19:52511394-52511470	NONHSAT067506
5	lnc-ZNF613-6	chr19:52537716-52537830	NONHSAT067509
6	lnc-ZNF613-1	chr19:52484180-52484615	NONHSAT067500
7	lnc-ZNF613-1	chr19:52479644-52479826	NR_103847
8	lnc-ZNF649-3	chr19:52359057-52359220	NONHSAT067486
9	lnc-ZNF577-2	chr19:52343024-52343132	ENSG00000268316.1
10	lnc-ZNF613-4	chr19:52399414-52399549	ENSG00000268095.1
11	lnc-ZNF841-1	chr19:52566900-52566956	ENSG00000249246
12	lnc-ZNF577-2	chr19:52346074-52346168	NONHSAT067481
13	lnc-ZNF649-3	chr19:52391007-52391188	NONHSAT067489
14	lnc-ZNF649-3	chr19:52391085-52391189	NONHSAT067485
15	lnc-ZNF649-3	chr19:52383951-52384130	NONHSAT067490
16	lnc-ZNF841-2	chr19:52598828-52598991	NONHSAT067511
17	lnc-ZNF613-2	chr19:52569769-52570821	ENSG00000245697
18	lnc-ZNF649-3	chr19:52359056-52359220	NONHSAT067485
19	lnc-ZNF432-1	chr19:52579297-52579642	NONHSAT067513
20	lnc-ZNF613-1	chr19:52474396-52474419	NONHSAT067501
21	lnc-ZNF613-1	chr19:52479644-52479826	ENSG00000269235.1
22	lnc-ZNF613-1	chr19:52479414-52479826	NONHSAT067503
23	lnc-ZNF577-2	chr19:52343177-52343370	ENSG00000269483.1
24	lnc-ZNF613-1	chr19:52479644-52479826	NONHSAT067498
25	lnc-ZNF649-3	chr19:52381642-52381768	NR_024181
26	lnc-ZNF613-1	chr19:52484180-52484620	NR_103847
27	lnc-ZNF577-2	chr19:52346074-52346166	ENSG00000269483.1
28	lnc-ZNF613-2	chr19:52567872-52568844	ENSG00000245697
29	lnc-ZNF841-1	chr19:52566900-52566956	ENSG00000260160.1
30	lnc-ZNF613-1	chr19:52452415-52452488	ENSG00000269235.1
31	lnc-FPR1-1	chr19:52282890-52283234	XLOC_013388
32	lnc-ZNF613-1	chr19:52479384-52479596	NONHSAT067499
33	lnc-ZNF432-1	chr19:52570752-52570863	NONHSAT067513
34	lnc-ZNF614-1	chr19:52507670-52508102	NONHSAT067507
35	lnc-ZNF649-1	chr19:52424420-52424951	expReg_chr19_7234_-
36	lnc-ZNF649-3	chr19:52364157-52364231	NONHSAT067486
37	lnc-ZNF577-3	chr19:52307980-52308424	NONHSAT067478
38	lnc-ZNF613-1	chr19:52484180-52484598	NONHSAT067503
39	lnc-ZNF613-1	chr19:52452387-52452488	NR_103847
40	lnc-ZNF614-1	chr19:52507035-52507153	NONHSAT067506
41	lnc-ZNF577-1	chr19:52400105-52400472	NONHSAT067493
42	lnc-FPR1-1	chr19:52284430-52284599	NONHSAT067476
43	lnc-ZNF649-3	chr19:52390841-52391144	NONHSAT067491
44	lnc-ZNF613-1	chr19:52479644-52479826	ENSG00000246125
45	lnc-ZNF613-1	chr19:52479644-52479826	NONHSAT067500
46	lnc-FPR1-1	chr19:52284430-52284578	XLOC_013388
47	lnc-ZNF649-3	chr19:52359063-52359220	NONHSAT067488
48	lnc-ZNF613-1	chr19:52479644-52480118	ENSG00000269235.1
49	lnc-ZNF577-3	chr19:52314710-52314992	NONHSAT067478
50	lnc-ZNF613-1	chr19:52452415-52452488	ENSG00000246125

