Variant report

Variant	nsv1063241
Chromosome Location	chr19:42057334-42175160
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2145)
CpG islands
(count:916)
Chromatin interactive
region (count:55)
LncRNA
region (count:31)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2145 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:42148361-42148615	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:42069756-42070106	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:42103941-42104349	K562	blood:	n/a	n/a
4	ATF2	chr19:42057741-42058452	GM12878	blood:	n/a	n/a
5	ATF2	chr19:42058880-42059462	GM12878	blood:	n/a	n/a
6	BACH1	chr19:42070923-42071061	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr19:42069740-42070116	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr19:42069451-42070328	A549	lung:	n/a	n/a
9	BCLAF1	chr19:42058839-42059499	GM12878	blood:	n/a	n/a
10	BCLAF1	chr19:42076940-42077340	GM12878	blood:	n/a	n/a
11	BHLHE40	chr19:42058942-42059293	GM12878	blood:	n/a	n/a
12	BHLHE40	chr19:42077052-42077252	K562	blood:	n/a	n/a
13	BHLHE40	chr19:42104075-42104211	K562	blood:	n/a	n/a
14	BHLHE40	chr19:42148329-42148592	GM12878	blood:	n/a	n/a
15	BHLHE40	chr19:42077015-42077237	GM12878	blood:	n/a	n/a
16	BHLHE40	chr19:42069778-42070086	GM12878	blood:	n/a	n/a
17	BRCA1	chr19:42057929-42058234	GM12878	blood:	n/a	n/a
18	BRCA1	chr19:42069853-42070107	HepG2	liver:	n/a	n/a
19	BRCA1	chr19:42077105-42077179	GM12878	blood:	n/a	n/a
20	CBX3	chr19:42170022-42170413	HCT-116	colon:	n/a	n/a
21	CBX3	chr19:42087500-42087699	K562	blood:	n/a	n/a
22	CBX3	chr19:42089010-42089278	K562	blood:	n/a	n/a
23	CBX3	chr19:42088705-42088947	K562	blood:	n/a	n/a
24	CBX3	chr19:42170041-42170347	K562	blood:	n/a	n/a
25	CBX3	chr19:42170019-42170400	K562	blood:	n/a	n/a
26	CBX3	chr19:42060178-42060444	K562	blood:	n/a	n/a
27	CBX3	chr19:42170024-42170506	HCT-116	colon:	n/a	n/a
28	CBX3	chr19:42150591-42150800	K562	blood:	n/a	n/a
29	CEBPB	chr19:42103945-42104257	A549	lung:	n/a	n/a
30	CEBPB	chr19:42148206-42148538	A549	lung:	n/a	n/a
31	CEBPB	chr19:42123238-42123522	HepG2	liver:	n/a	n/a
32	CEBPB	chr19:42110484-42110652	IMR90	lung:	n/a	chr19:42110585-42110596
33	CEBPB	chr19:42090058-42090357	HepG2	liver:	n/a	chr19:42090204-42090215
34	CEBPB	chr19:42170784-42170971	A549	lung:	n/a	n/a
35	CEBPB	chr19:42118832-42119191	MCF-7	breast:	n/a	chr19:42119020-42119031 chr19:42119021-42119030 chr19:42119019-42119032 chr19:42119019-42119030
36	CEBPB	chr19:42123164-42123495	A549	lung:	n/a	n/a
37	CEBPB	chr19:42150556-42150769	K562	blood:	n/a	chr19:42150628-42150641 chr19:42150630-42150641 chr19:42150630-42150641
38	CEBPB	chr19:42170807-42170839	K562	blood:	n/a	n/a
39	CEBPB	chr19:42083432-42083775	HepG2	liver:	n/a	chr19:42083597-42083608
40	CEBPB	chr19:42150453-42150761	MCF-7	breast:	n/a	chr19:42150628-42150641 chr19:42150630-42150641 chr19:42150630-42150641
41	CEBPB	chr19:42150582-42150748	IMR90	lung:	n/a	chr19:42150628-42150641 chr19:42150630-42150641 chr19:42150630-42150641
42	CEBPB	chr19:42069780-42070112	HepG2	liver:	n/a	n/a
43	CEBPB	chr19:42123244-42123427	K562	blood:	n/a	n/a
44	CEBPB	chr19:42171770-42172084	A549	lung:	n/a	chr19:42171916-42171927
45	CEBPB	chr19:42150550-42150710	Hela-S3	cervix:	n/a	chr19:42150628-42150641 chr19:42150630-42150641 chr19:42150630-42150641
46	CEBPB	chr19:42150504-42150794	K562	blood:	n/a	chr19:42150628-42150641 chr19:42150630-42150641 chr19:42150630-42150641
47	CEBPB	chr19:42118851-42119181	K562	blood:	n/a	chr19:42119020-42119031 chr19:42119021-42119030 chr19:42119019-42119032 chr19:42119019-42119030
48	CEBPB	chr19:42171759-42172077	IMR90	lung:	n/a	chr19:42171916-42171927
49	CEBPB	chr19:42150425-42150804	A549	lung:	n/a	chr19:42150628-42150641 chr19:42150630-42150641 chr19:42150630-42150641
50	CEBPB	chr19:42118845-42119213	A549	lung:	n/a	chr19:42119020-42119031 chr19:42119021-42119030 chr19:42119019-42119032 chr19:42119019-42119030

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42133416-42133466	HRPEpiC	eye:	n/a
2	chr19:42133416-42133466	HRPEpiC	eye:	n/a
3	chr19:42134478-42134528	PANC-1	pancreas:	n/a
4	chr19:42093086-42093136	NHBE	bronchial:	n/a
5	chr19:42134128-42134178	PrEC	prostate:	n/a
