Variant report

Variant	nsv519408
Chromosome Location	chr19:42066279-42171906
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2025)
CpG islands
(count:915)
Chromatin interactive
region (count:52)
LncRNA
region (count:21)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2025 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

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	chr19:42103941-42104349	K562	blood:	n/a	n/a
3	ARID3A	chr19:42069756-42070106	HepG2	liver:	n/a	n/a
4	BACH1	chr19:42069740-42070116	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr19:42070923-42071061	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr19:42069451-42070328	A549	lung:	n/a	n/a
7	BCLAF1	chr19:42076940-42077340	GM12878	blood:	n/a	n/a
8	BHLHE40	chr19:42077015-42077237	GM12878	blood:	n/a	n/a
9	BHLHE40	chr19:42104075-42104211	K562	blood:	n/a	n/a
10	BHLHE40	chr19:42069778-42070086	GM12878	blood:	n/a	n/a
11	BHLHE40	chr19:42077052-42077252	K562	blood:	n/a	n/a
12	BHLHE40	chr19:42148329-42148592	GM12878	blood:	n/a	n/a
13	BRCA1	chr19:42069853-42070107	HepG2	liver:	n/a	n/a
14	BRCA1	chr19:42077105-42077179	GM12878	blood:	n/a	n/a
15	CBX3	chr19:42088705-42088947	K562	blood:	n/a	n/a
16	CBX3	chr19:42089010-42089278	K562	blood:	n/a	n/a
17	CBX3	chr19:42170022-42170413	HCT-116	colon:	n/a	n/a
18	CBX3	chr19:42150591-42150800	K562	blood:	n/a	n/a
19	CBX3	chr19:42170041-42170347	K562	blood:	n/a	n/a
20	CBX3	chr19:42170024-42170506	HCT-116	colon:	n/a	n/a
21	CBX3	chr19:42087500-42087699	K562	blood:	n/a	n/a
22	CBX3	chr19:42170019-42170400	K562	blood:	n/a	n/a
23	CEBPB	chr19:42123191-42123505	IMR90	lung:	n/a	n/a
24	CEBPB	chr19:42090185-42090207	K562	blood:	n/a	n/a
25	CEBPB	chr19:42089327-42089439	IMR90	lung:	n/a	n/a
26	CEBPB	chr19:42103946-42104265	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr19:42118781-42119295	A549	lung:	n/a	chr19:42119020-42119031 chr19:42119021-42119030 chr19:42119019-42119032 chr19:42119019-42119030
28	CEBPB	chr19:42171759-42172077	IMR90	lung:	n/a	chr19:42171916-42171927
29	CEBPB	chr19:42123244-42123427	K562	blood:	n/a	n/a
30	CEBPB	chr19:42110484-42110652	IMR90	lung:	n/a	chr19:42110585-42110596
31	CEBPB	chr19:42103945-42104257	A549	lung:	n/a	n/a
32	CEBPB	chr19:42118871-42119193	IMR90	lung:	n/a	chr19:42119020-42119031 chr19:42119021-42119030 chr19:42119019-42119032 chr19:42119019-42119030
33	CEBPB	chr19:42110437-42110713	HepG2	liver:	n/a	chr19:42110585-42110596
34	CEBPB	chr19:42150425-42150804	A549	lung:	n/a	chr19:42150628-42150641 chr19:42150630-42150641 chr19:42150630-42150641
35	CEBPB	chr19:42118846-42119235	Hela-S3	cervix:	n/a	chr19:42119020-42119031 chr19:42119021-42119030 chr19:42119019-42119032 chr19:42119019-42119030
36	CEBPB	chr19:42110476-42110735	A549	lung:	n/a	chr19:42110585-42110596
37	CEBPB	chr19:42150453-42150761	MCF-7	breast:	n/a	chr19:42150628-42150641 chr19:42150630-42150641 chr19:42150630-42150641
38	CEBPB	chr19:42118832-42119191	MCF-7	breast:	n/a	chr19:42119020-42119031 chr19:42119021-42119030 chr19:42119019-42119032 chr19:42119019-42119030
39	CEBPB	chr19:42118845-42119213	A549	lung:	n/a	chr19:42119020-42119031 chr19:42119021-42119030 chr19:42119019-42119032 chr19:42119019-42119030
40	CEBPB	chr19:42171770-42172084	A549	lung:	n/a	chr19:42171916-42171927
41	CEBPB	chr19:42069780-42070112	HepG2	liver:	n/a	n/a
42	CEBPB	chr19:42090057-42090363	A549	lung:	n/a	chr19:42090204-42090215
43	CEBPB	chr19:42170807-42170839	K562	blood:	n/a	n/a
44	CEBPB	chr19:42150504-42150794	K562	blood:	n/a	chr19:42150628-42150641 chr19:42150630-42150641 chr19:42150630-42150641
45	CEBPB	chr19:42150582-42150748	IMR90	lung:	n/a	chr19:42150628-42150641 chr19:42150630-42150641 chr19:42150630-42150641
46	CEBPB	chr19:42090040-42090299	IMR90	lung:	n/a	chr19:42090204-42090215
47	CEBPB	chr19:42118851-42119181	K562	blood:	n/a	chr19:42119020-42119031 chr19:42119021-42119030 chr19:42119019-42119032 chr19:42119019-42119030
48	CEBPB	chr19:42083432-42083775	HepG2	liver:	n/a	chr19:42083597-42083608
49	CEBPB	chr19:42150556-42150769	K562	blood:	n/a	chr19:42150628-42150641 chr19:42150630-42150641 chr19:42150630-42150641
