Variant report

Variant	esv3422975
Chromosome Location	chr19:42106166-42212774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1713)
CpG islands
(count:1040)
Chromatin interactive
region (count:54)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1713 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:42195384-42195550	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:42148361-42148615	HepG2	liver:	n/a	n/a
3	ATF3	chr19:42210396-42211270	A549	lung:	n/a	n/a
4	ATF3	chr19:42210716-42211031	K562	blood:	n/a	n/a
5	BCL3	chr19:42205893-42206698	A549	lung:	n/a	chr19:42205950-42205959
6	BCL3	chr19:42205755-42206672	A549	lung:	n/a	chr19:42205950-42205959
7	BCL3	chr19:42195097-42195928	A549	lung:	n/a	n/a
8	BCL3	chr19:42210325-42211072	A549	lung:	n/a	n/a
9	BHLHE40	chr19:42210843-42211130	K562	blood:	n/a	n/a
10	BHLHE40	chr19:42148329-42148592	GM12878	blood:	n/a	n/a
11	BRCA1	chr19:42175497-42175768	Hela-S3	cervix:	n/a	n/a
12	CBX3	chr19:42170024-42170506	HCT-116	colon:	n/a	n/a
13	CBX3	chr19:42170022-42170413	HCT-116	colon:	n/a	n/a
14	CBX3	chr19:42170019-42170400	K562	blood:	n/a	n/a
15	CBX3	chr19:42210620-42211131	K562	blood:	n/a	n/a
16	CBX3	chr19:42170041-42170347	K562	blood:	n/a	n/a
17	CBX3	chr19:42150591-42150800	K562	blood:	n/a	n/a
18	CCNT2	chr19:42210774-42211033	K562	blood:	n/a	n/a
19	CEBPB	chr19:42171829-42172082	HepG2	liver:	n/a	chr19:42171916-42171927
20	CEBPB	chr19:42170784-42170971	A549	lung:	n/a	n/a
21	CEBPB	chr19:42118851-42119181	K562	blood:	n/a	chr19:42119020-42119031 chr19:42119021-42119030 chr19:42119019-42119032 chr19:42119019-42119030
22	CEBPB	chr19:42171770-42172084	A549	lung:	n/a	chr19:42171916-42171927
23	CEBPB	chr19:42206048-42206581	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr19:42110484-42110652	IMR90	lung:	n/a	chr19:42110585-42110596
25	CEBPB	chr19:42170807-42170839	K562	blood:	n/a	n/a
26	CEBPB	chr19:42171759-42172077	IMR90	lung:	n/a	chr19:42171916-42171927
27	CEBPB	chr19:42123244-42123427	K562	blood:	n/a	n/a
28	CEBPB	chr19:42210481-42210831	HepG2	liver:	n/a	chr19:42210571-42210582
29	CEBPB	chr19:42123238-42123522	HepG2	liver:	n/a	n/a
30	CEBPB	chr19:42148267-42148563	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr19:42150504-42150794	K562	blood:	n/a	chr19:42150628-42150641 chr19:42150630-42150641 chr19:42150630-42150641
32	CEBPB	chr19:42123191-42123505	IMR90	lung:	n/a	n/a
33	CEBPB	chr19:42150550-42150710	Hela-S3	cervix:	n/a	chr19:42150628-42150641 chr19:42150630-42150641 chr19:42150630-42150641
34	CEBPB	chr19:42118832-42119191	MCF-7	breast:	n/a	chr19:42119020-42119031 chr19:42119021-42119030 chr19:42119019-42119032 chr19:42119019-42119030
35	CEBPB	chr19:42185708-42185997	HepG2	liver:	n/a	chr19:42185842-42185853
36	CEBPB	chr19:42178145-42178428	HepG2	liver:	n/a	chr19:42178305-42178316
37	CEBPB	chr19:42123164-42123495	A549	lung:	n/a	n/a
38	CEBPB	chr19:42185694-42185965	IMR90	lung:	n/a	chr19:42185842-42185853
39	CEBPB	chr19:42170819-42170898	IMR90	lung:	n/a	n/a
40	CEBPB	chr19:42185750-42186044	K562	blood:	n/a	chr19:42185842-42185853
41	CEBPB	chr19:42110476-42110735	A549	lung:	n/a	chr19:42110585-42110596
42	CEBPB	chr19:42175452-42175871	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr19:42148206-42148538	A549	lung:	n/a	n/a
44	CEBPB	chr19:42110437-42110713	HepG2	liver:	n/a	chr19:42110585-42110596
45	CEBPB	chr19:42185595-42186173	A549	lung:	n/a	chr19:42185842-42185853
46	CEBPB	chr19:42210499-42210766	A549	lung:	n/a	chr19:42210571-42210582
47	CEBPB	chr19:42150582-42150748	IMR90	lung:	n/a	chr19:42150628-42150641 chr19:42150630-42150641 chr19:42150630-42150641
48	CEBPB	chr19:42118781-42119295	A549	lung:	n/a	chr19:42119020-42119031 chr19:42119021-42119030 chr19:42119019-42119032 chr19:42119019-42119030
49	CEBPB	chr19:42205863-42206694	A549	lung:	n/a	n/a
50	CEBPB	chr19:42150556-42150769	K562	blood:	n/a	chr19:42150628-42150641 chr19:42150630-42150641 chr19:42150630-42150641