6	chr19:42093086-42093136	HCF	heart:	n/a
7	chr19:42083748-42083798	CMK	blood:	n/a
8	chr19:42081255-42081305	H1-hESC	embryonic stem cell:	embryo
9	chr19:42134478-42134528	GM06990	blood:	n/a
10	chr19:42082570-42082620	GM12878	blood:	n/a
11	chr19:42082570-42082620	Hela-S3	cervix:	n/a
12	chr19:42134128-42134178	HMEC	breast:	n/a
13	chr19:42082485-42082535	AG10803	skin:	n/a
14	chr19:42125367-42125417	HL-60	blood:	n/a
15	chr19:42133492-42133542	BE2_C	brain:	n/a
16	chr19:42134620-42134670	GM12891	blood:	n/a
17	chr19:42133416-42133466	HPAEpiC	pulmonary alveolar:	n/a
18	chr19:42125367-42125417	CMK	blood:	n/a
19	chr19:42083748-42083798	BJ	skin:	n/a
20	chr19:42133416-42133466	HMEC	breast:	n/a
21	chr19:42082102-42082152	A549	lung:	n/a
22	chr19:42081255-42081305	NB4	blood:	n/a
23	chr19:42133492-42133542	CMK	blood:	n/a
24	chr19:42082267-42082317	HEEpiC	esophagus:	n/a
25	chr19:42093086-42093136	T-47D	breast:	n/a
26	chr19:42133492-42133542	PFSK-1	brain:	n/a
27	chr19:42125367-42125417	NB4	blood:	n/a
28	chr19:42082570-42082620	PANC-1	pancreas:	n/a
29	chr19:42071114-42071164	HRCEpiC	kidney:	n/a
30	chr19:42133416-42133466	ProgFib	skin:	n/a
31	chr19:42093086-42093136	HCT-116	colon:	n/a
32	chr19:42082102-42082152	Jurkat	blood:	n/a
33	chr19:42082570-42082620	ECC-1	luminal epithelium:	n/a
34	chr19:42134620-42134670	H1-hESC	embryonic stem cell:	embryo
35	chr19:42071114-42071164	GM12891	blood:	n/a
36	chr19:42081255-42081305	HCF	heart:	n/a
37	chr19:42081255-42081305	BJ	skin:	n/a
38	chr19:42082350-42082400	H1-hESC	embryonic stem cell:	embryo
39	chr19:42134128-42134178	HPAEpiC	pulmonary alveolar:	n/a
40	chr19:42082485-42082535	Hela-S3	cervix:	n/a
41	chr19:42082102-42082152	BE2_C	brain:	n/a
42	chr19:42082350-42082400	HL-60	blood:	n/a
43	chr19:42134128-42134178	HRPEpiC	eye:	n/a
44	chr19:42134478-42134528	HIPEpiC	eye:	n/a
45	chr19:42081255-42081305	HCM	heart:	n/a
46	chr19:42082350-42082400	A549	lung:	n/a
47	chr19:42093086-42093136	HMEC	breast:	n/a
48	chr19:42071114-42071164	SAEC	small airway:	n/a
49	chr19:42125367-42125417	HPAEpiC	pulmonary alveolar:	n/a
50	chr19:42082570-42082620	Hepatocyte	liver:	n/a

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:42118056..42120670-chr19:42122238..42124677,3	K562	blood:
2	chr19:42118056..42120670-chr19:42122238..42124677,3	K562	blood:
3	chr19:42148024..42148877-chr19:42195016..42195762,2	K562	blood:
4	chr19:42170762..42173510-chr19:42176907..42179632,2	K562	blood:
5	chr19:41824418..41826193-chr19:42074523..42077074,2	K562	blood:
6	chr19:41933534..41935688-chr19:42105256..42107275,2	K562	blood:
7	chr19:41954968..41955934-chr19:42101318..42102296,4	MCF-7	breast:
8	chr19:42077943..42079577-chr19:42084170..42086427,2	K562	blood:
9	chr19:41877183..41879193-chr19:42077275..42079730,2	MCF-7	breast:
10	chr19:42148303..42148992-chr19:42250108..42251260,4	K562	blood:
11	chr19:42147580..42148927-chr19:42194859..42196377,8	MCF-7	breast:
12	chr19:42124874..42127284-chr19:42129933..42131883,2	K562	blood:
13	chr19:41954980..41955905-chr19:42076786..42077640,5	K562	blood:
14	chr19:42106606..42108496-chr19:42155878..42157427,2	MCF-7	breast:
15	chr19:42122210..42124944-chr19:42127760..42129362,2	K562	blood:
16	chr19:42078682..42081058-chr19:42082951..42085705,2	MCF-7	breast:
17	chr19:42071841..42072361-chr2:230045042..230045586,2	MCF-7	breast:
18	chr19:41943990..41946987-chr19:42072423..42074173,2	K562	blood:
19	chr19:41920096..41922257-chr19:42065475..42067160,2	MCF-7	breast:
20	chr19:42128745..42130555-chr19:42132891..42134764,2	MCF-7	breast:
21	chr19:42055107..42057086-chr19:42062207..42064223,3	K562	blood:
22	chr19:42124874..42127284-chr19:42129933..42131883,2	K562	blood:
23	chr19:42078682..42081058-chr19:42082951..42085705,2	MCF-7	breast:
24	chr19:42055153..42057086-chr19:42062207..42063970,2	K562	blood:
25	chr19:42069422..42070951-chr19:42073170..42075974,2	MCF-7	breast:
26	chr19:42116399..42118234-chr19:42119238..42121472,2	K562	blood:
27	chr19:42168589..42171356-chr19:42173176..42175470,2	MCF-7	breast:
28	chr19:42069422..42070951-chr19:42073170..42075974,2	MCF-7	breast:
29	chr19:42116399..42118234-chr19:42119238..42121472,2	K562	blood:
30	chr19:42048016..42049035-chr19:42076640..42077541,6	MCF-7	breast:
