Variant report

Variant	nsv912125
Chromosome Location	chr19:45310319-45321841
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	chr19:45311305-45311475	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:45310601-45310612	HepG2	liver:	n/a	n/a
3	ATF2	chr19:45311188-45311983	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr19:45311211-45311597	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr19:45317610-45317946	A549	lung:	n/a	n/a
6	BCL3	chr19:45311038-45312314	A549	lung:	n/a	chr19:45312244-45312257 chr19:45311679-45311692
7	BCL3	chr19:45310251-45310780	A549	lung:	n/a	n/a
8	BHLHE40	chr19:45310387-45310678	K562	blood:	n/a	chr19:45310514-45310535
9	BHLHE40	chr19:45311227-45311704	HepG2	liver:	n/a	n/a
10	BHLHE40	chr19:45312088-45312151	K562	blood:	n/a	chr19:45312124-45312140
11	BHLHE40	chr19:45310353-45310721	A549	lung:	n/a	chr19:45310514-45310535
12	BHLHE40	chr19:45311358-45311508	K562	blood:	n/a	n/a
13	BHLHE40	chr19:45310328-45310702	HepG2	liver:	n/a	chr19:45310514-45310535
14	BHLHE40	chr19:45310340-45310764	HepG2	liver:	n/a	chr19:45310514-45310535
15	BHLHE40	chr19:45310251-45310772	HepG2	liver:	n/a	chr19:45310514-45310535
16	BRCA1	chr19:45311981-45311985	HepG2	liver:	n/a	n/a
17	BRCA1	chr19:45311278-45311478	Hela-S3	cervix:	n/a	n/a
18	CCNT2	chr19:45311883-45312513	K562	blood:	n/a	n/a
19	CEBPD	chr19:45312272-45312522	HepG2	liver:	n/a	n/a
20	CEBPD	chr19:45315436-45315919	HepG2	liver:	n/a	n/a
21	CEBPD	chr19:45311160-45311701	HepG2	liver:	n/a	n/a
22	CEBPD	chr19:45311800-45312626	HepG2	liver:	n/a	n/a
23	CHD2	chr19:45311664-45311841	HepG2	liver:	n/a	n/a
24	CHD2	chr19:45311191-45312492	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr19:45315756-45315827	HepG2	liver:	n/a	n/a
26	CHD2	chr19:45312515-45312609	HepG2	liver:	n/a	n/a
27	CTBP2	chr19:45311164-45312186	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr19:45311254-45311537	MCF-7	breast:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
29	CTCF	chr19:45311340-45311490	HA-sp	spinal cord:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
30	CTCF	chr19:45311250-45311547	Gliobla	brain:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
31	CTCF	chr19:45316660-45316810	HBMEC	blood vessel:	n/a	n/a
32	CTCF	chr19:45311340-45311490	HCT-116	colon:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
33	CTCF	chr19:45311186-45311567	IMR90	lung:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
34	CTCF	chr19:45311360-45311510	AG04450	lung:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
35	CTCF	chr19:45311279-45311499	GM13977	blood:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
36	CTCF	chr19:45316720-45316723	MCF-7	breast:	n/a	n/a
37	CTCF	chr19:45311340-45311490	GM06990	blood:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
38	CTCF	chr19:45311258-45311531	A549	lung:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
39	CTCF	chr19:45311281-45311537	Kidney_OC	kidney:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
40	CTCF	chr19:45316700-45316850	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr19:45311260-45311410	MCF-7	breast:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
42	CTCF	chr19:45311300-45311450	AG10803	skin:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
43	CTCF	chr19:45311280-45311430	HBMEC	blood vessel:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
44	CTCF	chr19:45311246-45311536	GM19240	blood:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
45	CTCF	chr19:45311300-45311450	GM12864	blood:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
46	CTCF	chr19:45316640-45316790	HPAF	blood vessel:	n/a	n/a
47	CTCF	chr19:45311141-45311504	HepG2	liver:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
48	CTCF	chr19:45321065-45321235	HepG2	liver:	n/a	n/a
49	CTCF	chr19:45316624-45316821	K562	blood:	n/a	n/a
50	CTCF	chr19:45311280-45311430	WI-38	lung:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:45312060-45312110	A549	lung:	n/a
2	chr19:45317924-45317974	HEEpiC	esophagus:	n/a
3	chr19:45312525-45312575	HCF	heart:	n/a
4	chr19:45317345-45317395	AoSMC	blood vessel:	n/a
5	chr19:45312060-45312110	A549	lung:	n/a
6	chr19:45317924-45317974	HEEpiC	esophagus:	n/a
7	chr19:45312525-45312575	HCF	heart:	n/a
8	chr19:45317345-45317395	AoSMC	blood vessel:	n/a
9	chr19:45312525-45312575	HAEpiC	amniotic membrane:	n/a
10	chr19:45311997-45312047	Caco-2	colon:	n/a
11	chr19:45317924-45317974	SK-N-MC	brain:	n/a
12	chr19:45316493-45316543	AG09319	gingival:	n/a
13	chr19:45312060-45312110	T-47D	breast:	n/a
14	chr19:45316493-45316543	HCM	heart:	n/a
15	chr19:45316682-45316732	Hela-S3	cervix:	n/a
16	chr19:45316789-45316839	NH-A	brain:	n/a
17	chr19:45312060-45312110	HIPEpiC	eye:	n/a
18	chr19:45314566-45314616	T-47D	breast:	n/a
19	chr19:45312060-45312110	HRPEpiC	eye:	n/a
20	chr19:45312525-45312575	HCT-116	colon:	n/a
21	chr19:45315721-45315771	SK-N-SH	brain:	n/a
22	chr19:45312060-45312110	HMEC	breast:	n/a
23	chr19:45316682-45316732	T-47D	breast:	n/a
24	chr19:45316509-45316559	LNCaP	prostate:	n/a
25	chr19:45320727-45320777	Jurkat	blood:	n/a
26	chr19:45315721-45315771	HIPEpiC	eye:	n/a
27	chr19:45317924-45317974	GM19239	blood:	n/a
28	chr19:45311997-45312047	GM12878	blood:	n/a
29	chr19:45316789-45316839	ProgFib	skin:	n/a
30	chr19:45311997-45312047	HepG2	liver:	n/a
31	chr19:45315721-45315771	HRCEpiC	kidney:	n/a
32	chr19:45316789-45316839	Hela-S3	cervix:	n/a
33	chr19:45315572-45315622	HMEC	breast:	n/a
34	chr19:45311997-45312047	AG10803	skin:	n/a
