Variant report

Variant	esv2763205
Chromosome Location	chr19:42258547-42290598
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:431)
CpG islands
(count:366)
Chromatin interactive
region (count:57)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:431 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr19:42289538-42289842	K562	blood:	n/a	n/a
2	BHLHE40	chr19:42289534-42289734	GM12878	blood:	n/a	n/a
3	BRCA1	chr19:42289611-42289713	GM12878	blood:	n/a	n/a
4	CBX3	chr19:42278204-42278885	HCT-116	colon:	n/a	n/a
5	CEBPB	chr19:42278289-42278831	MCF-7	breast:	n/a	n/a
6	CEBPB	chr19:42278147-42278921	HCT-116	colon:	n/a	n/a
7	CEBPB	chr19:42258406-42258941	MCF-7	breast:	n/a	n/a
8	CEBPB	chr19:42278385-42278849	MCF-7	breast:	n/a	n/a
9	CEBPB	chr19:42258453-42258801	MCF-7	breast:	n/a	n/a
10	CHD2	chr19:42289690-42289776	GM12878	blood:	n/a	n/a
11	CTCF	chr19:42289556-42289798	GM13976	blood:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
12	CTCF	chr19:42289500-42289650	RPTEC	kidney:	n/a	n/a
13	CTCF	chr19:42289600-42289750	HAc	cerebellar:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
14	CTCF	chr19:42289640-42289790	K562	blood:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
15	CTCF	chr19:42289545-42289805	MCF-7	breast:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
16	CTCF	chr19:42289600-42289750	AG04450	lung:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
17	CTCF	chr19:42289580-42289730	HCT-116	colon:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
18	CTCF	chr19:42289500-42289650	HVMF	connective:	n/a	n/a
19	CTCF	chr19:42258540-42258690	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr19:42289555-42289787	LNCaP	prostate:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
21	CTCF	chr19:42289600-42289750	Caco-2	colon:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
22	CTCF	chr19:42289580-42289730	GM12864	blood:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
23	CTCF	chr19:42289220-42289370	GM12864	blood:	n/a	n/a
24	CTCF	chr19:42289538-42289817	Lung_OC	lung:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
25	CTCF	chr19:42289560-42289710	HEK293	kidney:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
26	CTCF	chr19:42289444-42289832	HepG2	liver:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
27	CTCF	chr19:42289580-42289730	HMF	breast:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
28	CTCF	chr19:42289580-42289730	GM06990	blood:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
29	CTCF	chr19:42289620-42289770	HPF	lung:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
30	CTCF	chr19:42289620-42289770	Caco-2	colon:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
31	CTCF	chr19:42289580-42289730	BJ	skin:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
32	CTCF	chr19:42289600-42289750	GM12868	blood:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
33	CTCF	chr19:42289580-42289730	HPF	lung:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
34	CTCF	chr19:42289180-42289330	HEK293	kidney:	n/a	n/a
35	CTCF	chr19:42258620-42258770	HEK293	kidney:	n/a	n/a
36	CTCF	chr19:42289600-42289750	SK-N-SH_RA	brain:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
37	CTCF	chr19:42289560-42289710	AG10803	skin:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
38	CTCF	chr19:42289640-42289790	HFF	foreskin:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
39	CTCF	chr19:42289580-42289730	HBMEC	blood vessel:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
40	CTCF	chr19:42289525-42289789	HepG2	liver:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
41	CTCF	chr19:42289560-42289710	GM12865	blood:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
42	CTCF	chr19:42289560-42289710	GM12874	blood:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
43	CTCF	chr19:42289580-42289730	AG04450	lung:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
44	CTCF	chr19:42289513-42289782	ECC-1	luminal epithelium:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
45	CTCF	chr19:42289120-42289270	GM12871	blood:	n/a	n/a
46	CTCF	chr19:42289489-42289752	A549	lung:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
47	CTCF	chr19:42289479-42289756	SK-N-SH_RA	brain:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
48	CTCF	chr19:42289620-42289770	GM12875	blood:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
49	CTCF	chr19:42289580-42289730	NHDF-neo	bronchial:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
50	CTCF	chr19:42289840-42289990	AG09309	skin:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42259395-42259445	HRPEpiC	eye:	n/a
2	chr19:42259081-42259131	LNCaP	prostate:	n/a
3	chr19:42275193-42275243	HRE	kidney:	n/a
4	chr19:42259395-42259445	NT2-D1	testis:	n/a
5	chr19:42260485-42260535	AG10803	skin:	n/a
