Variant report

Variant	nsv912126
Chromosome Location	chr19:45311523-45317089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:376)
CpG islands
(count:735)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:376 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr19:45311188-45311983	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr19:45311211-45311597	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr19:45311038-45312314	A549	lung:	n/a	chr19:45312244-45312257 chr19:45311679-45311692
4	BHLHE40	chr19:45311227-45311704	HepG2	liver:	n/a	n/a
5	BHLHE40	chr19:45312088-45312151	K562	blood:	n/a	chr19:45312124-45312140
6	BRCA1	chr19:45311981-45311985	HepG2	liver:	n/a	n/a
7	CCNT2	chr19:45311883-45312513	K562	blood:	n/a	n/a
8	CEBPD	chr19:45311160-45311701	HepG2	liver:	n/a	n/a
9	CEBPD	chr19:45311800-45312626	HepG2	liver:	n/a	n/a
10	CEBPD	chr19:45312272-45312522	HepG2	liver:	n/a	n/a
11	CEBPD	chr19:45315436-45315919	HepG2	liver:	n/a	n/a
12	CHD2	chr19:45311191-45312492	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr19:45312515-45312609	HepG2	liver:	n/a	n/a
14	CHD2	chr19:45311664-45311841	HepG2	liver:	n/a	n/a
15	CHD2	chr19:45315756-45315827	HepG2	liver:	n/a	n/a
16	CTBP2	chr19:45311164-45312186	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr19:45316660-45316810	HA-sp	spinal cord:	n/a	n/a
18	CTCF	chr19:45316660-45316810	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr19:45316620-45316770	HBMEC	blood vessel:	n/a	n/a
20	CTCF	chr19:45316580-45316730	HCT-116	colon:	n/a	n/a
21	CTCF	chr19:45311520-45311670	HFF	foreskin:	n/a	n/a
22	CTCF	chr19:45316660-45316810	BE2_C	brain:	n/a	n/a
23	CTCF	chr19:45316700-45316850	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr19:45311380-45311530	GM12866	blood:	n/a	n/a
25	CTCF	chr19:45311272-45311524	MCF-7	breast:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
26	CTCF	chr19:45316740-45316890	MCF-7	breast:	n/a	n/a
27	CTCF	chr19:45316624-45316821	K562	blood:	n/a	n/a
28	CTCF	chr19:45316660-45316810	HAc	cerebellar:	n/a	n/a
29	CTCF	chr19:45316752-45316836	Kidney_OC	kidney:	n/a	n/a
30	CTCF	chr19:45316680-45316830	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr19:45311193-45311552	H1-hESC	embryonic stem cell:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
32	CTCF	chr19:45311151-45311601	K562	blood:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
33	CTCF	chr19:45316640-45316790	HPAF	blood vessel:	n/a	n/a
34	CTCF	chr19:45311620-45311770	GM12878	blood:	n/a	n/a
35	CTCF	chr19:45311147-45311536	A549	lung:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
36	CTCF	chr19:45311281-45311537	Kidney_OC	kidney:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
37	CTCF	chr19:45311138-45311550	K562	blood:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
38	CTCF	chr19:45311251-45311541	NHEK	skin:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
39	CTCF	chr19:45311380-45311530	SAEC	small airway:	n/a	n/a
40	CTCF	chr19:45311046-45311684	K562	blood:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
41	CTCF	chr19:45316720-45316870	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr19:45311266-45311536	H1-hESC	embryonic stem cell:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
43	CTCF	chr19:45311400-45311550	GM12864	blood:	n/a	n/a
44	CTCF	chr19:45311520-45311670	GM12865	blood:	n/a	n/a
45	CTCF	chr19:45311252-45311530	MCF-7	breast:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
46	CTCF	chr19:45316660-45316810	HRE	kidney:	n/a	n/a
47	CTCF	chr19:45316700-45316850	A549	lung:	n/a	n/a
48	CTCF	chr19:45312080-45312230	AG04449	skin:	n/a	n/a
49	CTCF	chr19:45311080-45311648	MCF-7	breast:	n/a	chr19:45311365-45311386 chr19:45311370-45311388 chr19:45311371-45311387
50	CTCF	chr19:45311760-45311910	SAEC	small airway:	n/a	n/a