(count:1040 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42133416-42133466	ovcar-3	ovarian:	n/a
2	chr19:42134128-42134178	ECC-1	luminal epithelium:	n/a
3	chr19:42211252-42211302	CMK	blood:	n/a
4	chr19:42133416-42133466	ovcar-3	ovarian:	n/a
5	chr19:42134128-42134178	ECC-1	luminal epithelium:	n/a
6	chr19:42211252-42211302	CMK	blood:	n/a
7	chr19:42134620-42134670	NT2-D1	testis:	n/a
8	chr19:42193084-42193134	Jurkat	blood:	n/a
9	chr19:42134478-42134528	NHBE	bronchial:	n/a
10	chr19:42211171-42211221	AG09319	gingival:	n/a
11	chr19:42211160-42211210	SK-N-MC	brain:	n/a
12	chr19:42193084-42193134	SK-N-SH	brain:	n/a
13	chr19:42212501-42212551	GM12878	blood:	n/a
14	chr19:42133416-42133466	HRCEpiC	kidney:	n/a
15	chr19:42211479-42211529	HL-60	blood:	n/a
16	chr19:42125367-42125417	NHBE	bronchial:	n/a
17	chr19:42212594-42212644	Hela-S3	cervix:	n/a
18	chr19:42133416-42133466	Caco-2	colon:	n/a
19	chr19:42134478-42134528	Hela-S3	cervix:	n/a
20	chr19:42133416-42133466	PFSK-1	brain:	n/a
21	chr19:42211171-42211221	PFSK-1	brain:	n/a
22	chr19:42211252-42211302	HCF	heart:	n/a
23	chr19:42192347-42192397	PrEC	prostate:	n/a
24	chr19:42211479-42211529	AG04450	lung:	fetal
25	chr19:42212594-42212644	U87	brain:	n/a
26	chr19:42125367-42125417	AG04450	lung:	fetal
27	chr19:42212594-42212644	CMK	blood:	n/a
28	chr19:42189514-42189564	SK-N-SH	brain:	n/a
29	chr19:42125367-42125417	CMK	blood:	n/a
30	chr19:42134478-42134528	GM12892	blood:	n/a
31	chr19:42134478-42134528	SK-N-SH	brain:	n/a
32	chr19:42134620-42134670	MCF10A-Er-Src	breast:	n/a
33	chr19:42134128-42134178	MCF10A-Er-Src	breast:	n/a
34	chr19:42212501-42212551	PFSK-1	brain:	n/a
35	chr19:42134620-42134670	GM19239	blood:	n/a
36	chr19:42133492-42133542	GM19239	blood:	n/a
37	chr19:42211171-42211221	ProgFib	skin:	n/a
38	chr19:42211160-42211210	GM19239	blood:	n/a
39	chr19:42191563-42191613	AG09319	gingival:	n/a
40	chr19:42193084-42193134	BJ	skin:	n/a
41	chr19:42193084-42193134	HIPEpiC	eye:	n/a
42	chr19:42189514-42189564	H1-hESC	embryonic stem cell:	embryo
43	chr19:42133492-42133542	HepG2	liver:	n/a
44	chr19:42191563-42191613	HEK293	kidney:	embryo
45	chr19:42192976-42193026	AG09319	gingival:	n/a
46	chr19:42211160-42211210	SK-N-SH_RA	brain:	n/a
47	chr19:42211252-42211302	GM06990	blood:	n/a
48	chr19:42193084-42193134	HCT-116	colon:	n/a
49	chr19:42211252-42211302	IMR90	lung:	fetal
50	chr19:42211479-42211529	NHBE	bronchial:	n/a

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:42201439..42203685-chr19:42204589..42206522,2	MCF-7	breast:
2	chr19:42192804..42194422-chr19:42196991..42198512,2	K562	blood:
3	chr19:42106606..42108496-chr19:42155878..42157427,2	MCF-7	breast:
4	chr19:42170762..42173510-chr19:42176907..42179632,2	K562	blood:
5	chr19:42147995..42149203-chr19:42195085..42195974,8	MCF-7	breast:
6	chr19:42147220..42149633-chr19:42250736..42252324,3	MCF-7	breast:
7	chr19:42118056..42120670-chr19:42122238..42124677,3	K562	blood:
8	chr19:42124874..42127284-chr19:42129933..42131883,2	K562	blood:
9	chr19:42122210..42124944-chr19:42127760..42129362,2	K562	blood:
10	chr19:42187020..42188703-chr19:42193918..42196262,2	K562	blood:
11	chr19:42116399..42118234-chr19:42119238..42121472,2	K562	blood:
12	chr19:42170762..42173510-chr19:42176907..42179632,2	K562	blood:
13	chr19:42210268..42210769-chr19:42257717..42258347,2	MCF-7	breast:
14	chr19:42199364..42201968-chr19:42204770..42207753,2	K562	blood:
15	chr19:42147580..42148927-chr19:42194859..42196377,8	MCF-7	breast:
16	chr19:42211491..42212027-chr19:42250292..42251139,2	K562	blood:
17	chr19:42168589..42171356-chr19:42173176..42175470,2	MCF-7	breast:
18	chr19:42147580..42148927-chr19:42194859..42196377,8	MCF-7	breast:
19	chr19:42199149..42200978-chr19:42202401..42204371,2	K562	blood:
20	chr19:42185660..42188707-chr19:42191136..42193889,3	K562	blood:
21	chr19:42192804..42194422-chr19:42196991..42198512,2	K562	blood:
22	chr19:42175293..42177532-chr19:42178658..42181248,2	K562	blood:
23	chr19:42148024..42148877-chr19:42195016..42195762,2	K562	blood:
24	chr19:42195068..42195942-chr19:42210669..42211245,2	MCF-7	breast:
25	chr19:41933534..41935688-chr19:42105256..42107275,2	K562	blood:
26	chr19:42168589..42171356-chr19:42173176..42175470,2	MCF-7	breast:
27	chr19:42211076..42212814-chr19:42288522..42291440,2	MCF-7	breast:
28	chr19:42116399..42118234-chr19:42119238..42121472,2	K562	blood:
29	chr19:42206272..42207887-chr19:42208137..42210800,2	K562	blood:
30	chr12:69104029..69104938-chr19:42147801..42148493,2	MCF-7	breast:
31	chr19:42147964..42148906-chr19:42250000..42251190,4	MCF-7	breast:
32	chr19:42204838..42207532-chr19:42209650..42212423,2	MCF-7	breast:
33	chr19:42201688..42202322-chr19:42210240..42210766,2	K562	blood:
34	chr19:42185627..42187160-chr19:42190673..42192636,2	K562	blood:
35	chr19:42201688..42202322-chr19:42210240..42210766,2	K562	blood:
36	chr19:42187020..42188703-chr19:42193918..42196262,2	K562	blood:
37	chr19:42147995..42149203-chr19:42195085..42195974,8	MCF-7	breast:
38	chr19:42148303..42148992-chr19:42250108..42251260,4	K562	blood:
39	chr19:42124874..42127284-chr19:42129933..42131883,2	K562	blood:
40	chr19:42199364..42201968-chr19:42204770..42207753,2	K562	blood:
41	chr19:42209137..42209823-chr19:42250235..42251244,3	MCF-7	breast:
42	chr19:42201439..42203685-chr19:42204589..42206522,2	MCF-7	breast:
43	chr19:42128745..42130555-chr19:42132891..42134764,2	MCF-7	breast:
44	chr19:42190379..42192601-chr19:42208251..42211218,2	K562	blood:
45	chr19:42194707..42197200-chr19:42201363..42204085,2	MCF-7	breast:
46	chr19:42148024..42148877-chr19:42195016..42195762,2	K562	blood:
47	chr19:42190379..42192601-chr19:42208251..42211218,2	K562	blood:
48	chr19:42175293..42177532-chr19:42178658..42181248,2	K562	blood:
49	chr19:42122210..42124944-chr19:42127760..42129362,2	K562	blood:
50	chr19:42118056..42120670-chr19:42122238..42124677,3	K562	blood:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CEACAM4-1	chr19:42133268-42133442	NONHSAT066478
2	lnc-CEACAM4-1	chr19:42131941-42132334	NONHSAT066478
3	lnc-CEACAM21-4	chr19:42111318-42111576	NONHSAT066475
4	lnc-CEACAM4-2	chr19:42144937-42145267	NONHSAT066479
5	lnc-CEACAM21-4	chr19:42107567-42107882	NONHSAT066475
6	lnc-CEACAM4-3	chr19:42146027-42146227	NONHSAT066480
7	lnc-CEACAM4-3	chr19:42146917-42146970	NONHSAT066480
8	lnc-CEACAM21-4	chr19:42111196-42112339	NONHSAT066476
9	lnc-CEACAM6-1	chr19:42212540-42212714	NONHSAT066483
10	lnc-CEACAM21-4	chr19:42110519-42110612	NONHSAT066476
11	lnc-CEACAM5-1	chr19:42156601-42156888	NONHSAT066481
12	lnc-CEACAM21-4	chr19:42108598-42108907	NONHSAT066476
13	lnc-CEACAM4-4	chr19:42111696-42111867	NONHSAT066477
14	lnc-CEACAM4-4	chr19:42111897-42112026	NONHSAT066477

No data

Variant related genes	Relation type
CEACAMP3	TF binding region
ENSG00000268582	TF binding region
CEACAM4	TF binding region
DNAJC19P2	TF binding region
CEACAM5	TF binding region
CEACAM7	TF binding region
DNAJC19P3	TF binding region
ENSG00000267881	TF binding region
ENSG00000269354	TF binding region
CEACAMP3	CpG island
ENSG00000268582	CpG island
CEACAM4	CpG island
DNAJC19P2	CpG island
CEACAM5	CpG island
CEACAM7	CpG island
DNAJC19P3	CpG island
ENSG00000267881	CpG island
ENSG00000269354	CpG island
ENSG00000177191	chromatin interactions
ENSG00000268582	chromatin interactions
ENSG00000007306	chromatin interactions
ENSG00000268833	chromatin interactions
ENSG00000105352	chromatin interactions

Extended variants
