Variant report

Variant	esv3345432
Chromosome Location	chr19:18652252-18655950
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:579)
CpG islands
(count:488)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:579 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:18654723-18655389	K562	blood:	n/a	n/a
2	ATF1	chr19:18654709-18655209	K562	blood:	n/a	n/a
3	ATF2	chr19:18654677-18655190	GM12878	blood:	n/a	n/a
4	ATF2	chr19:18654720-18655068	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr19:18654747-18655106	K562	blood:	n/a	n/a
6	BCL3	chr19:18654653-18655249	K562	blood:	n/a	n/a
7	BCLAF1	chr19:18654656-18655175	K562	blood:	n/a	n/a
8	BCLAF1	chr19:18654639-18655145	GM12878	blood:	n/a	n/a
9	BCLAF1	chr19:18654617-18655225	K562	blood:	n/a	n/a
10	BHLHE40	chr19:18654660-18655082	GM12878	blood:	n/a	n/a
11	BHLHE40	chr19:18653850-18654041	GM12878	blood:	n/a	chr19:18653936-18653952
12	BHLHE40	chr19:18653849-18653869	K562	blood:	n/a	n/a
13	BHLHE40	chr19:18655805-18655820	HepG2	liver:	n/a	n/a
14	BHLHE40	chr19:18654701-18655935	K562	blood:	n/a	n/a
15	BRCA1	chr19:18654814-18655014	GM12878	blood:	n/a	n/a
16	CBX3	chr19:18654720-18655204	K562	blood:	n/a	n/a
17	CBX3	chr19:18654619-18655458	K562	blood:	n/a	n/a
18	CCNT2	chr19:18654368-18655218	K562	blood:	n/a	chr19:18654390-18654399 chr19:18655020-18655040
19	CCNT2	chr19:18653932-18653960	K562	blood:	n/a	n/a
20	CEBPB	chr19:18655566-18655713	A549	lung:	n/a	chr19:18655618-18655629
21	CEBPB	chr19:18655566-18655732	HepG2	liver:	n/a	chr19:18655618-18655629
22	CEBPB	chr19:18654839-18655780	K562	blood:	n/a	chr19:18655618-18655629
23	CEBPB	chr19:18654663-18655942	K562	blood:	n/a	chr19:18655618-18655629
24	CEBPD	chr19:18654164-18654632	HepG2	liver:	n/a	n/a
25	CEBPD	chr19:18654642-18655360	K562	blood:	n/a	n/a
26	CEBPD	chr19:18654573-18655402	K562	blood:	n/a	n/a
27	CHD1	chr19:18654665-18655129	GM12878	blood:	n/a	n/a
28	CHD2	chr19:18653579-18653616	GM12878	blood:	n/a	n/a
29	CHD2	chr19:18654203-18655183	GM12878	blood:	n/a	n/a
30	CHD2	chr19:18654303-18654534	HepG2	liver:	n/a	n/a
31	CHD2	chr19:18654243-18655137	K562	blood:	n/a	n/a
32	CHD2	chr19:18654222-18655118	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr19:18654261-18655073	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr19:18653887-18653997	GM12878	blood:	n/a	n/a
35	CREB1	chr19:18654732-18655071	A549	lung:	n/a	n/a
36	CREB1	chr19:18654174-18655309	K562	blood:	n/a	n/a
37	CREB1	chr19:18654184-18654531	A549	lung:	n/a	n/a
38	CREB1	chr19:18653722-18655186	GM12878	blood:	n/a	n/a
39	CTCF	chr19:18654840-18654990	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr19:18653920-18654070	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr19:18654921-18655069	HepG2	liver:	n/a	n/a
42	CTCF	chr19:18654873-18655084	MCF-7	breast:	n/a	n/a
43	CTCF	chr19:18654860-18655010	GM12869	blood:	n/a	n/a
44	CTCF	chr19:18654920-18655070	HBMEC	blood vessel:	n/a	n/a
45	CTCF	chr19:18654920-18655070	K562	blood:	n/a	n/a
46	CTCF	chr19:18654920-18655070	GM12871	blood:	n/a	n/a
47	CTCF	chr19:18654860-18655010	HVMF	connective:	n/a	n/a
48	CTCF	chr19:18654860-18655010	AG09319	gingival:	n/a	n/a
49	CTCF	chr19:18654904-18655055	MCF-7	breast:	n/a	n/a
50	CTCF	chr19:18654800-18654950	HEEpiC	esophagus:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18654267-18654317	HUVEC	blood vessel:	n/a
2	chr19:18654433-18654483	RPTEC	kidney:	n/a
3	chr19:18654267-18654317	SK-N-SH_RA	brain:	n/a
4	chr19:18654433-18654483	NHBE	bronchial:	n/a
5	chr19:18654681-18654731	PrEC	prostate:	n/a
6	chr19:18654361-18654411	HCM	heart:	n/a
7	chr19:18654433-18654483	ECC-1	luminal epithelium:	n/a
8	chr19:18654548-18654598	HCT-116	colon:	n/a
9	chr19:18652534-18652584	GM12891	blood:	n/a
10	chr19:18654361-18654411	SAEC	small airway:	n/a
11	chr19:18653918-18653968	Hela-S3	cervix:	n/a
12	chr19:18654681-18654731	NT2-D1	testis:	n/a
13	chr19:18654267-18654317	GM12878	blood:	n/a
14	chr19:18653918-18653968	GM06990	blood:	n/a
15	chr19:18654681-18654731	Hela-S3	cervix:	n/a