(count:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:45312060-45312110	PrEC	prostate:	n/a
2	chr19:45316789-45316839	AG09309	skin:	n/a
3	chr19:45314566-45314616	SKMC	muscle:	n/a
4	chr19:45312060-45312110	PrEC	prostate:	n/a
5	chr19:45316789-45316839	AG09309	skin:	n/a
6	chr19:45314566-45314616	SKMC	muscle:	n/a
7	chr19:45311781-45311831	SK-N-SH	brain:	n/a
8	chr19:45316789-45316839	Jurkat	blood:	n/a
9	chr19:45311868-45311918	T-47D	breast:	n/a
10	chr19:45311997-45312047	PANC-1	pancreas:	n/a
11	chr19:45315721-45315771	SK-N-MC	brain:	n/a
12	chr19:45316682-45316732	SAEC	small airway:	n/a
13	chr19:45314566-45314616	HCPEpiC	choroid plexus:	n/a
14	chr19:45315721-45315771	Hepatocyte	liver:	n/a
15	chr19:45314566-45314616	HRCEpiC	kidney:	n/a
16	chr19:45311997-45312047	HepG2	liver:	n/a
17	chr19:45316509-45316559	ECC-1	luminal epithelium:	n/a
18	chr19:45311781-45311831	SK-N-MC	brain:	n/a
19	chr19:45311997-45312047	NH-A	brain:	n/a
20	chr19:45316789-45316839	HPAEpiC	pulmonary alveolar:	n/a
21	chr19:45315721-45315771	HUVEC	blood vessel:	n/a
22	chr19:45315572-45315622	SK-N-SH_RA	brain:	n/a
23	chr19:45311868-45311918	SK-N-MC	brain:	n/a
24	chr19:45311781-45311831	HCM	heart:	n/a
25	chr19:45315572-45315622	AoSMC	blood vessel:	n/a
26	chr19:45315721-45315771	PANC-1	pancreas:	n/a
27	chr19:45315721-45315771	HMEC	breast:	n/a
28	chr19:45312525-45312575	ProgFib	skin:	n/a
29	chr19:45312525-45312575	PrEC	prostate:	n/a
30	chr19:45311868-45311918	HAEpiC	amniotic membrane:	n/a
31	chr19:45311997-45312047	ECC-1	luminal epithelium:	n/a
32	chr19:45311868-45311918	LNCaP	prostate:	n/a
33	chr19:45311997-45312047	HL-60	blood:	n/a
34	chr19:45314566-45314616	SK-N-SH	brain:	n/a
35	chr19:45311781-45311831	HRCEpiC	kidney:	n/a
36	chr19:45316493-45316543	LNCaP	prostate:	n/a
37	chr19:45316509-45316559	HMEC	breast:	n/a
38	chr19:45312525-45312575	SKMC	muscle:	n/a
39	chr19:45315572-45315622	GM19239	blood:	n/a
40	chr19:45316789-45316839	GM12891	blood:	n/a
41	chr19:45311781-45311831	HIPEpiC	eye:	n/a
42	chr19:45315721-45315771	Hela-S3	cervix:	n/a
43	chr19:45316509-45316559	PANC-1	pancreas:	n/a
44	chr19:45311997-45312047	AG10803	skin:	n/a
45	chr19:45316789-45316839	HEEpiC	esophagus:	n/a
46	chr19:45315572-45315622	Caco-2	colon:	n/a
47	chr19:45315572-45315622	MCF-7	breast:	n/a
48	chr19:45312525-45312575	AG04450	lung:	fetal
49	chr19:45315572-45315622	NB4	blood:	n/a
50	chr19:45311997-45312047	NHBE	bronchial:	n/a

(count:18 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 298 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	rs562589701	chr19:45311826-45311827	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
15	rs553012417	chr19:45311837-45311838	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs569187559	chr19:45311869-45311870	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
17	rs545087585	chr19:45311914-45311915	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
18	rs564973598	chr19:45311916-45311917	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
19	rs28399598	chr19:45311924-45311925	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs397844216	chr19:45311928-45311929	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs527248165	chr19:45311931-45311932	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs547090476	chr19:45312005-45312006	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs2967671	chr19:45312036-45312037	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs150778953	chr19:45312113-45312114	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:650 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45294200-45311600	Weak transcription	Small Intestine	intestine
2	chr19:45297000-45311800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:45309400-45311800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr19:45309600-45311800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr19:45309600-45311800	Enhancers	Placenta	Placenta
6	chr19:45309600-45311800	Enhancers	HMEC	breast
7	chr19:45309600-45311800	Enhancers	NHEK	skin
8	chr19:45309800-45312000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr19:45310000-45311600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr19:45310200-45311800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:45310200-45311800	Enhancers	Fetal Intestine Large	intestine
12	chr19:45310200-45311800	Enhancers	Fetal Intestine Small	intestine
13	chr19:45310200-45311800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr19:45310200-45312000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr19:45310200-45312400	Enhancers	Gastric	stomach
16	chr19:45310400-45311600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:45310400-45311600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr19:45310400-45311600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr19:45310400-45311800	Enhancers	Fetal Muscle Trunk	muscle
20	chr19:45310400-45311800	Enhancers	Pancreas	Pancrea
21	chr19:45310400-45311800	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr19:45310400-45312000	Enhancers	Stomach Mucosa	stomach
23	chr19:45310400-45312200	Flanking Active TSS	A549	lung
24	chr19:45310400-45312400	Enhancers	Esophagus	oesophagus
25	chr19:45310600-45311600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr19:45310600-45311800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr19:45310600-45311800	Enhancers	Colonic Mucosa	Colon
28	chr19:45310600-45311800	Enhancers	Fetal Muscle Leg	muscle
29	chr19:45310600-45311800	Enhancers	Fetal Stomach	stomach
30	chr19:45310600-45311800	Enhancers	HSMMtube	muscle
31	chr19:45310800-45311600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr19:45310800-45311600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr19:45310800-45311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr19:45310800-45311800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr19:45310800-45311800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:45311000-45311800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr19:45311000-45311800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr19:45311000-45311800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr19:45311000-45312000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr19:45311000-45312000	Enhancers	Brain Angular Gyrus	brain
41	chr19:45311200-45311600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr19:45311200-45311600	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr19:45311200-45311600	Flanking Active TSS	Hela-S3	cervix
44	chr19:45311200-45311800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr19:45311200-45311800	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr19:45311200-45311800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr19:45311200-45311800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:45311200-45311800	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr19:45311200-45311800	Enhancers	Colon Smooth Muscle	Colon
50	chr19:45311200-45311800	Enhancers	Left Ventricle	heart

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