35	chr19:45314566-45314616	BE2_C	brain:	n/a
36	chr19:45316682-45316732	NHBE	bronchial:	n/a
37	chr19:45312060-45312110	LNCaP	prostate:	n/a
38	chr19:45317924-45317974	U87	brain:	n/a
39	chr19:45315572-45315622	AG04449	skin:	fetal
40	chr19:45315572-45315622	ECC-1	luminal epithelium:	n/a
41	chr19:45317345-45317395	A549	lung:	n/a
42	chr19:45312060-45312110	HPAEpiC	pulmonary alveolar:	n/a
43	chr19:45316789-45316839	AG09319	gingival:	n/a
44	chr19:45316789-45316839	LNCaP	prostate:	n/a
45	chr19:45311868-45311918	GM12878	blood:	n/a
46	chr19:45316789-45316839	BE2_C	brain:	n/a
47	chr19:45316493-45316543	LNCaP	prostate:	n/a
48	chr19:45316493-45316543	AG04450	lung:	fetal
49	chr19:45312525-45312575	NT2-D1	testis:	n/a
50	chr19:45316509-45316559	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:45314166..45316980-chr19:45319168..45321407,2	K562	blood:
2	chr19:45223983..45225752-chr19:45308635..45310345,2	MCF-7	breast:
3	chr19:45308022..45312966-chr19:45346579..45352259,11	MCF-7	breast:
4	chr19:45258326..45260627-chr19:45310152..45311875,2	MCF-7	breast:
5	chr19:45305840..45308889-chr19:45308989..45312130,4	MCF-7	breast:
6	chr19:45309587..45312322-chr19:45456957..45459370,2	MCF-7	breast:
7	chr19:45316121..45318107-chr19:45322660..45325176,2	K562	blood:
8	chr19:45310566..45312166-chr19:45318337..45320547,2	K562	blood:
9	chr19:45256385..45258826-chr19:45310390..45312154,2	MCF-7	breast:
10	chr19:45250785..45254453-chr19:45309921..45313662,4	MCF-7	breast:
11	chr19:45298818..45303552-chr19:45309335..45312129,4	MCF-7	breast:
12	chr19:45310566..45312166-chr19:45318337..45320547,2	K562	blood:
13	chr19:45309583..45313633-chr19:45318151..45320547,3	K562	blood:
14	chr19:45316439..45318053-chr19:45349513..45351038,2	K562	blood:
15	chr19:45314362..45315171-chr19:45348110..45348929,2	K562	blood:
16	chr19:45309744..45311644-chr19:45324913..45327057,2	MCF-7	breast:
17	chr19:45311083..45313001-chr19:45347399..45349440,2	K562	blood:
18	chr19:45249129..45253567-chr19:45309146..45313529,6	MCF-7	breast:
19	chr19:45147379..45150123-chr19:45308817..45312008,3	MCF-7	breast:
20	chr19:45308884..45313334-chr19:45345353..45351688,18	MCF-7	breast:
21	chr19:45287462..45288194-chr19:45311126..45311751,2	MCF-7	breast:
22	chr19:45319025..45321568-chr19:45347128..45349441,3	MCF-7	breast:
23	chr19:45227043..45229115-chr19:45309849..45311993,3	MCF-7	breast:

Variant related genes	Relation type
BCAM	TF binding region
BCAM	CpG island
ENSG00000073008	chromatin interactions
ENSG00000267114	chromatin interactions
ENSG00000130202	chromatin interactions
ENSG00000069399	chromatin interactions
ENSG00000104853	chromatin interactions
ENSG00000187244	chromatin interactions

Extended variants
information (count: 565 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:565 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2965161	chr19:45310319-45310320	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370204088	chr19:45310357-45310358	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs549016358	chr19:45310401-45310402	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs568882046	chr19:45310419-45310420	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs578097718	chr19:45310435-45310436	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs537815136	chr19:45310618-45310619	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs551432808	chr19:45310656-45310657	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs80002675	chr19:45310666-45310667	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs545511692	chr19:45310679-45310680	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs571950806	chr19:45310719-45310720	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs534548342	chr19:45310723-45310724	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs138415270	chr19:45310743-45310744	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs554399834	chr19:45310786-45310787	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs374011742	chr19:45310840-45310841	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs557031906	chr19:45310870-45310871	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs574134936	chr19:45310934-45310935	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs536446875	chr19:45310947-45310948	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs556590938	chr19:45310965-45310966	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs187007475	chr19:45311083-45311084	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs140824606	chr19:45311084-45311085	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs191914779	chr19:45311114-45311115	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs73048258	chr19:45311144-45311145	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs149626525	chr19:45311153-45311154	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs577511423	chr19:45311172-45311173	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs374289380	chr19:45311187-45311188	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs79060456	chr19:45311272-45311273	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs529057621	chr19:45311288-45311289	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs199801493	chr19:45311298-45311299	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs200936382	chr19:45311306-45311307	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs560898656	chr19:45311310-45311311	