50	CEBPB	chr19:42170784-42170971	A549	lung:	n/a	n/a

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42082570-42082620	HUVEC	blood vessel:	n/a
2	chr19:42083748-42083798	T-47D	breast:	n/a
3	chr19:42081255-42081305	ovcar-3	ovarian:	n/a
4	chr19:42082570-42082620	U87	brain:	n/a
5	chr19:42083748-42083798	NB4	blood:	n/a
6	chr19:42082267-42082317	RPTEC	kidney:	n/a
7	chr19:42134478-42134528	AoSMC	blood vessel:	n/a
8	chr19:42134478-42134528	Caco-2	colon:	n/a
9	chr19:42125367-42125417	GM12878	blood:	n/a
10	chr19:42133416-42133466	NT2-D1	testis:	n/a
11	chr19:42082570-42082620	NHBE	bronchial:	n/a
12	chr19:42134478-42134528	HMEC	breast:	n/a
13	chr19:42083748-42083798	HMEC	breast:	n/a
14	chr19:42133416-42133466	HEEpiC	esophagus:	n/a
15	chr19:42133492-42133542	AG09319	gingival:	n/a
16	chr19:42134620-42134670	HRCEpiC	kidney:	n/a
17	chr19:42082485-42082535	NB4	blood:	n/a
18	chr19:42093086-42093136	AG09319	gingival:	n/a
19	chr19:42093086-42093136	BJ	skin:	n/a
20	chr19:42083748-42083798	HPAEpiC	pulmonary alveolar:	n/a
21	chr19:42133492-42133542	HCF	heart:	n/a
22	chr19:42082267-42082317	HNPCEpiC	eye:	n/a
23	chr19:42082350-42082400	HRE	kidney:	n/a
24	chr19:42134620-42134670	ProgFib	skin:	n/a
25	chr19:42082267-42082317	Hela-S3	cervix:	n/a
26	chr19:42083748-42083798	GM12892	blood:	n/a
27	chr19:42133416-42133466	U87	brain:	n/a
28	chr19:42082485-42082535	K562	blood:	n/a
29	chr19:42134128-42134178	IMR90	lung:	fetal
30	chr19:42134128-42134178	AG04450	lung:	fetal
31	chr19:42083748-42083798	SK-N-SH	brain:	n/a
32	chr19:42125367-42125417	HRCEpiC	kidney:	n/a
33	chr19:42093086-42093136	HCT-116	colon:	n/a
34	chr19:42134478-42134528	K562	blood:	n/a
35	chr19:42134478-42134528	AG09319	gingival:	n/a
36	chr19:42071114-42071164	GM19239	blood:	n/a
37	chr19:42125367-42125417	SK-N-SH_RA	brain:	n/a
38	chr19:42133416-42133466	PFSK-1	brain:	n/a
39	chr19:42081255-42081305	HUVEC	blood vessel:	n/a
40	chr19:42082350-42082400	HIPEpiC	eye:	n/a
41	chr19:42125367-42125417	PFSK-1	brain:	n/a
42	chr19:42082485-42082535	T-47D	breast:	n/a
43	chr19:42082485-42082535	SK-N-MC	brain:	n/a
44	chr19:42134128-42134178	MCF10A-Er-Src	breast:	n/a
45	chr19:42134128-42134178	ECC-1	luminal epithelium:	n/a
46	chr19:42125367-42125417	NHDF-neo	bronchial:	n/a
47	chr19:42083748-42083798	ProgFib	skin:	n/a
48	chr19:42134128-42134178	AG04449	skin:	fetal
49	chr19:42082350-42082400	NHBE	bronchial:	n/a
50	chr19:42083748-42083798	CMK	blood:	n/a

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:41877183..41879193-chr19:42077275..42079730,2	MCF-7	breast:
2	chr19:42116399..42118234-chr19:42119238..42121472,2	K562	blood:
3	chr19:42122210..42124944-chr19:42127760..42129362,2	K562	blood:
4	chr19:42044232..42044742-chr19:42076655..42077555,2	MCF-7	breast:
5	chr19:42069422..42070951-chr19:42073170..42075974,2	MCF-7	breast:
6	chr19:41920096..41922257-chr19:42065475..42067160,2	MCF-7	breast:
7	chr19:42078682..42081058-chr19:42082951..42085705,2	MCF-7	breast:
8	chr19:42147995..42149203-chr19:42195085..42195974,8	MCF-7	breast:
9	chr19:42147580..42148927-chr19:42194859..42196377,8	MCF-7	breast:
10	chr19:41824418..41826193-chr19:42074523..42077074,2	K562	blood:
11	chr19:42048109..42049006-chr19:42076514..42077838,6	MCF-7	breast:
12	chr19:42122210..42124944-chr19:42127760..42129362,2	K562	blood:
13	chr19:41954976..41956003-chr19:42076182..42077940,10	MCF-7	breast:
14	chr19:41959542..41961581-chr19:42071875..42074732,2	K562	blood:
15	chr19:41933534..41935688-chr19:42105256..42107275,2	K562	blood:
16	chr19:42106606..42108496-chr19:42155878..42157427,2	MCF-7	breast:
17	chr19:42078682..42081058-chr19:42082951..42085705,2	MCF-7	breast:
18	chr19:41945498..41946299-chr19:42076700..42077272,2	MCF-7	breast:
19	chr19:41941738..41942622-chr19:42076685..42077563,3	MCF-7	breast:
20	chr19:41954968..41955934-chr19:42101318..42102296,4	MCF-7	breast:
21	chr19:42118056..42120670-chr19:42122238..42124677,3	K562	blood:
22	chr19:41954991..41955547-chr19:42076737..42077301,2	MCF-7	breast:
23	chr19:41954861..41955874-chr19:42069542..42070514,6	MCF-7	breast:
24	chr19:41954980..41955905-chr19:42076786..42077640,5	K562	blood:
25	chr19:42069422..42070951-chr19:42073170..42075974,2	MCF-7	breast:
26	chr19:42090966..42093146-chr19:42106951..42108907,2	MCF-7	breast:
27	chr19:42048016..42049035-chr19:42076640..42077541,6	MCF-7	breast:
28	chr19:42148024..42148877-chr19:42195016..42195762,2	K562	blood:
29	chr19:41953484..41955550-chr19:42076712..42078351,2	MCF-7	breast:
30	chr19:41955026..41955865-chr19:42069595..42070117,2	K562	blood:
31	chr19:41943990..41946987-chr19:42072423..42074173,2	K562	blood:
32	chr19:41847464..41848006-chr19:42069412..42069986,2	MCF-7	breast:
33	chr19:42077943..42079577-chr19:42084170..42086427,2	K562	blood:
34	chr19:42168589..42171356-chr19:42173176..42175470,2	MCF-7	breast:
35	chr19:42148303..42148992-chr19:42250108..42251260,4	K562	blood:
36	chr19:42128745..42130555-chr19:42132891..42134764,2	MCF-7	breast:
37	chr19:42147964..42148906-chr19:42250000..42251190,4	MCF-7	breast:
38	chr19:42147220..42149633-chr19:42250736..42252324,3	MCF-7	breast:
39	chr19:42077943..42079577-chr19:42084170..42086427,2	K562	blood:
40	chr19:42170762..42173510-chr19:42176907..42179632,2	K562	blood:
41	chr19:42065450..42067193-chr19:42070166..42071920,2	K562	blood:
42	chr19:41955388..41955916-chr19:42101364..42101971,2	K562	blood:
43	chr19:41954921..41955448-chr19:42069995..42070621,2	MCF-7	breast:
44	chr19:42071841..42072361-chr2:230045042..230045586,2	MCF-7	breast:
45	chr19:42116399..42118234-chr19:42119238..42121472,2	K562	blood:
46	chr19:42048044..42048836-chr19:42069540..42070426,2	K562	blood:
47	chr12:69104029..69104938-chr19:42147801..42148493,2	MCF-7	breast:
48	chr19:41832909..41835024-chr19:42101795..42103812,2	MCF-7	breast:
49	chr19:42124874..42127284-chr19:42129933..42131883,2	K562	blood:
50	chr19:42124874..42127284-chr19:42129933..42131883,2	K562	blood:

(count:21 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CEACAM4-4	chr19:42111696-42111867	NONHSAT066477
2	lnc-CEACAM21-4	chr19:42111318-42111576	NONHSAT066475
3	lnc-CEACAM21-1	chr19:42091796-42091848	NR_110107
4	lnc-CEACAM4-4	chr19:42111897-42112026	NONHSAT066477
5	lnc-CEACAM21-4	chr19:42111196-42112339	NONHSAT066476
6	lnc-CEACAM21-4	chr19:42106090-42106152	NONHSAT066475
7	lnc-CEACAM4-3	chr19:42146917-42146970	NONHSAT066480
8	lnc-CEACAM21-1	chr19:42083552-42083911	NR_110107
9	lnc-CEACAM4-1	chr19:42131941-42132334	NONHSAT066478
10	lnc-CEACAM21-1	chr19:42092817-42093197	NR_110107
11	lnc-CEACAM21-1	chr19:42090703-42090796	NR_110107
12	lnc-CEACAM21-4	chr19:42107567-42107882	NONHSAT066475
13	lnc-CEACAM4-1	chr19:42133268-42133442	NONHSAT066478
14	lnc-CEACAM4-3	chr19:42146027-42146227	NONHSAT066480
15	lnc-CEACAM21-1	chr19:42092193-42092224	NR_110107
16	lnc-CEACAM21-1	chr19:42082531-42082690	NR_110107
17	lnc-CEACAM4-2	chr19:42144937-42145267	NONHSAT066479
18	lnc-CEACAM21-1	chr19:42085623-42085981	NR_110107
19	lnc-CEACAM21-4	chr19:42108598-42108907	NONHSAT066476
20	lnc-CEACAM5-1	chr19:42156601-42156888	NONHSAT066481
21	lnc-CEACAM21-4	chr19:42110519-42110612	NONHSAT066476

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
ENSG00000007129	chromatin interactions
ENSG00000142039	chromatin interactions
ENSG00000177191	chromatin interactions
ENSG00000105352	chromatin interactions
ENSG00000269266	chromatin interactions
ENSG00000248098	chromatin interactions
ENSG00000268582	chromatin interactions
ENSG00000105341	chromatin interactions
ENSG00000239736	chromatin interactions
ENSG00000105329	chromatin interactions

Extended variants
information (count: 3555 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:3555 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4803480	chr19:42066279-42066280	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs573358132	chr19:42066295-42066296	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs535664379	chr19:42066300-42066301	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs557101162	chr19:42066319-42066320	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs140276040	chr19:42066349-42066350	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs181417166	chr19:42066351-42066352	