Variant report

Variant	esv3384883
Chromosome Location	chr19:42253458-42288853
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	BATF	chr19:42257990-42258186	GM12878	blood:	n/a	n/a
2	BHLHE40	chr19:42257236-42257273	A549	lung:	n/a	n/a
3	CBX3	chr19:42278204-42278885	HCT-116	colon:	n/a	n/a
4	CEBPB	chr19:42258406-42258941	MCF-7	breast:	n/a	n/a
5	CEBPB	chr19:42278385-42278849	MCF-7	breast:	n/a	n/a
6	CEBPB	chr19:42258041-42258115	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr19:42258453-42258801	MCF-7	breast:	n/a	n/a
8	CEBPB	chr19:42258033-42258079	K562	blood:	n/a	n/a
9	CEBPB	chr19:42278147-42278921	HCT-116	colon:	n/a	n/a
10	CEBPB	chr19:42278289-42278831	MCF-7	breast:	n/a	n/a
11	CTCF	chr19:42257940-42258090	GM12869	blood:	n/a	n/a
12	CTCF	chr19:42257180-42257330	HMF	breast:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
13	CTCF	chr19:42257240-42257390	GM12869	blood:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
14	CTCF	chr19:42257200-42257350	WERI-Rb-1	eye:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
15	CTCF	chr19:42257135-42257406	GM12878	blood:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
16	CTCF	chr19:42257200-42257350	GM12865	blood:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
17	CTCF	chr19:42257220-42257370	NHEK	skin:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
18	CTCF	chr19:42257840-42257990	NHLF	lung:	n/a	n/a
19	CTCF	chr19:42257853-42258236	GM12878	blood:	n/a	n/a
20	CTCF	chr19:42257200-42257350	HPF	lung:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
21	CTCF	chr19:42257140-42257290	NHDF-neo	bronchial:	n/a	chr19:42257279-42257288
22	CTCF	chr19:42257200-42257350	HCPEpiC	choroid plexus:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
23	CTCF	chr19:42257883-42258166	GM19240	blood:	n/a	n/a
24	CTCF	chr19:42256918-42257030	K562	blood:	n/a	n/a
25	CTCF	chr19:42257940-42258090	GM12871	blood:	n/a	n/a
26	CTCF	chr19:42257159-42257418	GM13977	blood:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
27	CTCF	chr19:42257200-42257350	GM12873	blood:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
28	CTCF	chr19:42257080-42257230	HAc	cerebellar:	n/a	n/a
29	CTCF	chr19:42256220-42256370	GM12872	blood:	n/a	n/a
30	CTCF	chr19:42257684-42257779	GM19240	blood:	n/a	n/a
31	CTCF	chr19:42257149-42257404	GM10266	blood:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
32	CTCF	chr19:42257240-42257390	SAEC	small airway:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
33	CTCF	chr19:42257917-42258177	Pancreas_OC	pancreas:	n/a	n/a
34	CTCF	chr19:42255420-42255570	Caco-2	colon:	n/a	n/a
35	CTCF	chr19:42258140-42258290	HVMF	connective:	n/a	n/a
36	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
37	CTCF	chr19:42257860-42258010	AG04450	lung:	n/a	n/a
38	CTCF	chr19:42257240-42257390	GM12866	blood:	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	chr19:42257940-42258090	A549	lung:	n/a	n/a
40	CTCF	chr19:42257920-42258070	AG09319	gingival:	n/a	n/a
41	CTCF	chr19:42257818-42258201	A549	lung:	n/a	n/a
42	CTCF	chr19:42257697-42257777	GM19238	blood:	n/a	n/a
43	CTCF	chr19:42257920-42258070	GM12865	blood:	n/a	n/a
44	CTCF	chr19:42257180-42257330	NB4	blood:	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	chr19:42257200-42257350	GM12868	blood:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
46	CTCF	chr19:42257495-42257623	Spleen_OC	spleen:	n/a	n/a
47	CTCF	chr19:42257500-42257650	HRE	kidney:	n/a	n/a