31	chr19:41945498..41946299-chr19:42076700..42077272,2	MCF-7	breast:
32	chr19:41954921..41955448-chr19:42069995..42070621,2	MCF-7	breast:
33	chr19:42147995..42149203-chr19:42195085..42195974,8	MCF-7	breast:
34	chr19:41959542..41961581-chr19:42071875..42074732,2	K562	blood:
35	chr19:42065450..42067193-chr19:42070166..42071920,2	K562	blood:
36	chr19:42147964..42148906-chr19:42250000..42251190,4	MCF-7	breast:
37	chr19:41832909..41835024-chr19:42101795..42103812,2	MCF-7	breast:
38	chr19:41955388..41955916-chr19:42101364..42101971,2	K562	blood:
39	chr19:42048109..42049006-chr19:42076514..42077838,6	MCF-7	breast:
40	chr19:42077943..42079577-chr19:42084170..42086427,2	K562	blood:
41	chr19:42044232..42044742-chr19:42076655..42077555,2	MCF-7	breast:
42	chr19:42090966..42093146-chr19:42106951..42108907,2	MCF-7	breast:
43	chr19:41847464..41848006-chr19:42069412..42069986,2	MCF-7	breast:
44	chr19:41954861..41955874-chr19:42069542..42070514,6	MCF-7	breast:
45	chr19:42048044..42048836-chr19:42069540..42070426,2	K562	blood:
46	chr19:41953484..41955550-chr19:42076712..42078351,2	MCF-7	breast:
47	chr19:42147220..42149633-chr19:42250736..42252324,3	MCF-7	breast:
48	chr12:69104029..69104938-chr19:42147801..42148493,2	MCF-7	breast:
49	chr19:42168589..42171356-chr19:42173176..42175470,2	MCF-7	breast:
50	chr19:41954976..41956003-chr19:42076182..42077940,10	MCF-7	breast:

(count:31 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CEACAM4-4	chr19:42111897-42112026	NONHSAT066477
2	lnc-C19orf69-2	chr19:42061321-42061469	ENSG00000268027.1
3	lnc-CEACAM21-1	chr19:42090703-42090796	NR_110107
4	lnc-CEACAM4-2	chr19:42144937-42145267	NONHSAT066479
5	lnc-CEACAM4-4	chr19:42111696-42111867	NONHSAT066477
6	lnc-C19orf69-2	chr19:42057550-42057672	ENSG00000268027.1
7	lnc-CEACAM21-4	chr19:42111196-42112339	NONHSAT066476
8	lnc-C19orf69-2	chr19:42061580-42061832	ENSG00000268027.1
9	lnc-CEACAM21-4	chr19:42110519-42110612	NONHSAT066476
10	lnc-C19orf69-2	chr19:42060076-42060116	ENSG00000268027.1
11	lnc-CEACAM21-4	chr19:42108598-42108907	NONHSAT066476
12	lnc-C19orf69-2	chr19:42057550-42057864	ENSG00000268027.1
13	lnc-CEACAM4-1	chr19:42131941-42132334	NONHSAT066478
14	lnc-CEACAM21-1	chr19:42082531-42082690	NR_110107
15	lnc-CEACAM4-1	chr19:42133268-42133442	NONHSAT066478
16	lnc-CEACAM21-4	chr19:42107567-42107882	NONHSAT066475
17	lnc-C19orf69-2	chr19:42061580-42061621	ENSG00000268027.1
18	lnc-C19orf69-2	chr19:42058123-42058198	ENSG00000268027.1
19	lnc-CEACAM21-1	chr19:42091796-42091848	NR_110107
20	lnc-CEACAM21-1	chr19:42083552-42083911	NR_110107
21	lnc-CEACAM5-1	chr19:42156601-42156888	NONHSAT066481
22	lnc-ATP5SL-2	chr19:42057938-42058639	NONHSAT066473
23	lnc-CEACAM21-1	chr19:42092817-42093197	NR_110107
24	lnc-CEACAM21-1	chr19:42092193-42092224	NR_110107
25	lnc-CEACAM4-3	chr19:42146027-42146227	NONHSAT066480
26	lnc-C19orf69-2	chr19:42060076-42060116	ENSG00000268027.1
27	lnc-CEACAM4-3	chr19:42146917-42146970	NONHSAT066480
28	lnc-C19orf69-2	chr19:42061321-42061469	ENSG00000268027.1
29	lnc-CEACAM21-4	chr19:42111318-42111576	NONHSAT066475
30	lnc-CEACAM21-1	chr19:42085623-42085981	NR_110107
31	lnc-CEACAM21-4	chr19:42106090-42106152	NONHSAT066475

No data

Variant related genes	Relation type
CEACAMP3	TF binding region
ENSG00000268582	TF binding region
CEACAM4	TF binding region
DNAJC19P2	TF binding region
DNAJC19P3	TF binding region
CEACAM21	TF binding region
ENSG00000269354	TF binding region
CEACAMP3	CpG island
ENSG00000268582	CpG island
CEACAM4	CpG island
DNAJC19P2	CpG island
DNAJC19P3	CpG island
CEACAM21	CpG island
ENSG00000269354	CpG island
ENSG00000269266	chromatin interactions
ENSG00000268027	chromatin interactions
ENSG00000105329	chromatin interactions
ENSG00000268582	chromatin interactions
ENSG00000177191	chromatin interactions
ENSG00000007129	chromatin interactions
ENSG00000142039	chromatin interactions
ENSG00000248098	chromatin interactions
ENSG00000239736	chromatin interactions
ENSG00000105352	chromatin interactions
ENSG00000105341	chromatin interactions

Extended variants
