Variant report

Variant	nsv912517
Chromosome Location	chr19:56794645-56822466
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:56821009-56821236	K562	blood:	n/a	n/a
2	ARID3A	chr19:56813327-56813373	K562	blood:	n/a	n/a
3	ATF3	chr19:56820968-56821259	K562	blood:	n/a	n/a
4	ATF3	chr19:56820863-56821361	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr19:56821179-56821200	K562	blood:	n/a	n/a
6	BCLAF1	chr19:56820940-56821234	GM12878	blood:	n/a	n/a
7	BHLHE40	chr19:56820975-56821324	K562	blood:	n/a	n/a
8	CBX3	chr19:56820962-56821337	K562	blood:	n/a	n/a
9	CBX3	chr19:56813200-56813543	K562	blood:	n/a	n/a
10	CEBPB	chr19:56820643-56821157	K562	blood:	n/a	n/a
11	CEBPB	chr19:56799963-56800165	IMR90	lung:	n/a	n/a
12	CEBPB	chr19:56820243-56820425	HepG2	liver:	n/a	n/a
13	CHD2	chr19:56821089-56821319	K562	blood:	n/a	n/a
14	CHD2	chr19:56820989-56821312	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr19:56821060-56821210	HPF	lung:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
16	CTCF	chr19:56812620-56812770	BE2_C	brain:	n/a	n/a
17	CTCF	chr19:56821060-56821210	GM12867	blood:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
18	CTCF	chr19:56821060-56821210	GM12870	blood:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
19	CTCF	chr19:56820945-56821393	MCF-7	breast:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821329-56821336 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
20	CTCF	chr19:56820821-56821428	K562	blood:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821329-56821336 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
21	CTCF	chr19:56821900-56822050	MCF-7	breast:	n/a	n/a
22	CTCF	chr19:56812640-56812790	AG09309	skin:	n/a	n/a
23	CTCF	chr19:56821060-56821210	GM12864	blood:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
24	CTCF	chr19:56821060-56821210	HAc	cerebellar:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
25	CTCF	chr19:56812740-56812770	Pancreas_OC	pancreas:	n/a	n/a
26	CTCF	chr19:56821060-56821210	GM12869	blood:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
27	CTCF	chr19:56820831-56821478	K562	blood:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821329-56821336 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
28	CTCF	chr19:56821100-56821250	NB4	blood:	n/a	chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
29	CTCF	chr19:56812680-56812830	GM12864	blood:	n/a	n/a
30	CTCF	chr19:56820965-56821347	Gliobla	brain:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821329-56821336 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
31	CTCF	chr19:56820960-56821110	A549	lung:	n/a	n/a
32	CTCF	chr19:56812620-56812770	GM12864	blood:	n/a	n/a
33	CTCF	chr19:56821080-56821230	SAEC	small airway:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
34	CTCF	chr19:56821333-56821338	GM10266	blood:	n/a	n/a
35	CTCF	chr19:56821040-56821190	AG04449	skin:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
36	CTCF	chr19:56821080-56821230	AoAF	blood vessel:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
37	CTCF	chr19:56821060-56821210	AG04450	lung:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
38	CTCF	chr19:56821352-56821404	GM12891	blood:	n/a	n/a
39	CTCF	chr19:56820977-56821292	GM10266	blood:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
40	CTCF	chr19:56812680-56812830	GM12878	blood:	n/a	n/a
41	CTCF	chr19:56820888-56821457	MCF-7	breast:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821329-56821336 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
42	CTCF	chr19:56820913-56821301	ECC-1	luminal epithelium:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
43	CTCF	chr19:56820751-56821605	MCF-7	breast:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821329-56821336 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
44	CTCF	chr19:56820647-56821560	A549	lung:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821329-56821336 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
45	CTCF	chr19:56812680-56812830	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr19:56820896-56821383	GM12878	blood:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821329-56821336 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
47	CTCF	chr19:56821200-56821350	HAc	cerebellar:	n/a	chr19:56821329-56821336
48	CTCF	chr19:56821080-56821230	HRE	kidney:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
49	CTCF	chr19:56820890-56821332	A549	lung:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114
50	CTCF	chr19:56820967-56821380	GM12878	blood:	n/a	chr19:56821099-56821117 chr19:56821104-56821112 chr19:56821162-56821178 chr19:56821329-56821336 chr19:56821094-56821115 chr19:56821101-56821114 chr19:56821100-56821116 chr19:56821101-56821114

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56821774-56821824	PrEC	prostate:	n/a
2	chr19:56821774-56821824	ovcar-3	ovarian:	n/a