16	chr19:18654681-18654731	U87	brain:	n/a
17	chr19:18654361-18654411	GM12891	blood:	n/a
18	chr19:18654267-18654317	ECC-1	luminal epithelium:	n/a
19	chr19:18654681-18654731	AG04450	lung:	fetal
20	chr19:18654949-18654999	SKMC	muscle:	n/a
21	chr19:18654681-18654731	HepG2	liver:	n/a
22	chr19:18654361-18654411	BJ	skin:	n/a
23	chr19:18654267-18654317	T-47D	breast:	n/a
24	chr19:18654949-18654999	GM19239	blood:	n/a
25	chr19:18654361-18654411	HRCEpiC	kidney:	n/a
26	chr19:18654433-18654483	NHDF-neo	bronchial:	n/a
27	chr19:18653918-18653968	HRPEpiC	eye:	n/a
28	chr19:18652534-18652584	HUVEC	blood vessel:	n/a
29	chr19:18652534-18652584	Hela-S3	cervix:	n/a
30	chr19:18654433-18654483	U87	brain:	n/a
31	chr19:18654949-18654999	A549	lung:	n/a
32	chr19:18654548-18654598	BE2_C	brain:	n/a
33	chr19:18654681-18654731	BE2_C	brain:	n/a
34	chr19:18653918-18653968	HEK293	kidney:	embryo
35	chr19:18654267-18654317	HPAEpiC	pulmonary alveolar:	n/a
36	chr19:18654267-18654317	PANC-1	pancreas:	n/a
37	chr19:18652534-18652584	K562	blood:	n/a
38	chr19:18652534-18652584	NHBE	bronchial:	n/a
39	chr19:18654548-18654598	NHBE	bronchial:	n/a
40	chr19:18654267-18654317	AG04449	skin:	fetal
41	chr19:18654949-18654999	GM12891	blood:	n/a
42	chr19:18654949-18654999	HCT-116	colon:	n/a
43	chr19:18654361-18654411	H1-hESC	embryonic stem cell:	embryo
44	chr19:18653918-18653968	ProgFib	skin:	n/a
45	chr19:18654433-18654483	AG09309	skin:	n/a
46	chr19:18654949-18654999	HCF	heart:	n/a
47	chr19:18654433-18654483	PANC-1	pancreas:	n/a
48	chr19:18652534-18652584	AG09319	gingival:	n/a
49	chr19:18653918-18653968	HepG2	liver:	n/a
50	chr19:18654949-18654999	AG10803	skin:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18653476..18656385-chr19:18700159..18703130,5	K562	blood:
2	chr19:18629917..18634196-chr19:18652150..18655589,5	MCF-7	breast:
3	chr19:18653886..18656782-chr19:18668675..18670368,2	MCF-7	breast:
4	chr19:18633341..18635579-chr19:18650519..18652255,2	K562	blood:
5	chr19:18536175..18537815-chr19:18653605..18655763,2	MCF-7	breast:
6	chr19:18651038..18656783-chr19:18680897..18685521,14	K562	blood:
7	chr19:18650801..18653024-chr19:18671456..18674102,2	K562	blood:
8	chr19:18630875..18635401-chr19:18651200..18655863,9	MCF-7	breast:
9	chr19:18652388..18655450-chr19:18667016..18670630,4	K562	blood:
10	chr19:18653459..18656385-chr19:18699225..18703130,9	K562	blood:
11	chr19:18653470..18656783-chr19:18680897..18684291,6	K562	blood:
12	chr19:18649378..18653671-chr19:18667425..18670328,5	MCF-7	breast:
13	chr19:18653590..18656982-chr19:18704077..18706738,3	K562	blood:
14	chr19:18629959..18634840-chr19:18652830..18656407,13	K562	blood:
15	chr19:18648889..18650815-chr19:18652717..18655388,4	K562	blood:
16	chr19:18629748..18634724-chr19:18652806..18658264,15	K562	blood:
17	chr19:18653032..18656930-chr19:18667045..18670995,8	MCF-7	breast:
18	chr19:18652388..18654838-chr19:18668474..18670630,2	K562	blood:
19	chr19:18651498..18655648-chr19:18680777..18683781,5	MCF-7	breast:
20	chr19:18646844..18649576-chr19:18650784..18652699,2	MCF-7	breast:
21	chr19:18640357..18642464-chr19:18650908..18653787,2	MCF-7	breast:
22	chr19:18642522..18644970-chr19:18651017..18653848,4	K562	blood:
23	chr19:18651018..18652538-chr19:18681484..18683869,2	K562	blood:

No data

Variant related genes	Relation type
FKBP8	TF binding region
FKBP8	CpG island
ENSG00000269191	chromatin interactions
ENSG00000006016	chromatin interactions
ENSG00000105700	chromatin interactions
ENSG00000105701	chromatin interactions
ENSG00000268938	chromatin interactions
ENSG00000006015	chromatin interactions
ENSG00000105656	chromatin interactions
ENSG00000221983	chromatin interactions
ENSG00000130511	chromatin interactions
ENSG00000268030	chromatin interactions

Extended variants