No data

Variant related genes	Relation type
ZNF649	TF binding region
ZNF841	TF binding region
ZNF614	TF binding region
ZNF577	TF binding region
HCCAT3	TF binding region
ENSG00000260160	TF binding region
ENSG00000269483	TF binding region
ENSG00000268316	TF binding region
FPR1	TF binding region
ENSG00000270248	TF binding region
ZNF613	TF binding region
FPR2	TF binding region
ZNF350	TF binding region
FPR3	TF binding region
ENSG00000268095	TF binding region
ZNF615	TF binding region
ZNF432	TF binding region
ZNF649	CpG island
ZNF841	CpG island
ZNF614	CpG island
ZNF577	CpG island
HCCAT3	CpG island
ENSG00000260160	CpG island
ENSG00000269483	CpG island
ENSG00000268316	CpG island
FPR1	CpG island
ENSG00000270248	CpG island
ZNF613	CpG island
FPR2	CpG island
ZNF350	CpG island
FPR3	CpG island
ENSG00000268095	CpG island
ZNF615	CpG island
ZNF432	CpG island
ENSG00000105568	chromatin interactions
ENSG00000104343	chromatin interactions
ENSG00000142556	chromatin interactions
ENSG00000269403	chromatin interactions
ENSG00000176024	chromatin interactions
ENSG00000259669	chromatin interactions
ENSG00000196214	chromatin interactions
ENSG00000256087	chromatin interactions
ENSG00000105509	chromatin interactions
ENSG00000161551	chromatin interactions
ENSG00000197619	chromatin interactions
ENSG00000122958	chromatin interactions
ENSG00000268458	chromatin interactions
ENSG00000238486	chromatin interactions
ENSG00000197608	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000269235	chromatin interactions
ENSG00000187474	chromatin interactions
ENSG00000160318	chromatin interactions
ENSG00000171049	chromatin interactions
ENSG00000171051	chromatin interactions
ENSG00000182310	chromatin interactions
ENSG00000269483	chromatin interactions
ENSG00000268095	chromatin interactions
ENSG00000243680	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000204611	chromatin interactions
ENSG00000256683	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000198093	chromatin interactions
SUSD1	miRNA target sites
YTHDC2	miRNA target sites
GIGYF1	miRNA target sites
EIF2AK1	miRNA target sites
CAMTA1	miRNA target sites
PIGT	miRNA target sites
MRPL10	miRNA target sites
IGSF1	miRNA target sites
HIF1A	miRNA target sites
NCBP2	miRNA target sites
TWF1	miRNA target sites
OSBPL11	miRNA target sites

Extended variants
information (count: 13552 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:13552 , 50 per page) page: 1 2 3 4 5 6 7 ... 272