3	chr19:56821774-56821824	HRPEpiC	eye:	n/a
4	chr19:56821774-56821824	HRE	kidney:	n/a
5	chr19:56821774-56821824	AG09309	skin:	n/a
6	chr19:56821774-56821824	T-47D	breast:	n/a
7	chr19:56821774-56821824	AG09319	gingival:	n/a
8	chr19:56821774-56821824	GM12891	blood:	n/a
9	chr19:56821774-56821824	HAEpiC	amniotic membrane:	n/a
10	chr19:56821774-56821824	U87	brain:	n/a
11	chr19:56821774-56821824	SKMC	muscle:	n/a
12	chr19:56821774-56821824	NHBE	bronchial:	n/a
13	chr19:56821774-56821824	SK-N-SH	brain:	n/a
14	chr19:56821774-56821824	Jurkat	blood:	n/a
15	chr19:56821774-56821824	AG04450	lung:	fetal
16	chr19:56821774-56821824	AG04449	skin:	fetal
17	chr19:56821774-56821824	AoSMC	blood vessel:	n/a
18	chr19:56821774-56821824	HCF	heart:	n/a
19	chr19:56821774-56821824	PFSK-1	brain:	n/a
20	chr19:56821774-56821824	HCM	heart:	n/a
21	chr19:56821774-56821824	HL-60	blood:	n/a
22	chr19:56821774-56821824	HPAEpiC	pulmonary alveolar:	n/a
23	chr19:56821774-56821824	GM06990	blood:	n/a
24	chr19:56821774-56821824	NHDF-neo	bronchial:	n/a
25	chr19:56821774-56821824	IMR90	lung:	fetal
26	chr19:56821774-56821824	HEEpiC	esophagus:	n/a
27	chr19:56821774-56821824	K562	blood:	n/a
28	chr19:56821774-56821824	GM19239	blood:	n/a
29	chr19:56821774-56821824	LNCaP	prostate:	n/a
30	chr19:56821774-56821824	HIPEpiC	eye:	n/a
31	chr19:56821774-56821824	AG10803	skin:	n/a
32	chr19:56821774-56821824	MCF-7	breast:	n/a
33	chr19:56821774-56821824	HRCEpiC	kidney:	n/a
34	chr19:56821774-56821824	ProgFib	skin:	n/a
35	chr19:56821774-56821824	SK-N-MC	brain:	n/a
36	chr19:56821774-56821824	HepG2	liver:	n/a
37	chr19:56821774-56821824	NT2-D1	testis:	n/a
38	chr19:56821774-56821824	HCPEpiC	choroid plexus:	n/a
39	chr19:56821774-56821824	SK-N-SH_RA	brain:	n/a
40	chr19:56821774-56821824	Caco-2	colon:	n/a
41	chr19:56821774-56821824	NB4	blood:	n/a
42	chr19:56821774-56821824	HEK293	kidney:	embryo
43	chr19:56821774-56821824	HCT-116	colon:	n/a
44	chr19:56821774-56821824	PANC-1	pancreas:	n/a
45	chr19:56821774-56821824	NH-A	brain:	n/a
46	chr19:56821774-56821824	Hepatocyte	liver:	n/a
47	chr19:56821774-56821824	CMK	blood:	n/a
48	chr19:56821774-56821824	A549	lung:	n/a
49	chr19:56821774-56821824	SAEC	small airway:	n/a
50	chr19:56821774-56821824	MCF10A-Er-Src	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:56821792..56823459-chr19:56860076..56862047,2	K562	blood:
2	chr19:56821112..56821613-chr19:56861782..56862434,2	K562	blood:
3	chr19:56631633..56633507-chr19:56820271..56822769,2	MCF-7	breast:
4	chr19:56766124..56767037-chr19:56820605..56821442,2	MCF-7	breast:
5	chr19:56807700..56809407-chr19:56813421..56815521,2	K562	blood:
6	chr19:56798402..56800517-chr19:56824554..56827552,3	K562	blood:
7	chr19:56797989..56800517-chr19:56824554..56828282,3	K562	blood:
8	chr19:56820673..56821653-chr19:56844611..56845545,7	MCF-7	breast:
9	chr19:56813348..56817518-chr19:56818842..56822529,5	K562	blood:
10	chr19:56815074..56816909-chr19:56819293..56822091,2	K562	blood:
11	chr11:118560524..118561488-chr19:56820849..56821521,2	MCF-7	breast:
12	chr19:56577530..56578455-chr19:56820635..56821533,4	MCF-7	breast:
13	chr19:56629872..56632038-chr19:56819906..56821500,2	MCF-7	breast:
14	chr19:56764916..56765950-chr19:56820818..56821640,4	MCF-7	breast:
15	chr19:56731454..56732253-chr19:56820726..56821606,2	MCF-7	breast:
16	chr19:56817144..56823532-chr19:56823653..56827077,7	K562	blood:
17	chr19:56814154..56816778-chr19:56824607..56827217,3	K562	blood:
18	chr19:56782876..56785649-chr19:56814131..56816489,2	K562	blood:
19	chr19:56764814..56765752-chr19:56820274..56821276,4	K562	blood:
20	chr19:56800949..56803657-chr19:56804852..56806650,2	K562	blood:
21	chr19:56793005..56795545-chr19:56798620..56800184,2	K562	blood:
22	chr19:56807078..56808007-chr19:56820602..56821134,2	MCF-7	breast:
23	chr19:56587513..56588027-chr19:56820710..56821536,2	MCF-7	breast:
24	chr19:56815074..56816909-chr19:56819293..56822091,2	K562	blood:
25	chr19:56777096..56779331-chr19:56819751..56822246,2	MCF-7	breast:
26	chr19:56820844..56821652-chr19:56844543..56845280,2	MCF-7	breast:
27	chr19:56806540..56808650-chr19:56825989..56828485,3	MCF-7	breast:
28	chr19:56811881..56813231-chr19:56820624..56821581,3	K562	blood:
29	chr19:56807700..56809407-chr19:56813421..56815521,2	K562	blood:
30	chr19:56814282..56817166-chr19:56824782..56826304,2	MCF-7	breast:
31	chr19:56815305..56818152-chr19:56824405..56826138,2	MCF-7	breast:
32	chr19:56800928..56803425-chr19:56806728..56809539,2	MCF-7	breast:
33	chr19:56588380..56589352-chr19:56820676..56821212,2	MCF-7	breast:
34	chr19:56819466..56823348-chr19:56824038..56827318,8	MCF-7	breast:
35	chr19:56587780..56588309-chr19:56820859..56821642,2	MCF-7	breast:
36	chr19:56764396..56765751-chr19:56820601..56821654,11	MCF-7	breast:
37	chr19:56815831..56819069-chr19:56823653..56827558,7	K562	blood:
38	chr19:56772426..56773119-chr19:56820978..56821526,2	MCF-7	breast:
39	chr19:56811881..56813231-chr19:56820624..56821581,3	K562	blood:
40	chr19:56593381..56594153-chr19:56822143..56822736,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSCAN5C-1	chr19:56807705-56807784	NONHSAT068095
2	lnc-ZSCAN5C-1	chr19:56816143-56816199	NONHSAT068093
3	lnc-ZSCAN5C-1	chr19:56799122-56799446	NONHSAT068093
4	lnc-ZSCAN5C-1	chr19:56802840-56803281	NONHSAT068093
5	lnc-ZSCAN5C-1	chr19:56808778-56809445	NONHSAT068093
6	lnc-ZSCAN5C-1	chr19:56802559-56802734	NONHSAT068093
7	lnc-ZSCAN5C-1	chr19:56807705-56807843	NONHSAT068093
8	lnc-ZSCAN5C-1	chr19:56794716-56795256	NONHSAT068093
9	lnc-ZSCAN5C-1	chr19:56807143-56807336	NONHSAT068093
10	lnc-ZNF582-5	chr19:56807437-56807764	NONHSAT068096
11	lnc-ZSCAN5C-1	chr19:56795924-56796439	NONHSAT068093
12	lnc-ZSCAN5C-1	chr19:56821493-56821930	NONHSAT068093
13	lnc-ZSCAN5C-1	chr19:56808874-56809238	NONHSAT068095
14	lnc-ZNF582-5	chr19:56794714-56795256	NONHSAT068092
15	lnc-ZSCAN5C-1	chr19:56812184-56813464	NONHSAT068093
16	lnc-ZSCAN5C-1	chr19:56806436-56806522	NONHSAT068093
17	lnc-ZSCAN5C-1	chr19:56807197-56807336	NONHSAT068095

Variant related genes	Relation type
ENSG00000267549	TF binding region
ENSG00000267710	TF binding region
ENSG00000267549	CpG island
ENSG00000267710	CpG island
ENSG00000267549	chromatin interactions
ENSG00000267522	chromatin interactions
ENSG00000142409	chromatin interactions
ENSG00000255239	chromatin interactions
ENSG00000267710	chromatin interactions
ENSG00000131848	chromatin interactions
ENSG00000200646	chromatin interactions
ENSG00000267298	chromatin interactions

Extended variants
information (count: 1153 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1153 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1558357	chr19:56794645-56794646	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373690015	chr19:56794671-56794672	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs551643175	chr19:56794724-56794725	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs561373309	chr19:56794769-56794770	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs8100911	chr19:56794808-56794809	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs117971551	chr19:56794844-56794845	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs559103171	chr19:56794852-56794853	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs184929357	chr19:56794864-56794865	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs560895328	chr19:56794870-56794871	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs190823918	chr19:56794892-56794893	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs564778761	chr19:56794898-56794899	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs530673725	chr19:56794902-56794903	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs182069619	chr19:56794910-56794911	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs186225934	chr19:56794930-56794931	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs149935988	chr19:56794979-56794980	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs375498007	chr19:56794983-56794984	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs534482289	chr19:56795012-56795013	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs140566590	chr19:56795052-56795053	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs567193967	chr19:56795057-56795058	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs374370079	chr19:56795072-56795073	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs80272177	chr19:56795074-56795075	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs559116779	chr19:56795089-56795090	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs554147699	chr19:56795093-56795094	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs138638685	chr19:56795116-56795117	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs142044176	chr19:56795137-56795138	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs8104291	chr19:56795138-56795139	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs369874685	chr19:56795214-56795215	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs554644871	chr19:56795229-56795230	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs115342710	chr19:56795239-56795240	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs189092604	chr19:56795247-56795248	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs552817960	chr19:56795263-56795264	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377189400	chr19:56795264-56795265	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538684108	chr19:56795267-56795268	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572802051	chr19:56795315-56795316	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536775018	chr19:56795317-56795318	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565136004	chr19:56795339-56795340	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs726305	