information (count: 3618 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:3618 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368139058	chr19:42106334-42106335	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs543688684	chr19:42106335-42106336	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs564963658	chr19:42106336-42106337	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs144109281	chr19:42106344-42106345	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs16975391	chr19:42106353-42106354	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs16975393	chr19:42106367-42106368	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs16975395	chr19:42106378-42106379	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs549412769	chr19:42106407-42106408	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567978879	chr19:42106439-42106440	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs567661921	chr19:42106476-42106477	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs561504369	chr19:42106497-42106498	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs115323489	chr19:42106503-42106504	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs534992715	chr19:42106504-42106505	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571388307	chr19:42106561-42106562	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs538770909	chr19:42106562-42106563	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs554104892	chr19:42106563-42106564	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs376661077	chr19:42106636-42106637	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs572360539	chr19:42106650-42106651	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs112932048	chr19:42106680-42106681	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs188232189	chr19:42106728-42106729	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs182237809	chr19:42106798-42106799	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs577640753	chr19:42106831-42106832	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs538603645	chr19:42106855-42106856	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs4405658	chr19:42106877-42106878	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs79229924	chr19:42106888-42106889	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs140912353	chr19:42106918-42106919	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs187383560	chr19:42106935-42106936	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs376317275	chr19:42106957-42106958	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs190162708	chr19:42106970-42106971	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs369631125	chr19:42106977-42106978	Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs530524424	chr19:42107004-42107005	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs548206293	chr19:42107020-42107021	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs561229550	chr19:42107034-42107035	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs181604274	chr19:42107047-42107048	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs565257468	chr19:42107090-42107091	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs549935734	chr19:42107142-42107143	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs571526216	chr19:42107185-42107186	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs561715586	chr19:42107203-42107204	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs1029804	chr19:42107207-42107208	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs547578891	chr19:42107211-42107212	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs566211547	chr19:42107276-42107277	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs185549088	chr19:42107338-42107339	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs34608269	chr19:42107339-42107340	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs147328733	chr19:42107406-42107407	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs111362097	chr19:42107408-42107409	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs79673284	chr19:42107411-42107412	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs59556129	chr19:42107414-42107415	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs57571436	chr19:42107415-42107416	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs558744703	chr19:42107416-42107417	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs577115466	chr19:42107421-42107422	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:484 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42104200-42115000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr19:42105400-42107000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:42105400-42108600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr19:42105600-42106200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:42105600-42107200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