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs142541290	chr19:42066362-42066363	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs150302322	chr19:42066383-42066384	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs573151503	chr19:42066388-42066389	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs550765655	chr19:42066413-42066414	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs562171239	chr19:42066415-42066416	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs368117193	chr19:42066420-42066421	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs184084581	chr19:42066453-42066454	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs570672352	chr19:42066456-42066457	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs558706271	chr19:42066508-42066509	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs58101348	chr19:42066550-42066551	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs4803481	chr19:42066556-42066557	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs74644023	chr19:42066605-42066606	Strong transcription Genic enhancers Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs551378061	chr19:42066623-42066624	Strong transcription Genic enhancers Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs566511014	chr19:42066624-42066625	Strong transcription Genic enhancers Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs137867021	chr19:42066638-42066639	Strong transcription Genic enhancers Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs4803482	chr19:42066641-42066642	Strong transcription Genic enhancers Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs188478402	chr19:42066662-42066663	Strong transcription Genic enhancers Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs149432607	chr19:42066691-42066692	Strong transcription Genic enhancers Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs12709854	chr19:42066737-42066738	Strong transcription Genic enhancers Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs12709855	chr19:42066757-42066758	Strong transcription Genic enhancers Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs569340615	chr19:42066791-42066792	Strong transcription Genic enhancers Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs180856825	chr19:42066794-42066795	Strong transcription Genic enhancers Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs75298386	chr19:42066837-42066838	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs573442665	chr19:42066846-42066847	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs370302881	chr19:42066933-42066934	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs575828090	chr19:42066978-42066979	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs186472217	chr19:42067055-42067056	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs9304594	chr19:42067065-42067066	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs555769276	chr19:42067083-42067084	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs191859756	chr19:42067127-42067128	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs182034745	chr19:42067216-42067217	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376376115	chr19:42067252-42067253	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186901716	chr19:42067350-42067351	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73560860	chr19:42067388-42067389	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs60453134	chr19:42067514-42067515	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545144034	chr19:42067519-42067520	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191737446	chr19:42067546-42067547	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138536295	chr19:42067628-42067629	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201465349	chr19:42067667-42067668	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548592344	chr19:42067700-42067701	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566904978	chr19:42067757-42067758	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs531344247	chr19:42067777-42067778	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs549460638	chr19:42067827-42067828	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs571273088	chr19:42067855-42067856	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Schizophrenia	18511947	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1039 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42058000-42069600	Weak transcription	Pancreas	Pancrea