information (count: 3965 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:3965 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535423729	chr19:42057370-42057371	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs557289787	chr19:42057388-42057389	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs575526569	chr19:42057396-42057397	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs186335372	chr19:42057417-42057418	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs373691534	chr19:42057431-42057432	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs367755313	chr19:42057469-42057470	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs545821338	chr19:42057472-42057473	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs564035453	chr19:42057495-42057496	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs572994430	chr19:42057511-42057512	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs140306674	chr19:42057516-42057517	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs28750230	chr19:42057528-42057529	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs201162244	chr19:42057529-42057530	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs559391505	chr19:42057546-42057547	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs556384601	chr19:42057580-42057581	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs139834600	chr19:42057592-42057593	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs4803479	chr19:42057604-42057605	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs191183489	chr19:42057624-42057625	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs561170788	chr19:42057685-42057686	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs548649327	chr19:42057704-42057705	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs563642175	chr19:42057717-42057718	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs35807170	chr19:42057753-42057754	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs531070180	chr19:42057771-42057772	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs117237792	chr19:42057834-42057835	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
24	rs570490460	chr19:42057862-42057863	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs145966764	chr19:42057867-42057868	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs375071583	chr19:42057868-42057869	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs534839584	chr19:42057876-42057877	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs547062094	chr19:42057885-42057886	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs10413527	chr19:42057890-42057891	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs535639286	chr19:42057898-42057899	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs10153482	chr19:42057906-42057907	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs569188569	chr19:42057927-42057928	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs372432446	chr19:42057929-42057930	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs143058020	chr19:42057992-42057993	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
35	rs16975338	chr19:42058025-42058026	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs146139197	chr19:42058027-42058028	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs539996392	chr19:42058029-42058030	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
38	rs555440492	chr19:42058034-42058035	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
39	rs573608432	chr19:42058072-42058073	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs550418338	chr19:42058091-42058092	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
41	rs139997809	chr19:42058156-42058157	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
42	rs531132459	chr19:42058158-42058159	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
43	rs546071940	chr19:42058177-42058178	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
44	rs182383474	chr19:42058204-42058205	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
45	rs187409908	chr19:42058216-42058217	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
46	rs149816441	chr19:42058223-42058224	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
47	rs111360104	chr19:42058251-42058252	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