6	chr19:42259395-42259445	NHDF-neo	bronchial:	n/a
7	chr19:42259235-42259285	PANC-1	pancreas:	n/a
8	chr19:42260485-42260535	GM06990	blood:	n/a
9	chr19:42275193-42275243	BE2_C	brain:	n/a
10	chr19:42260485-42260535	ECC-1	luminal epithelium:	n/a
11	chr19:42259081-42259131	RPTEC	kidney:	n/a
12	chr19:42274924-42274974	BJ	skin:	n/a
13	chr19:42259081-42259131	GM12878	blood:	n/a
14	chr19:42259235-42259285	Hela-S3	cervix:	n/a
15	chr19:42259395-42259445	SK-N-MC	brain:	n/a
16	chr19:42259235-42259285	HCM	heart:	n/a
17	chr19:42260485-42260535	HCPEpiC	choroid plexus:	n/a
18	chr19:42274924-42274974	SK-N-MC	brain:	n/a
19	chr19:42260485-42260535	BE2_C	brain:	n/a
20	chr19:42275193-42275243	HRPEpiC	eye:	n/a
21	chr19:42275193-42275243	HPAEpiC	pulmonary alveolar:	n/a
22	chr19:42274924-42274974	Hela-S3	cervix:	n/a
23	chr19:42259395-42259445	Hela-S3	cervix:	n/a
24	chr19:42274924-42274974	NB4	blood:	n/a
25	chr19:42259235-42259285	GM12891	blood:	n/a
26	chr19:42274924-42274974	H1-hESC	embryonic stem cell:	embryo
27	chr19:42260485-42260535	MCF-7	breast:	n/a
28	chr19:42259395-42259445	ECC-1	luminal epithelium:	n/a
29	chr19:42275193-42275243	AG04450	lung:	fetal
30	chr19:42259081-42259131	NT2-D1	testis:	n/a
31	chr19:42275193-42275243	Jurkat	blood:	n/a
32	chr19:42259395-42259445	SK-N-SH_RA	brain:	n/a
33	chr19:42259395-42259445	HCPEpiC	choroid plexus:	n/a
34	chr19:42259081-42259131	H1-hESC	embryonic stem cell:	embryo
35	chr19:42259235-42259285	BE2_C	brain:	n/a
36	chr19:42260485-42260535	SKMC	muscle:	n/a
37	chr19:42259395-42259445	MCF10A-Er-Src	breast:	n/a
38	chr19:42260485-42260535	A549	lung:	n/a
39	chr19:42274924-42274974	AoSMC	blood vessel:	n/a
40	chr19:42275193-42275243	HNPCEpiC	eye:	n/a
41	chr19:42260485-42260535	H1-hESC	embryonic stem cell:	embryo
42	chr19:42259395-42259445	T-47D	breast:	n/a
43	chr19:42259395-42259445	NHBE	bronchial:	n/a
44	chr19:42259081-42259131	ECC-1	luminal epithelium:	n/a
45	chr19:42275193-42275243	ECC-1	luminal epithelium:	n/a
46	chr19:42274924-42274974	GM12892	blood:	n/a
47	chr19:42275193-42275243	PrEC	prostate:	n/a
48	chr19:42259395-42259445	HIPEpiC	eye:	n/a
49	chr19:42259235-42259285	SK-N-SH	brain:	n/a
50	chr19:42274924-42274974	T-47D	breast:	n/a

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:42270435..42273069-chr19:42278370..42280159,2	MCF-7	breast:
2	chr19:42259394..42260982-chr19:42261477..42263046,2	MCF-7	breast:
3	chr19:42255651..42257648-chr19:42288124..42290756,2	MCF-7	breast:
4	chr19:42277316..42282861-chr19:42295271..42298784,10	MCF-7	breast:
5	chr19:42278432..42280724-chr19:42363610..42365234,2	MCF-7	breast:
6	chr19:42271676..42273430-chr19:42276461..42278418,2	MCF-7	breast:
7	chr19:42210590..42211349-chr19:42289402..42290179,3	MCF-7	breast:
8	chr19:42281683..42284072-chr19:42363148..42365714,2	MCF-7	breast:
9	chr19:42280334..42281890-chr19:42288112..42290516,2	MCF-7	breast:
10	chr19:42256872..42257731-chr19:42277925..42278830,2	MCF-7	breast:
11	chr19:42256392..42258478-chr19:42289082..42290564,19	MCF-7	breast:
12	chr19:42283769..42285761-chr19:42286969..42288964,2	MCF-7	breast:
13	chr19:42253200..42254991-chr19:42287539..42289133,2	MCF-7	breast:
14	chr19:42259424..42262726-chr19:42264710..42268289,4	K562	blood:
15	chr19:42254797..42261680-chr19:42284783..42292674,12	MCF-7	breast:
16	chr19:42238387..42240007-chr19:42287933..42289826,2	MCF-7	breast:
17	chr19:42280334..42281890-chr19:42288112..42290516,2	MCF-7	breast:
18	chr19:42250343..42251080-chr19:42288592..42289100,2	MCF-7	breast:
19	chr19:42264279..42265864-chr19:42267759..42270746,2	MCF-7	breast:
20	chr19:42257939..42260578-chr19:42260800..42262480,2	K562	blood:
21	chr19:42254797..42261680-chr19:42284783..42292674,12	MCF-7	breast:
22	chr19:42270435..42273069-chr19:42278370..42280159,2	MCF-7	breast:
23	chr19:42258418..42261395-chr19:42263333..42266210,2	K562	blood:
24	chr19:42261241..42262900-chr19:42275127..42276730,2	MCF-7	breast:
25	chr19:42278812..42280999-chr4:184365517..184367399,2	MCF-7	breast:
26	chr19:42250749..42252304-chr19:42286973..42289582,3	MCF-7	breast:
27	chr19:42271676..42273430-chr19:42276461..42278418,2	MCF-7	breast:
28	chr19:42259394..42260982-chr19:42261477..42263046,2	MCF-7	breast:
29	chr19:42146223..42148129-chr19:42277106..42278816,2	MCF-7	breast:
30	chr19:42274897..42278651-chr19:42287593..42289573,3	MCF-7	breast:
31	chr19:42274897..42278651-chr19:42287593..42289573,3	MCF-7	breast:
32	chr19:42283769..42285761-chr19:42286969..42288964,2	MCF-7	breast:
33	chr19:42262778..42266389-chr19:42276917..42279036,3	MCF-7	breast:
34	chr19:42257481..42258252-chr19:42289232..42289768,2	MCF-7	breast:
35	chr19:42250551..42264892-chr19:42273965..42282481,23	MCF-7	breast:
36	chr19:42258231..42260656-chr19:42288307..42290436,3	MCF-7	breast:
37	chr19:42262778..42266389-chr19:42276917..42279036,3	MCF-7	breast:
38	chr19:42214835..42216861-chr19:42256777..42258757,2	MCF-7	breast:
39	chr19:42210279..42211646-chr19:42289123..42290139,7	MCF-7	breast:
40	chr19:42278941..42284055-chr19:42287718..42293319,7	MCF-7	breast:
41	chr19:42256268..42257789-chr19:42259874..42261531,2	MCF-7	breast:
42	chr19:42258691..42261541-chr19:42266017..42268400,4	MCF-7	breast:
43	chr19:42265754..42267325-chr19:42289223..42291890,2	K562	blood:
44	chr19:42211076..42212814-chr19:42288522..42291440,2	MCF-7	breast:
45	chr19:42208175..42212316-chr19:42277076..42281781,5	MCF-7	breast:
46	chr19:42278093..42278816-chr19:42296664..42297371,2	MCF-7	breast:
47	chr19:42284065..42287581-chr19:42289073..42291292,3	MCF-7	breast:
48	chr19:42286292..42289272-chr19:42318384..42321210,2	K562	blood:
49	chr19:42210694..42211257-chr19:42289585..42290133,2	K562	blood:
50	chr19:42267949..42271165-chr19:42271348..42273565,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LYPD4-3	chr19:42261806-42261989	ENSG00000268833.1
2	lnc-LYPD4-3	chr19:42290419-42290801	ENSG00000268833.1

No data

Variant related genes	Relation type
CEACAM6	TF binding region
CEACAM6	CpG island
ENSG00000269354	chromatin interactions
ENSG00000168564	chromatin interactions
ENSG00000267881	chromatin interactions
ENSG00000105388	chromatin interactions
ENSG00000268833	chromatin interactions
ENSG00000086548	chromatin interactions
ENSG00000105372	chromatin interactions
ENSG00000007306	chromatin interactions

Extended variants
information (count: 1292 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1292 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3764579	chr19:42258547-42258548	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs368559825	chr19:42258562-42258563	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552580706	chr19:42258587-42258588	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs140683909	chr19:42258613-42258614	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs145905807	chr19:42258619-42258620	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs561270910	chr19:42258662-42258663	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs191951050	chr19:42258701-42258702	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs375616860	chr19:42258710-42258711	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs549823694	chr19:42258841-42258842	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs571393052	chr19:42258864-42258865	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs12973096	chr19:42258914-42258915	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs547228856	chr19:42258917-42258918	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs138458002	chr19:42258919-42258920	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs142964224	chr19:42258950-42258951	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs554100472	chr19:42259004-42259005	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs575962193	chr19:42259023-42259024	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs10415946	chr19:42259059-42259060	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs556559710	chr19:42259081-42259082	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs117793196	chr19:42259082-42259083	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs578223831	chr19:42259084-42259085	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs10416668	chr19:42259136-42259137	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs560717324	chr19:42259150-42259151	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs572525119	chr19:42259197-42259198	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs543153702	chr19:42259223-42259224	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs3829668	chr19:42259228-42259229	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566380664	chr19:42259230-42259231	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs369078455	chr19:42259231-42259232	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs28372847	chr19:42259234-42259235	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs111976649	chr19:42259236-42259237	Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs550182700	chr19:42259311-42259312	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs565023392	chr19:42259321-42259322	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs532483473	chr19:42259358-42259359	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs547143039	chr19:42259431-42259432	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs375011788	chr19:42259444-42259445	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs184076382	chr19:42259544-42259545	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373803422	chr19:42259568-42259569	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs139021880	chr19:42259574-42259575	