information (count: 141 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546069416	chr19:18652289-18652290	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs559346964	chr19:18652307-18652308	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs528399030	chr19:18652309-18652310	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs190061425	chr19:18652323-18652324	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs561285464	chr19:18652338-18652339	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs530204097	chr19:18652340-18652341	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs550050727	chr19:18652342-18652343	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs73529545	chr19:18652431-18652432	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs532554625	chr19:18652440-18652441	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs372986668	chr19:18652443-18652444	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs552738926	chr19:18652518-18652519	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs11574806	chr19:18652521-18652522	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs535000575	chr19:18652527-18652528	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs374983500	chr19:18652528-18652529	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs11574805	chr19:18652529-18652530	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs368085900	chr19:18652543-18652544	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs35339541	chr19:18652551-18652552	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs11541423	chr19:18652559-18652560	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs371852654	chr19:18652561-18652562	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs11541421	chr19:18652568-18652569	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs376820813	chr19:18652571-18652572	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs61742106	chr19:18652580-18652581	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs368959673	chr19:18652592-18652593	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs537148195	chr19:18652596-18652597	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs570376536	chr19:18652598-18652599	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs181309307	chr19:18652619-18652620	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs11541427	chr19:18652625-18652626	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs140276721	chr19:18652637-18652638	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs185670325	chr19:18652661-18652662	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs371561631	chr19:18652673-18652674	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs573142562	chr19:18652682-18652683	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs539205072	chr19:18652706-18652707	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs142246175	chr19:18652712-18652713	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs375921391	chr19:18652717-18652718	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs373061427	chr19:18652718-18652719	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs376029668	chr19:18652722-18652723	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs371498399	chr19:18652732-18652733	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs372625663	chr19:18652733-18652734	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs11541428	chr19:18652735-18652736	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs201298401	chr19:18652754-18652755	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs543806511	chr19:18652773-18652774	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs563584235	chr19:18652809-18652810	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs368293221	chr19:18652815-18652816	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs532658624	chr19:18652819-18652820	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs10854166	chr19:18652844-18652845	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	mRNA abundance