2	chr19:42062200-42070000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr19:42062400-42069600	Weak transcription	Spleen	Spleen
4	chr19:42062600-42067400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr19:42062600-42067600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:42062600-42069400	Weak transcription	Thymus	Thymus
7	chr19:42062600-42069400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr19:42063200-42066600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr19:42063600-42066400	Genic enhancers	Primary T cells from cord blood	blood
10	chr19:42063600-42068200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:42064000-42068000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr19:42064000-42069000	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr19:42065000-42066600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr19:42065000-42066800	Strong transcription	Primary B cells from cord blood	blood
15	chr19:42065000-42067200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:42065000-42069600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr19:42065400-42066400	Genic enhancers	GM12878-XiMat	blood
18	chr19:42065400-42066600	Enhancers	Primary hematopoietic stem cells	blood
19	chr19:42065600-42066800	Genic enhancers	Primary B cells from peripheral blood	blood
20	chr19:42065600-42066800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr19:42065800-42066800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr19:42065800-42067000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr19:42066000-42066400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr19:42066000-42066800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr19:42066000-42067000	Genic enhancers	Primary T cells fromperipheralblood	blood
26	chr19:42066200-42066600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:42066400-42066600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr19:42066400-42068800	Weak transcription	GM12878-XiMat	blood
29	chr19:42066400-42069600	Weak transcription	Lung	lung
30	chr19:42066400-42069800	Enhancers	Primary T cells from cord blood	blood
31	chr19:42066600-42067200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
32	chr19:42066600-42067400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:42066600-42067800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
34	chr19:42066600-42069600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr19:42066600-42069600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr19:42066800-42067800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr19:42066800-42068400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr19:42066800-42069400	Weak transcription	Primary B cells from cord blood	blood
39	chr19:42066800-42069400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr19:42066800-42069800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr19:42067000-42067400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr19:42067000-42068400	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr19:42067200-42069400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:42067200-42070000	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr19:42067400-42067600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr19:42067400-42069400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:42067400-42069400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr19:42067600-42068000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr19:42067600-42069400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr19:42067800-42069600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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