Variant report

Variant	esv3319045
Chromosome Location	chr19:42257039-42297123
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr19:42289538-42289842	K562	blood:	n/a	n/a
2	BACH1	chr19:42297094-42297292	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr19:42257990-42258186	GM12878	blood:	n/a	n/a
4	BHLHE40	chr19:42257236-42257273	A549	lung:	n/a	n/a
5	BHLHE40	chr19:42289534-42289734	GM12878	blood:	n/a	n/a
6	BRCA1	chr19:42289611-42289713	GM12878	blood:	n/a	n/a
7	CBX3	chr19:42278204-42278885	HCT-116	colon:	n/a	n/a
8	CEBPB	chr19:42290928-42291190	A549	lung:	n/a	n/a
9	CEBPB	chr19:42258453-42258801	MCF-7	breast:	n/a	n/a
10	CEBPB	chr19:42278147-42278921	HCT-116	colon:	n/a	n/a
11	CEBPB	chr19:42258406-42258941	MCF-7	breast:	n/a	n/a
12	CEBPB	chr19:42278385-42278849	MCF-7	breast:	n/a	n/a
13	CEBPB	chr19:42258033-42258079	K562	blood:	n/a	n/a
14	CEBPB	chr19:42278289-42278831	MCF-7	breast:	n/a	n/a
15	CEBPB	chr19:42258041-42258115	Hela-S3	cervix:	n/a	n/a
16	CHD2	chr19:42289690-42289776	GM12878	blood:	n/a	n/a
17	CREB1	chr19:42297061-42297366	A549	lung:	n/a	n/a
18	CREB1	chr19:42297090-42297364	H1-hESC	embryonic stem cell:	n/a	n/a
19	CREB1	chr19:42297087-42297463	A549	lung:	n/a	n/a
20	CTCF	chr19:42257980-42258130	HepG2	liver:	n/a	n/a
21	CTCF	chr19:42289540-42289690	GM12869	blood:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
22	CTCF	chr19:42289360-42289510	HVMF	connective:	n/a	n/a
23	CTCF	chr19:42258304-42258409	GM19240	blood:	n/a	n/a
24	CTCF	chr19:42289600-42289750	GM12874	blood:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
25	CTCF	chr19:42289580-42289730	HCT-116	colon:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
26	CTCF	chr19:42289560-42289710	GM12873	blood:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
27	CTCF	chr19:42257940-42258090	HA-sp	spinal cord:	n/a	n/a
28	CTCF	chr19:42257836-42258249	A549	lung:	n/a	n/a
29	CTCF	chr19:42257220-42257370	WI-38	lung:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
30	CTCF	chr19:42257161-42257399	ProgFib	skin:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
31	CTCF	chr19:42296855-42297009	GM12892	blood:	n/a	n/a
32	CTCF	chr19:42257940-42258090	MCF-7	breast:	n/a	n/a
33	CTCF	chr19:42257180-42257385	Kidney_OC	kidney:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
34	CTCF	chr19:42289580-42289730	AG09319	gingival:	n/a	chr19:42289658-42289676 chr19:42289653-42289674
35	CTCF	chr19:42297117-42297341	GM10248	blood:	n/a	chr19:42297220-42297233 chr19:42297220-42297233 chr19:42297217-42297235 chr19:42297217-42297230 chr19:42297218-42297234
36	CTCF	chr19:42257140-42257290	HCT-116	colon:	n/a	chr19:42257279-42257288
37	CTCF	chr19:42257140-42257290	HFF	foreskin:	n/a	chr19:42257279-42257288
38	CTCF	chr19:42257126-42257371	LNCaP	prostate:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
39	CTCF	chr19:42257877-42258147	HepG2	liver:	n/a	n/a
40	CTCF	chr19:42257980-42258130	GM12801	blood:	n/a	n/a
41	CTCF	chr19:42297100-42297250	GM12872	blood:	n/a	chr19:42297220-42297233 chr19:42297220-42297233 chr19:42297217-42297235 chr19:42297217-42297230 chr19:42297218-42297234
42	CTCF	chr19:42257220-42257370	HRE	kidney:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
43	CTCF	chr19:42257220-42257370	MCF-7	breast:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
44	CTCF	chr19:42257174-42257382	LNCaP	prostate:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
45	CTCF	chr19:42297079-42297345	HepG2	liver:	n/a	chr19:42297220-42297233 chr19:42297220-42297233 chr19:42297217-42297235 chr19:42297217-42297230 chr19:42297218-42297234
46	CTCF	chr19:42296660-42296810	GM12867	blood:	n/a	n/a
47	CTCF	chr19:42297110-42297360	NHEK	skin:	n/a	chr19:42297220-42297233 chr19:42297220-42297233 chr19:42297217-42297235 chr19:42297217-42297230 chr19:42297218-42297234
48	CTCF	chr19:42257875-42258163	GM19238	blood:	n/a	n/a
49	CTCF	chr19:42297100-42297250	HFF-Myc	foreskin:	n/a	chr19:42297220-42297233 chr19:42297220-42297233 chr19:42297217-42297235 chr19:42297217-42297230 chr19:42297218-42297234
50	CTCF	chr19:42257920-42258070	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42259395-42259445	SK-N-SH_RA	brain:	n/a
2	chr19:42259395-42259445	SK-N-SH_RA	brain:	n/a
3	chr19:42258336-42258386	MCF-7	breast:	n/a
4	chr19:42259395-42259445	HepG2	liver:	n/a
5	chr19:42275193-42275243	HL-60	blood:	n/a
6	chr19:42259235-42259285	NHDF-neo	bronchial:	n/a
7	chr19:42259081-42259131	IMR90	lung:	fetal
8	chr19:42275193-42275243	NHBE	bronchial:	n/a
9	chr19:42259235-42259285	BJ	skin:	n/a
10	chr19:42259081-42259131	NHDF-neo	bronchial:	n/a
11	chr19:42258336-42258386	PANC-1	pancreas:	n/a
12	chr19:42274924-42274974	HEEpiC	esophagus:	n/a
13	chr19:42275193-42275243	HUVEC	blood vessel:	n/a