46	rs190035707	chr19:18652885-18652886	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs528737936	chr19:18652920-18652921	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs532395591	chr19:18652951-18652952	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs548517905	chr19:18652962-18652963	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs567709302	chr19:18653014-18653015	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:712 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18632800-18652800	Weak transcription	Stomach Mucosa	stomach
2	chr19:18632800-18654600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:18633000-18653400	Weak transcription	Psoas Muscle	Psoas
4	chr19:18633200-18653200	Weak transcription	Right Atrium	heart
5	chr19:18633800-18652400	Weak transcription	Fetal Brain Male	brain
6	chr19:18633800-18652800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:18633800-18653400	Weak transcription	Fetal Kidney	kidney
8	chr19:18641800-18652400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr19:18641800-18652800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr19:18641800-18653000	Strong transcription	Fetal Stomach	stomach
11	chr19:18642000-18652400	Strong transcription	Fetal Muscle Leg	muscle
12	chr19:18642000-18652600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:18642000-18652600	Strong transcription	Brain Hippocampus Middle	brain
14	chr19:18642000-18652800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr19:18642000-18652800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr19:18642000-18652800	Strong transcription	Fetal Intestine Small	intestine
17	chr19:18642200-18652400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr19:18642200-18652400	Strong transcription	Gastric	stomach
19	chr19:18642200-18652400	Strong transcription	Thymus	Thymus
20	chr19:18642200-18652400	Strong transcription	NHLF	lung
21	chr19:18642200-18652600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr19:18642200-18652600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:18642200-18652600	Strong transcription	Primary T cells from cord blood	blood
24	chr19:18642200-18652600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:18642200-18652600	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr19:18642200-18652600	Strong transcription	Esophagus	oesophagus
27	chr19:18642200-18652600	Strong transcription	Fetal Intestine Large	intestine
28	chr19:18642200-18652600	Strong transcription	Ovary	ovary
29	chr19:18642200-18652800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr19:18642200-18652800	Strong transcription	Fetal Thymus	thymus
31	chr19:18642200-18653000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr19:18644200-18652800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr19:18645000-18652400	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr19:18645000-18652400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr19:18645000-18652400	Strong transcription	Brain Cingulate Gyrus	brain
36	chr19:18645000-18652400	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr19:18645000-18652600	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr19:18645000-18652600	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr19:18645000-18652600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr19:18645200-18652400	Strong transcription	Fetal Lung	lung
41	chr19:18645200-18652600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:18645200-18652600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr19:18645200-18652600	Strong transcription	Brain Germinal Matrix	brain
44	chr19:18645200-18652600	Strong transcription	Lung	lung
45	chr19:18645200-18652800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr19:18646000-18652400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr19:18646000-18652400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:18646000-18652400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:18646000-18652600	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr19:18646000-18652600	Strong transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links