48	rs529332527	chr19:42058264-42058265	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
49	rs530233280	chr19:42058265-42058266	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
50	rs373592815	chr19:42058334-42058335	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	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
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	18511947	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1318 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42053200-42058200	Weak transcription	Lung	lung
2	chr19:42055000-42059200	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr19:42055200-42058400	Active TSS	Rectal Smooth Muscle	rectum
4	chr19:42055200-42059200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:42055600-42058800	Active TSS	Colonic Mucosa	Colon
6	chr19:42055600-42059000	Weak transcription	Spleen	Spleen
7	chr19:42055600-42059200	Active TSS	Duodenum Mucosa	Duodenum
8	chr19:42055600-42059200	Active TSS	Sigmoid Colon	Sigmoid Colon
9	chr19:42055600-42059400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
10	chr19:42055600-42059400	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr19:42055600-42059600	Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr19:42055600-42059600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:42055600-42059800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr19:42055800-42057800	Active TSS	Primary T cells fromperipheralblood	blood
15	chr19:42055800-42057800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr19:42055800-42057800	Active TSS	GM12878-XiMat	blood
17	chr19:42055800-42058200	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr19:42055800-42058400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr19:42055800-42058600	Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr19:42055800-42058800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:42055800-42059200	Active TSS	Primary T cells from cord blood	blood
22	chr19:42055800-42060000	Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr19:42056000-42057600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr19:42056000-42058400	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr19:42056000-42058800	Active TSS	Brain Hippocampus Middle	brain
26	chr19:42056200-42058800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr19:42056200-42060400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:42056400-42057800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr19:42056400-42057800	Active TSS	Thymus	Thymus
30	chr19:42056400-42058400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:42056400-42059400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr19:42056400-42059600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:42056600-42058400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
34	chr19:42056600-42060200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr19:42056800-42057400	Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr19:42056800-42057800	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr19:42056800-42058000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
38	chr19:42056800-42058400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr19:42057000-42061000	Weak transcription	HUVEC	blood vessel
40	chr19:42057200-42057600	Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr19:42057200-42057600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr19:42057200-42057800	Weak transcription	Adipose Nuclei	Adipose
43	chr19:42057200-42058000	Enhancers	Fetal Thymus	thymus
44	chr19:42057200-42058000	Weak transcription	Right Atrium	heart
45	chr19:42057200-42058800	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
46	chr19:42057400-42058000	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
47	chr19:42057600-42057800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr19:42057600-42058800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
49	chr19:42057600-42060000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr19:42057800-42058000	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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