Variant report

Variant	nsv912128
Chromosome Location	chr19:45312114-45321841
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:275)
CpG islands
(count:673)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr19:45317610-45317946	A549	lung:	n/a	n/a
2	BCL3	chr19:45311038-45312314	A549	lung:	n/a	chr19:45312244-45312257 chr19:45311679-45311692
3	BHLHE40	chr19:45312088-45312151	K562	blood:	n/a	chr19:45312124-45312140
4	CCNT2	chr19:45311883-45312513	K562	blood:	n/a	n/a
5	CEBPD	chr19:45312272-45312522	HepG2	liver:	n/a	n/a
6	CEBPD	chr19:45315436-45315919	HepG2	liver:	n/a	n/a
7	CEBPD	chr19:45311800-45312626	HepG2	liver:	n/a	n/a
8	CHD2	chr19:45312515-45312609	HepG2	liver:	n/a	n/a
9	CHD2	chr19:45311191-45312492	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr19:45315756-45315827	HepG2	liver:	n/a	n/a
11	CTBP2	chr19:45311164-45312186	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr19:45316720-45316870	AG04450	lung:	n/a	n/a
13	CTCF	chr19:45316668-45316859	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr19:45316640-45316790	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr19:45316700-45316850	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr19:45316740-45316890	HEK293	kidney:	n/a	n/a
17	CTCF	chr19:45312340-45312490	AG04449	skin:	n/a	n/a
18	CTCF	chr19:45316660-45316810	HAc	cerebellar:	n/a	n/a
19	CTCF	chr19:45312436-45312484	NHEK	skin:	n/a	n/a
20	CTCF	chr19:45316600-45316949	H1-hESC	embryonic stem cell:	n/a	chr19:45316940-45316949
21	CTCF	chr19:45321065-45321235	HepG2	liver:	n/a	n/a
22	CTCF	chr19:45316680-45316830	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr19:45316600-45316750	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr19:45316740-45316890	MCF-7	breast:	n/a	n/a
25	CTCF	chr19:45316660-45316810	AG04449	skin:	n/a	n/a
26	CTCF	chr19:45316561-45316869	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr19:45316720-45316870	HCFaa	heart:	n/a	n/a
28	CTCF	chr19:45316752-45316836	Kidney_OC	kidney:	n/a	n/a
29	CTCF	chr19:45316700-45316850	HPF	lung:	n/a	n/a
30	CTCF	chr19:45321020-45321170	HepG2	liver:	n/a	n/a
31	CTCF	chr19:45310852-45312815	A549	lung:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
32	CTCF	chr19:45321085-45321188	HepG2	liver:	n/a	n/a
33	CTCF	chr19:45316640-45316790	BJ	skin:	n/a	n/a
34	CTCF	chr19:45317440-45317590	GM12865	blood:	n/a	n/a
35	CTCF	chr19:45316660-45316810	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr19:45316760-45316910	HEEpiC	esophagus:	n/a	n/a
37	CTCF	chr19:45316660-45316810	HRE	kidney:	n/a	n/a
38	CTCF	chr19:45316580-45316730	HCT-116	colon:	n/a	n/a
39	CTCF	chr19:45316640-45316790	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr19:45316660-45316810	AG04450	lung:	n/a	n/a
41	CTCF	chr19:45316660-45316810	BE2_C	brain:	n/a	n/a
42	CTCF	chr19:45316700-45316850	A549	lung:	n/a	n/a
43	CTCF	chr19:45316640-45316790	HFF-Myc	foreskin:	n/a	n/a
44	CTCF	chr19:45316660-45316810	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr19:45316640-45316790	HepG2	liver:	n/a	n/a
46	CTCF	chr19:45316740-45316890	BJ	skin:	n/a	n/a
47	CTCF	chr19:45316680-45316830	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr19:45321060-45321210	Caco-2	colon:	n/a	n/a
49	CTCF	chr19:45316680-45316830	RPTEC	kidney:	n/a	n/a
50	CTCF	chr19:45316620-45316770	HBMEC	blood vessel:	n/a	n/a