14	chr19:42274924-42274974	HCF	heart:	n/a
15	chr19:42275193-42275243	ECC-1	luminal epithelium:	n/a
16	chr19:42259081-42259131	H1-hESC	embryonic stem cell:	embryo
17	chr19:42259235-42259285	A549	lung:	n/a
18	chr19:42259235-42259285	PANC-1	pancreas:	n/a
19	chr19:42259395-42259445	HRCEpiC	kidney:	n/a
20	chr19:42274924-42274974	ECC-1	luminal epithelium:	n/a
21	chr19:42274924-42274974	HIPEpiC	eye:	n/a
22	chr19:42260485-42260535	SAEC	small airway:	n/a
23	chr19:42260485-42260535	K562	blood:	n/a
24	chr19:42258336-42258386	IMR90	lung:	fetal
25	chr19:42259395-42259445	U87	brain:	n/a
26	chr19:42259235-42259285	HMEC	breast:	n/a
27	chr19:42275193-42275243	SKMC	muscle:	n/a
28	chr19:42260485-42260535	Jurkat	blood:	n/a
29	chr19:42259081-42259131	GM12878	blood:	n/a
30	chr19:42259395-42259445	NHBE	bronchial:	n/a
31	chr19:42259081-42259131	HIPEpiC	eye:	n/a
32	chr19:42259395-42259445	HL-60	blood:	n/a
33	chr19:42260485-42260535	AG10803	skin:	n/a
34	chr19:42275193-42275243	HRPEpiC	eye:	n/a
35	chr19:42259395-42259445	PFSK-1	brain:	n/a
36	chr19:42259081-42259131	HPAEpiC	pulmonary alveolar:	n/a
37	chr19:42259395-42259445	GM12891	blood:	n/a
38	chr19:42259081-42259131	HAEpiC	amniotic membrane:	n/a
39	chr19:42275193-42275243	HCM	heart:	n/a
40	chr19:42259235-42259285	MCF10A-Er-Src	breast:	n/a
41	chr19:42275193-42275243	GM12892	blood:	n/a
42	chr19:42259395-42259445	HRE	kidney:	n/a
43	chr19:42275193-42275243	MCF10A-Er-Src	breast:	n/a
44	chr19:42259395-42259445	GM19239	blood:	n/a
45	chr19:42274924-42274974	IMR90	lung:	fetal
46	chr19:42260485-42260535	HCM	heart:	n/a
47	chr19:42275193-42275243	Jurkat	blood:	n/a
48	chr19:42259235-42259285	PFSK-1	brain:	n/a
49	chr19:42275193-42275243	ovcar-3	ovarian:	n/a
50	chr19:42258336-42258386	HUVEC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:42254797..42261680-chr19:42284783..42292674,12	MCF-7	breast:
2	chr19:42265754..42267325-chr19:42289223..42291890,2	K562	blood:
3	chr19:42256322..42257851-chr19:42324890..42325806,7	K562	blood:
4	chr19:42296779..42297392-chr19:42455516..42456030,2	K562	blood:
5	chr19:42255651..42257648-chr19:42288124..42290756,2	MCF-7	breast:
6	chr19:42280334..42281890-chr19:42288112..42290516,2	MCF-7	breast:
7	chr19:42210694..42211257-chr19:42289585..42290133,2	K562	blood:
8	chr19:42294562..42295498-chr19:42324919..42325811,2	K562	blood:
9	chr19:42258418..42261395-chr19:42263333..42266210,2	K562	blood:
10	chr19:42278093..42278816-chr19:42296664..42297371,2	MCF-7	breast:
11	chr19:42211076..42212814-chr19:42288522..42291440,2	MCF-7	breast:
12	chr19:42250343..42251080-chr19:42288592..42289100,2	MCF-7	breast:
13	chr19:42256392..42258478-chr19:42289082..42290564,19	MCF-7	breast:
14	chr19:42296776..42297718-chr19:42324905..42325767,5	MCF-7	breast:
15	chr19:42262778..42266389-chr19:42276917..42279036,3	MCF-7	breast:
16	chr19:42296738..42297698-chr19:42324856..42325859,7	K562	blood:
17	chr19:42210590..42211349-chr19:42289402..42290179,3	MCF-7	breast:
18	chr19:42256878..42257460-chr19:42288323..42288994,2	MCF-7	breast:
19	chr19:42278812..42280999-chr4:184365517..184367399,2	MCF-7	breast:
20	chr19:42283769..42285761-chr19:42286969..42288964,2	MCF-7	breast:
21	chr19:42271676..42273430-chr19:42276461..42278418,2	MCF-7	breast:
22	chr19:42259424..42262726-chr19:42264710..42268289,4	K562	blood:
23	chr19:42256878..42257460-chr19:42288323..42288994,2	MCF-7	breast:
24	chr19:42270435..42273069-chr19:42278370..42280159,2	MCF-7	breast:
25	chr19:42278093..42278816-chr19:42296664..42297371,2	MCF-7	breast:
26	chr19:42283769..42285761-chr19:42286969..42288964,2	MCF-7	breast:
27	chr19:42296943..42297716-chr19:42461685..42462192,2	K562	blood:
28	chr19:42256268..42257789-chr19:42259874..42261531,2	MCF-7	breast:
29	chr19:42257481..42258252-chr19:42289232..42289768,2	MCF-7	breast:
30	chr19:42281683..42284072-chr19:42363148..42365714,2	MCF-7	breast:
31	chr19:42262778..42266389-chr19:42276917..42279036,3	MCF-7	breast:
32	chr19:42146223..42148129-chr19:42277106..42278816,2	MCF-7	breast:
33	chr19:42274897..42278651-chr19:42287593..42289573,3	MCF-7	breast:
34	chr19:42245444..42247373-chr19:42295187..42298077,2	MCF-7	breast:
35	chr19:42236787..42239038-chr19:42291310..42293242,2	MCF-7	breast:
36	chr19:42261241..42262900-chr19:42275127..42276730,2	MCF-7	breast:
37	chr19:42271676..42273430-chr19:42276461..42278418,2	MCF-7	breast:
38	chr19:42250551..42264892-chr19:42273965..42282481,23	MCF-7	breast:
39	chr19:42208175..42212316-chr19:42277076..42281781,5	MCF-7	breast:
40	chr19:42296886..42297641-chr19:42324359..42325844,5	MCF-7	breast:
41	chr19:42256268..42257789-chr19:42259874..42261531,2	MCF-7	breast:
42	chr19:42264279..42265864-chr19:42267759..42270746,2	MCF-7	breast:
43	chr19:42284065..42287581-chr19:42289073..42291292,3	MCF-7	breast:
44	chr19:42259394..42260982-chr19:42261477..42263046,2	MCF-7	breast:
45	chr19:42254797..42261680-chr19:42284783..42292674,12	MCF-7	breast:
46	chr19:42267949..42271165-chr19:42271348..42273565,4	MCF-7	breast:
47	chr19:42255651..42257648-chr19:42288124..42290756,2	MCF-7	breast:
48	chr19:42274897..42278651-chr19:42287593..42289573,3	MCF-7	breast:
49	chr19:42277316..42282861-chr19:42295271..42298784,10	MCF-7	breast:
50	chr19:42258691..42261541-chr19:42266017..42268400,4	MCF-7	breast:

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

Variant related genes	Relation type
CEACAM3	TF binding region
CEACAM6	TF binding region
ENSG00000268833	TF binding region
CEACAM3	CpG island
CEACAM6	CpG island
ENSG00000268833	CpG island
ENSG00000267881	chromatin interactions
ENSG00000105372	chromatin interactions
ENSG00000168564	chromatin interactions
ENSG00000007306	chromatin interactions
ENSG00000105388	chromatin interactions
ENSG00000086548	chromatin interactions
ENSG00000269354	chromatin interactions
ENSG00000268833	chromatin interactions

Extended variants
information (count: 1639 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1639 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534447868	chr19:42257058-42257059	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs552795770	chr19:42257083-42257084	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs59874646	chr19:42257100-42257101	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs374140313	chr19:42257144-42257145	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs11878239	chr19:42257156-42257157	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs185561868	chr19:42257199-42257200	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs570724927	chr19:42257229-42257230	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs550928341	chr19:42257247-42257248	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs72480765	chr19:42257273-42257274	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs533310000	chr19:42257286-42257287	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs538372696	chr19:42257288-42257289	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs566879462	chr19:42257309-42257310	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs534043841	chr19:42257331-42257332	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs555724064	chr19:42257356-42257357	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs567595861	chr19:42257381-42257382	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs538031888	chr19:42257384-42257385	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs556362657	chr19:42257388-42257389	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs549922121	chr19:42257402-42257403	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs111670279	chr19:42257403-42257404	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs575145359	chr19:42257442-42257443	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs113626047	chr19:42257452-42257453	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs11404076	chr19:42257458-42257459	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs11296330	chr19:42257459-42257460	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs79094993	chr19:42257472-42257473	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs190864911	chr19:42257477-42257478	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs553690222	chr19:42257537-42257538	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs571725168	chr19:42257561-42257562	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs542242560	chr19:42257570-42257571	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs569659074	chr19:42257585-42257586	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs4802130	chr19:42257587-42257588	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs544785903	chr19:42257601-42257602	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs374170056	chr19:42257640-42257641	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs562234841	chr19:42257653-42257654	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs182958482	chr19:42257655-42257656	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs9749010	chr19:42257683-42257684	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs143492626	chr19:42257728-42257729	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs566846488	chr19:42257740-42257741	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs527666216	chr19:42257754-42257755	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs572801904	chr19:42257865-42257866	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs540126918	