chr19:56795370-56795371	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544332291	chr19:56795467-56795468	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181273943	chr19:56795495-56795496	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs8104696	chr19:56795496-56795497	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs546621886	chr19:56795516-56795517	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557022933	chr19:56795520-56795521	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567131532	chr19:56795532-56795533	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200203588	chr19:56795575-56795576	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144358599	chr19:56795622-56795623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552490847	chr19:56795664-56795665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569461650	chr19:56795666-56795667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537937014	chr19:56795734-56795735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147769438	chr19:56795747-56795748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568235332	chr19:56795816-56795817	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
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:816 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56729200-56803000	Weak transcription	Pancreas	Pancrea
2	chr19:56753000-56809000	Weak transcription	Gastric	stomach
3	chr19:56764400-56798600	Weak transcription	Placenta	Placenta
4	chr19:56764600-56799400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:56764600-56804000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr19:56766600-56804200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr19:56768600-56794800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr19:56770200-56795200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr19:56770200-56799400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:56770400-56804400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr19:56771400-56817200	Weak transcription	Fetal Brain Male	brain
12	chr19:56771600-56807000	Weak transcription	Right Ventricle	heart
13	chr19:56772800-56807600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr19:56772800-56824200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr19:56773000-56807400	Weak transcription	Esophagus	oesophagus
16	chr19:56775800-56815600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr19:56779600-56820200	Weak transcription	Hela-S3	cervix
18	chr19:56779800-56800000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr19:56779800-56807200	Weak transcription	Left Ventricle	heart
20	chr19:56781400-56804600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr19:56782200-56799200	Weak transcription	Fetal Intestine Small	intestine
22	chr19:56782800-56825200	Weak transcription	Psoas Muscle	Psoas
23	chr19:56783000-56825000	Weak transcription	Stomach Mucosa	stomach
24	chr19:56783200-56804000	Weak transcription	Brain Germinal Matrix	brain
25	chr19:56783200-56805400	Weak transcription	Brain Hippocampus Middle	brain
26	chr19:56784400-56794800	Weak transcription	NH-A	brain
27	chr19:56784800-56797600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr19:56785200-56798200	Weak transcription	Lung	lung
29	chr19:56785400-56803200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr19:56785400-56823600	Weak transcription	Osteobl	bone
31	chr19:56785600-56805400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr19:56785800-56802800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:56785800-56804000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:56786200-56804200	Weak transcription	Thymus	Thymus
35	chr19:56786800-56813000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr19:56788000-56804400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr19:56788200-56824400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr19:56788800-56802400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr19:56788800-56803200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr19:56788800-56804200	Weak transcription	Colonic Mucosa	Colon
41	chr19:56788800-56804200	Weak transcription	HSMM	muscle
42	chr19:56788800-56804400	Weak transcription	Ovary	ovary
43	chr19:56788800-56805800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr19:56788800-56806000	Weak transcription	Brain Anterior Caudate	brain
45	chr19:56788800-56813000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr19:56789000-56794800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr19:56789000-56799200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr19:56789000-56799400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr19:56789000-56799800	Weak transcription	A549	lung
50	chr19:56789000-56801600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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