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:45316509-45316559	HepG2	liver:	n/a
2	chr19:45316509-45316559	LNCaP	prostate:	n/a
3	chr19:45316509-45316559	HepG2	liver:	n/a
4	chr19:45316509-45316559	LNCaP	prostate:	n/a
5	chr19:45316789-45316839	HNPCEpiC	eye:	n/a
6	chr19:45317924-45317974	SK-N-MC	brain:	n/a
7	chr19:45317924-45317974	K562	blood:	n/a
8	chr19:45316493-45316543	MCF10A-Er-Src	breast:	n/a
9	chr19:45317924-45317974	HRPEpiC	eye:	n/a
10	chr19:45314566-45314616	HMEC	breast:	n/a
11	chr19:45317924-45317974	H1-hESC	embryonic stem cell:	embryo
12	chr19:45312525-45312575	IMR90	lung:	fetal
13	chr19:45320727-45320777	ovcar-3	ovarian:	n/a
14	chr19:45316682-45316732	HL-60	blood:	n/a
15	chr19:45314566-45314616	HNPCEpiC	eye:	n/a
16	chr19:45316789-45316839	H1-hESC	embryonic stem cell:	embryo
17	chr19:45317924-45317974	LNCaP	prostate:	n/a
18	chr19:45314566-45314616	AG04449	skin:	fetal
19	chr19:45316789-45316839	Hepatocyte	liver:	n/a
20	chr19:45316682-45316732	GM19239	blood:	n/a
21	chr19:45316682-45316732	SK-N-SH_RA	brain:	n/a
22	chr19:45316509-45316559	PFSK-1	brain:	n/a
23	chr19:45316789-45316839	AG04450	lung:	fetal
24	chr19:45314566-45314616	MCF-7	breast:	n/a
25	chr19:45315721-45315771	SAEC	small airway:	n/a
26	chr19:45316493-45316543	NH-A	brain:	n/a
27	chr19:45320727-45320777	NHDF-neo	bronchial:	n/a
28	chr19:45315572-45315622	MCF10A-Er-Src	breast:	n/a
29	chr19:45317924-45317974	HL-60	blood:	n/a
30	chr19:45320727-45320777	AG10803	skin:	n/a
31	chr19:45312525-45312575	CMK	blood:	n/a
32	chr19:45316789-45316839	GM19239	blood:	n/a
33	chr19:45316789-45316839	SKMC	muscle:	n/a
34	chr19:45315721-45315771	HAEpiC	amniotic membrane:	n/a
35	chr19:45316789-45316839	HAEpiC	amniotic membrane:	n/a
36	chr19:45314566-45314616	HPAEpiC	pulmonary alveolar:	n/a
37	chr19:45312525-45312575	GM12891	blood:	n/a
38	chr19:45320727-45320777	HEK293	kidney:	embryo
39	chr19:45315721-45315771	CMK	blood:	n/a
40	chr19:45316509-45316559	NB4	blood:	n/a
41	chr19:45316682-45316732	IMR90	lung:	fetal
42	chr19:45315721-45315771	SK-N-SH_RA	brain:	n/a
43	chr19:45316493-45316543	RPTEC	kidney:	n/a
44	chr19:45314566-45314616	T-47D	breast:	n/a
45	chr19:45315721-45315771	PFSK-1	brain:	n/a
46	chr19:45316789-45316839	IMR90	lung:	fetal
47	chr19:45315721-45315771	HRE	kidney:	n/a
48	chr19:45316682-45316732	SK-N-MC	brain:	n/a
49	chr19:45317345-45317395	HRPEpiC	eye:	n/a
50	chr19:45316682-45316732	HNPCEpiC	eye:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45309587..45312322-chr19:45456957..45459370,2	MCF-7	breast:
2	chr19:45308022..45312966-chr19:45346579..45352259,11	MCF-7	breast:
3	chr19:45249129..45253567-chr19:45309146..45313529,6	MCF-7	breast:
4	chr19:45298818..45303552-chr19:45309335..45312129,4	MCF-7	breast:
5	chr19:45316121..45318107-chr19:45322660..45325176,2	K562	blood:
6	chr19:45310566..45312166-chr19:45318337..45320547,2	K562	blood:
7	chr19:45256385..45258826-chr19:45310390..45312154,2	MCF-7	breast:
8	chr19:45319025..45321568-chr19:45347128..45349441,3	MCF-7	breast:
9	chr19:45308884..45313334-chr19:45345353..45351688,18	MCF-7	breast:
10	chr19:45309583..45313633-chr19:45318151..45320547,3	K562	blood:
11	chr19:45311083..45313001-chr19:45347399..45349440,2	K562	blood:
12	chr19:45314362..45315171-chr19:45348110..45348929,2	K562	blood:
13	chr19:45310566..45312166-chr19:45318337..45320547,2	K562	blood:
14	chr19:45316439..45318053-chr19:45349513..45351038,2	K562	blood:
15	chr19:45250785..45254453-chr19:45309921..45313662,4	MCF-7	breast:
16	chr19:45314166..45316980-chr19:45319168..45321407,2	K562	blood:
17	chr19:45305840..45308889-chr19:45308989..45312130,4	MCF-7	breast:

No data

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

Extended variants
information (count: 504 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs922387	chr19:45312114-45312115	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569761687	chr19:45312120-45312121	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs12462630	chr19:45312165-45312166	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs184519252	chr19:45312184-45312185	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs538856570	chr19:45312203-45312204	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs558598225	chr19:45312225-45312226	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs111616807	chr19:45312250-45312251	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs565853183	chr19:45312331-45312332	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs372576336	chr19:45312352-45312353	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs558037816	chr19:45312364-45312365	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs28399599	chr19:45312376-45312377	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs534683755	chr19:45312401-45312402	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs28399600	chr19:45312408-45312409	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs566179679	chr19:45312412-45312413	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs542599529	chr19:45312459-45312460	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs556433466	chr19:45312481-45312482	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs576255497	chr19:45312490-45312491	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs190102352	chr19:45312497-45312498	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs564937889	chr19:45312523-45312524	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs182323481	chr19:45312550-45312551	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs377096258	chr19:45312552-45312553	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs560767759	chr19:45312555-45312556	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs530410733	chr19:45312565-45312566	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs28399646	chr19:45312603-45312604	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs570036564	chr19:45312605-45312606	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs532535320	chr19:45312608-45312609	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs185425567	chr19:45312714-45312715	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs28399647	chr19:45312738-45312739	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs186923147	chr19:45312744-45312745	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs960483	chr19:45312749-45312750	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs113748136	chr19:45312787-45312788	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs371901281	chr19:45312929-45312930	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs568325887	chr19:45312956-45312957	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs537459543	chr19:45312977-45312978	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs556153837	chr19:45312978-45312979	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs576417677	chr19:45312983-45312984	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs28399601	chr19:45313016-45313017	Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs10426086	chr19:45313017-45313018	Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs369559378	chr19:45313028-45313029	Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs572167557	chr19:45313034-45313035	Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs535073866	chr19:45313060-45313061	Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs566903137	chr19:45313111-45313112	Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs112517847	chr19:45313113-45313114	Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs28399602	chr19:45313117-45313118	Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs2967672	chr19:45313136-45313137	Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs574305977	chr19:45313141-45313142	Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs543421042	chr19:45313224-45313225	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs373978829	chr19:45313230-45313231	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs563624444	chr19:45313271-45313272	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs532696029	chr19:45313293-45313294	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 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:623 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45310200-45312400	Enhancers	Gastric	stomach
2	chr19:45310400-45312200	Flanking Active TSS	A549	lung
3	chr19:45310400-45312400	Enhancers	Esophagus	oesophagus
4	chr19:45311200-45312200	Flanking Active TSS	Fetal Lung	lung
5	chr19:45311200-45312400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:45311200-45312400	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr19:45311200-45313000	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr19:45311400-45312200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr19:45311400-45312200	Flanking Active TSS	Liver	Liver
10	chr19:45311400-45312200	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr19:45311400-45312200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:45311400-45312200	Flanking Active TSS	Osteobl	bone
13	chr19:45311400-45312400	Enhancers	NHDF-Ad	bronchial
14	chr19:45311400-45312600	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr19:45311400-45312600	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr19:45311400-45312800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:45311400-45312800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:45311400-45313000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr19:45311400-45313600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr19:45311400-45314200	Active TSS	Fetal Kidney	kidney
21	chr19:45311600-45312200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
22	chr19:45311600-45312200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:45311600-45312200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr19:45311600-45312400	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr19:45311600-45312400	Enhancers	Small Intestine	intestine
26	chr19:45311600-45312600	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr19:45311600-45312800	Active TSS	H9 Cell Line	embryonic stem cell
28	chr19:45311600-45313000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:45311800-45312200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr19:45311800-45312200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr19:45311800-45312200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr19:45311800-45312200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr19:45311800-45312200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr19:45311800-45312200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr19:45311800-45312200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr19:45311800-45312200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:45311800-45312200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:45311800-45312200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr19:45311800-45312200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr19:45311800-45312200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr19:45311800-45312200	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr19:45311800-45312200	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr19:45311800-45312200	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr19:45311800-45312200	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr19:45311800-45312200	Flanking Active TSS	Fetal Muscle Trunk	muscle
46	chr19:45311800-45312200	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr19:45311800-45312200	Flanking Active TSS	Placenta	Placenta
48	chr19:45311800-45312200	Flanking Active TSS	Fetal Stomach	stomach
49	chr19:45311800-45312200	Flanking Active TSS	Ovary	ovary
50	chr19:45311800-45312200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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