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17756805	chr19:52271018-52271019	Genic enhancers Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552358396	chr19:52271038-52271039	Genic enhancers Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs564372072	chr19:52271047-52271048	Genic enhancers Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs55678043	chr19:52271057-52271058	Genic enhancers Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549797199	chr19:52271089-52271090	Genic enhancers Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569267614	chr19:52271097-52271098	Genic enhancers Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs536229518	chr19:52271112-52271113	Genic enhancers Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs548686140	chr19:52271120-52271121	Genic enhancers Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs566593672	chr19:52271141-52271142	Genic enhancers Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375285023	chr19:52271160-52271161	Genic enhancers Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534134048	chr19:52271168-52271169	Genic enhancers Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs55839429	chr19:52271171-52271172	Genic enhancers Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs183891744	chr19:52271197-52271198	Genic enhancers Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538189969	chr19:52271219-52271220	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs55805349	chr19:52271257-52271258	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs55728474	chr19:52271261-52271262	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs12984050	chr19:52271309-52271310	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539448522	chr19:52271319-52271320	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs551454679	chr19:52271326-52271327	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs149508953	chr19:52271339-52271340	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs570168624	chr19:52271460-52271461	Genic enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs17756817	chr19:52271491-52271492	Genic enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs572120770	chr19:52271526-52271527	Genic enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs555513500	chr19:52271533-52271534	Genic enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs80251579	chr19:52271567-52271568	Genic enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs573770626	chr19:52271621-52271622	Genic enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs116085531	chr19:52271668-52271669	Genic enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs117354798	chr19:52271669-52271670	Genic enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs561805618	chr19:52271694-52271695	Genic enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs530124066	chr19:52271713-52271714	Genic enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs3764541	chr19:52271756-52271757	Genic enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs188940091	chr19:52271804-52271805	Genic enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs75508500	chr19:52271811-52271812	Genic enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs112964637	chr19:52271834-52271835	Genic enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs113395037	chr19:52271855-52271856	Genic enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs367657410	chr19:52271861-52271862	Genic enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs370144867	chr19:52271896-52271897	Genic enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs199738549	chr19:52271903-52271904	Genic enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs112425957	chr19:52271927-52271928	Genic enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs149355664	chr19:52271933-52271934	Genic enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs144707166	chr19:52271945-52271946	Genic enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs374758492	chr19:52271950-52271951	Genic enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs367971570	chr19:52271987-52271988	Genic enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs372491689	chr19:52271990-52271991	Genic enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs148536218	chr19:52271998-52271999	Genic enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs545062017	chr19:52271999-52272000	Genic enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs375488620	chr19:52272006-52272007	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs368792026	chr19:52272013-52272014	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs372204077	chr19:52272040-52272041	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs267605624	chr19:52272071-52272072	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Adrenocortical carcinoma	18281524	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	22522925	CNVD
Autism	20531469	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:9582 , 50 per page) page: 1 2 3 4 5 6 7 ... 192

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52266600-52271800	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr19:52268600-52274400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr19:52269000-52274400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:52269800-52272000	Enhancers	K562	blood
5	chr19:52270000-52274800	Weak transcription	Ovary	ovary
6	chr19:52270200-52271200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr19:52270400-52273000	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
8	chr19:52270600-52273200	Genic enhancers	Primary monocytes fromperipheralblood	blood
9	chr19:52271000-52271400	Enhancers	Primary B cells from cord blood	blood
10	chr19:52271200-52273200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
11	chr19:52271400-52271600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr19:52271400-52271800	Active TSS	Primary B cells from cord blood	blood
13	chr19:52271600-52272000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:52271800-52272200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr19:52271800-52272400	Weak transcription	Primary B cells from cord blood	blood
16	chr19:52271800-52272600	ZNF genes & repeats	Spleen	Spleen
17	chr19:52272000-52273000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:52272000-52274800	Weak transcription	K562	blood
19	chr19:52272200-52273000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr19:52272400-52272600	Enhancers	Placenta	Placenta
21	chr19:52272400-52273000	Enhancers	Primary B cells from cord blood	blood
22	chr19:52272600-52281000	Weak transcription	Placenta	Placenta
23	chr19:52273000-52273200	Active TSS	Primary B cells from cord blood	blood
24	chr19:52273000-52274400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr19:52273000-52274400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:52273000-52276000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr19:52273200-52273400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
28	chr19:52273200-52273400	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr19:52273200-52276600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr19:52273400-52273600	Enhancers	Primary B cells from cord blood	blood
31	chr19:52273400-52273800	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr19:52273600-52274200	Weak transcription	Primary B cells from cord blood	blood
33	chr19:52273800-52274400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr19:52274200-52274600	Enhancers	Primary B cells from cord blood	blood
35	chr19:52274400-52274600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr19:52274400-52274600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr19:52274400-52275000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr19:52274400-52275000	Enhancers	Primary hematopoietic stem cells	blood
39	chr19:52274400-52275400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr19:52274600-52274800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr19:52274600-52275400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr19:52274800-52275000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr19:52274800-52275200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr19:52274800-52275200	Active TSS	Ovary	ovary
45	chr19:52274800-52275400	Enhancers	K562	blood
46	chr19:52275000-52275200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr19:52275000-52275600	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr19:52275000-52276600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr19:52275200-52275400	Bivalent Enhancer	Primary B cells from cord blood	blood
50	chr19:52275200-52275400	Bivalent Enhancer	Adipose Nuclei	Adipose

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