6	chr19:42106000-42106200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:42106000-42106600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
8	chr19:42106000-42106600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr19:42106200-42106400	Bivalent Enhancer	A549	lung
10	chr19:42106400-42106600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
11	chr19:42106400-42106600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
12	chr19:42106400-42106800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
13	chr19:42106600-42107200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
14	chr19:42106800-42107200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
15	chr19:42107000-42107200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:42115000-42115400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr19:42115400-42117200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr19:42117000-42117400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr19:42117000-42117800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr19:42117200-42121400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr19:42117400-42118600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr19:42117800-42118800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr19:42118200-42131600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:42118400-42119400	Enhancers	Primary B cells from cord blood	blood
25	chr19:42118600-42119800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr19:42118800-42119600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr19:42118800-42125200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr19:42119200-42119400	Enhancers	Spleen	Spleen
29	chr19:42119400-42119600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
30	chr19:42119400-42123000	Weak transcription	Spleen	Spleen
31	chr19:42119600-42121400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr19:42119800-42121400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr19:42121400-42124800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr19:42121400-42125600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
35	chr19:42121400-42125800	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr19:42121800-42122000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr19:42121800-42122000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr19:42121800-42122200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:42122000-42122200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
40	chr19:42122000-42127400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr19:42122000-42130600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr19:42122200-42125600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr19:42122800-42125800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr19:42123000-42124000	Enhancers	Spleen	Spleen
45	chr19:42123000-42128000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:42123200-42123800	Enhancers	Lung	lung
47	chr19:42124000-42127800	Weak transcription	Spleen	Spleen
48	chr19:42124600-42127600	Enhancers	Primary B cells from cord blood	blood
49	chr19:42124800-42125400	Genic enhancers	Primary monocytes fromperipheralblood	blood
50	chr19:42125200-42129200	Enhancers	Primary hematopoietic stem cells	blood

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