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs373586946	chr19:45311320-45311321	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs148222844	chr19:45311325-45311326	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs551396047	chr19:45311327-45311328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs571307649	chr19:45311342-45311343	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs533776397	chr19:45311349-45311350	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs141254225	chr19:45311448-45311449	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs567884806	chr19:45311475-45311476	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs2927478	chr19:45311523-45311524	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs556512800	chr19:45311573-45311574	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs373974657	chr19:45311580-45311581	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs543935447	chr19:45311584-45311585	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs576458715	chr19:45311607-45311608	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs538793425	chr19:45311656-45311657	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs559536555	chr19:45311679-45311680	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs572061934	chr19:45311700-45311701	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs541048983	chr19:45311705-45311706	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs554000658	chr19:45311715-45311716	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs8113171	chr19:45311747-45311748	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs542787262	chr19:45311782-45311783	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs371350033	chr19:45311814-45311815	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Adrenocortical carcinoma	18281524	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Muscular dystrophy	17160897	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:785 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45281400-45311400	Weak transcription	Right Atrium	heart
2	chr19:45284800-45311400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr19:45294200-45311600	Weak transcription	Small Intestine	intestine
4	chr19:45296200-45310600	Weak transcription	Colonic Mucosa	Colon
5	chr19:45296800-45311000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr19:45297000-45311800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:45300600-45310400	Weak transcription	Stomach Mucosa	stomach
8	chr19:45300600-45311400	Weak transcription	Psoas Muscle	Psoas
9	chr19:45303800-45310600	Weak transcription	Hela-S3	cervix
10	chr19:45304000-45310400	Weak transcription	Esophagus	oesophagus
11	chr19:45304000-45310400	Weak transcription	Pancreas	Pancrea
12	chr19:45307400-45310400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr19:45307400-45311200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr19:45307600-45310400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr19:45307600-45310600	Weak transcription	Fetal Stomach	stomach
16	chr19:45307600-45310600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr19:45307600-45311200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr19:45307600-45311200	Weak transcription	Spleen	Spleen
19	chr19:45307600-45311400	Weak transcription	Lung	lung
20	chr19:45307800-45311400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr19:45309400-45311200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr19:45309400-45311800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:45309600-45310400	Enhancers	A549	lung
24	chr19:45309600-45310400	Enhancers	HepG2	liver
25	chr19:45309600-45311200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr19:45309600-45311400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr19:45309600-45311800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr19:45309600-45311800	Enhancers	Placenta	Placenta
29	chr19:45309600-45311800	Enhancers	HMEC	breast
30	chr19:45309600-45311800	Enhancers	NHEK	skin
31	chr19:45309800-45310600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
32	chr19:45309800-45310600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
33	chr19:45309800-45311200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr19:45309800-45311400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr19:45309800-45311400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:45309800-45311400	Enhancers	Fetal Heart	heart
37	chr19:45309800-45312000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr19:45310000-45311200	Weak transcription	NHLF	lung
39	chr19:45310000-45311600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr19:45310200-45310400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr19:45310200-45310400	Bivalent Enhancer	Fetal Brain Male	brain
42	chr19:45310200-45310800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:45310200-45311400	Enhancers	Liver	Liver
44	chr19:45310200-45311800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:45310200-45311800	Enhancers	Fetal Intestine Large	intestine
46	chr19:45310200-45311800	Enhancers	Fetal Intestine Small	intestine
47	chr19:45310200-45311800	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr19:45310200-45312000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr19:45310200-45312400	Enhancers	Gastric	stomach
50	chr19:45310400-45310600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin

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