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs141906944	chr19:42259582-42259583	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs188386429	chr19:42259588-42259589	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs199578274	chr19:42259592-42259593	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs370563504	chr19:42259607-42259608	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs372058531	chr19:42259623-42259624	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs547901632	chr19:42259629-42259630	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs376647335	chr19:42259655-42259656	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs535508283	chr19:42259658-42259659	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs538677969	chr19:42259737-42259738	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs72480766	chr19:42259744-42259745	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs536628621	chr19:42259928-42259929	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192667906	chr19:42259950-42259951	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs571846384	chr19:42259961-42259962	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42254400-42260200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr19:42254800-42259200	Weak transcription	Fetal Intestine Small	intestine
3	chr19:42255200-42259000	Weak transcription	Colonic Mucosa	Colon
4	chr19:42255400-42259200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr19:42255800-42259000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr19:42257000-42259200	Weak transcription	Esophagus	oesophagus
7	chr19:42257600-42262600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:42258000-42262000	Weak transcription	Stomach Mucosa	stomach
9	chr19:42258000-42262400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:42258400-42259400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr19:42258800-42259800	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr19:42259000-42259400	Enhancers	Colonic Mucosa	Colon
13	chr19:42259000-42259400	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr19:42259000-42259600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr19:42259200-42259400	Weak transcription	Fetal Intestine Large	intestine
16	chr19:42259200-42259800	Enhancers	Primary B cells from cord blood	blood
17	chr19:42259200-42259800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr19:42259200-42260400	Enhancers	Fetal Intestine Small	intestine
19	chr19:42259200-42263000	Active TSS	Esophagus	oesophagus
20	chr19:42259400-42259600	Enhancers	Fetal Intestine Large	intestine
21	chr19:42259400-42259800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr19:42259400-42260000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr19:42259400-42262800	Active TSS	Colonic Mucosa	Colon
24	chr19:42259600-42261200	Weak transcription	Fetal Intestine Large	intestine
25	chr19:42259600-42262600	Active TSS	Lung	lung
26	chr19:42259800-42260000	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr19:42259800-42261800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr19:42260000-42260200	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr19:42260000-42260200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr19:42260200-42260400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr19:42260200-42260600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr19:42260200-42262400	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr19:42260400-42260800	Weak transcription	Fetal Intestine Small	intestine
34	chr19:42260400-42262800	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr19:42260600-42261000	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr19:42260800-42262600	Enhancers	Fetal Intestine Small	intestine
37	chr19:42261000-42262600	Enhancers	Duodenum Mucosa	Duodenum
38	chr19:42261000-42263000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr19:42261200-42262200	Enhancers	Fetal Intestine Large	intestine
40	chr19:42261800-42262400	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr19:42261800-42263200	Enhancers	Primary hematopoietic stem cells	blood
42	chr19:42262000-42262400	Enhancers	Stomach Mucosa	stomach
43	chr19:42262000-42266600	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr19:42262400-42262600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr19:42262400-42262600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr19:42262400-42262800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr19:42262400-42263600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr19:42262600-42262800	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr19:42262600-42263000	Flanking Active TSS	Lung	lung
50	chr19:42262600-42263400	Enhancers	Rectal Mucosa Donor 31	rectum

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