chr19:42257866-42257867	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs549435573	chr19:42257873-42257874	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs564910811	chr19:42257889-42257890	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs567559567	chr19:42257903-42257904	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs377040248	chr19:42257952-42257953	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs576746790	chr19:42257975-42257976	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs537797995	chr19:42257994-42257995	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs556277980	chr19:42257999-42258000	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs571363889	chr19:42258003-42258004	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs544322226	chr19:42258051-42258052	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs372960323	chr19:42258052-42258053	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 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:353 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42254400-42260200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr19:42254600-42258000	Enhancers	Stomach Mucosa	stomach
3	chr19:42254800-42259200	Weak transcription	Fetal Intestine Small	intestine
4	chr19:42255200-42259000	Weak transcription	Colonic Mucosa	Colon
5	chr19:42255400-42257600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:42255400-42259200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr19:42255800-42259000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr19:42256400-42258400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr19:42256600-42257200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr19:42256800-42257800	Weak transcription	Pancreas	Pancrea
11	chr19:42257000-42258200	Weak transcription	Colon Smooth Muscle	Colon
12	chr19:42257000-42259200	Weak transcription	Esophagus	oesophagus
13	chr19:42257200-42257600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:42257200-42258000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr19:42257200-42258000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr19:42257400-42258000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr19:42257600-42258000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr19:42257600-42258000	Enhancers	Primary B cells from peripheral blood	blood
19	chr19:42257600-42258000	Enhancers	Duodenum Mucosa	Duodenum
20	chr19:42257600-42262600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:42257800-42258000	Enhancers	Pancreas	Pancrea
22	chr19:42258000-42262000	Weak transcription	Stomach Mucosa	stomach
23	chr19:42258000-42262400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:42258200-42258400	Enhancers	Colon Smooth Muscle	Colon
25	chr19:42258400-42259400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr19:42258800-42259800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr19:42259000-42259400	Enhancers	Colonic Mucosa	Colon
28	chr19:42259000-42259400	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr19:42259000-42259600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr19:42259200-42259400	Weak transcription	Fetal Intestine Large	intestine
31	chr19:42259200-42259800	Enhancers	Primary B cells from cord blood	blood
32	chr19:42259200-42259800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr19:42259200-42260400	Enhancers	Fetal Intestine Small	intestine
34	chr19:42259200-42263000	Active TSS	Esophagus	oesophagus
35	chr19:42259400-42259600	Enhancers	Fetal Intestine Large	intestine
36	chr19:42259400-42259800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr19:42259400-42260000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr19:42259400-42262800	Active TSS	Colonic Mucosa	Colon
39	chr19:42259600-42261200	Weak transcription	Fetal Intestine Large	intestine
40	chr19:42259600-42262600	Active TSS	Lung	lung
41	chr19:42259800-42260000	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr19:42259800-42261800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr19:42260000-42260200	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr19:42260000-42260200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr19:42260200-42260400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr19:42260200-42260600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr19:42260200-42262400	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr19:42260400-42260800	Weak transcription	Fetal Intestine Small	intestine
49	chr19:42260400-42262800	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr19:42260600-42261000	Enhancers	Primary neutrophils fromperipheralblood	blood

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