48	CTCF	chr19:42257867-42258170	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr19:42257519-42257635	GM10266	blood:	n/a	n/a
50	CTCF	chr19:42256598-42256661	GM19238	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42274924-42274974	HRPEpiC	eye:	n/a
2	chr19:42274924-42274974	U87	brain:	n/a
3	chr19:42259395-42259445	HCF	heart:	n/a
4	chr19:42259081-42259131	HNPCEpiC	eye:	n/a
5	chr19:42275193-42275243	HRE	kidney:	n/a
6	chr19:42260485-42260535	HCPEpiC	choroid plexus:	n/a
7	chr19:42275193-42275243	H1-hESC	embryonic stem cell:	embryo
8	chr19:42259081-42259131	GM06990	blood:	n/a
9	chr19:42275193-42275243	CMK	blood:	n/a
10	chr19:42274924-42274974	MCF10A-Er-Src	breast:	n/a
11	chr19:42258336-42258386	AG09319	gingival:	n/a
12	chr19:42259235-42259285	BE2_C	brain:	n/a
13	chr19:42259235-42259285	LNCaP	prostate:	n/a
14	chr19:42259081-42259131	BJ	skin:	n/a
15	chr19:42259081-42259131	AG09309	skin:	n/a
16	chr19:42260485-42260535	NH-A	brain:	n/a
17	chr19:42260485-42260535	T-47D	breast:	n/a
18	chr19:42258336-42258386	HEK293	kidney:	embryo
19	chr19:42259235-42259285	HCF	heart:	n/a
20	chr19:42275193-42275243	Caco-2	colon:	n/a
21	chr19:42274924-42274974	SK-N-MC	brain:	n/a
22	chr19:42258336-42258386	Hepatocyte	liver:	n/a
23	chr19:42259395-42259445	GM06990	blood:	n/a
24	chr19:42259081-42259131	AG04450	lung:	fetal
25	chr19:42259081-42259131	HCT-116	colon:	n/a
26	chr19:42275193-42275243	AG09319	gingival:	n/a
27	chr19:42259081-42259131	PFSK-1	brain:	n/a
28	chr19:42259395-42259445	PrEC	prostate:	n/a
29	chr19:42275193-42275243	AG04449	skin:	fetal
30	chr19:42259395-42259445	SKMC	muscle:	n/a
31	chr19:42275193-42275243	GM12878	blood:	n/a
32	chr19:42275193-42275243	SAEC	small airway:	n/a
33	chr19:42275193-42275243	GM06990	blood:	n/a
34	chr19:42259235-42259285	Caco-2	colon:	n/a
35	chr19:42274924-42274974	SK-N-SH_RA	brain:	n/a
36	chr19:42259395-42259445	NH-A	brain:	n/a
37	chr19:42275193-42275243	BE2_C	brain:	n/a
38	chr19:42259395-42259445	HRCEpiC	kidney:	n/a
39	chr19:42259395-42259445	Jurkat	blood:	n/a
40	chr19:42258336-42258386	HCM	heart:	n/a
41	chr19:42275193-42275243	AG09309	skin:	n/a
42	chr19:42258336-42258386	Hela-S3	cervix:	n/a
43	chr19:42259395-42259445	BJ	skin:	n/a
44	chr19:42259081-42259131	SK-N-SH_RA	brain:	n/a
45	chr19:42275193-42275243	AG04450	lung:	fetal
46	chr19:42259395-42259445	HRE	kidney:	n/a
47	chr19:42274924-42274974	SKMC	muscle:	n/a
48	chr19:42275193-42275243	SK-N-SH	brain:	n/a
49	chr19:42259235-42259285	ProgFib	skin:	n/a
50	chr19:42274924-42274974	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:42259394..42260982-chr19:42261477..42263046,2	MCF-7	breast:
2	chr19:42252204..42254602-chr19:42292364..42294329,2	MCF-7	breast:
3	chr19:42146223..42148129-chr19:42277106..42278816,2	MCF-7	breast:
4	chr19:42264279..42265864-chr19:42267759..42270746,2	MCF-7	breast:
5	chr19:42281683..42284072-chr19:42363148..42365714,2	MCF-7	breast:
6	chr19:42278941..42284055-chr19:42287718..42293319,7	MCF-7	breast:
7	chr19:42259394..42260982-chr19:42261477..42263046,2	MCF-7	breast:
8	chr19:42252191..42260165-chr19:42275924..42285275,20	MCF-7	breast:
9	chr19:42208175..42212316-chr19:42277076..42281781,5	MCF-7	breast:
10	chr19:42256268..42257789-chr19:42259874..42261531,2	MCF-7	breast:
11	chr19:42274897..42278651-chr19:42287593..42289573,3	MCF-7	breast:
12	chr19:42254797..42261680-chr19:42284783..42292674,12	MCF-7	breast:
13	chr19:42253269..42255875-chr19:42299289..42301420,2	MCF-7	breast:
14	chr19:42258691..42261541-chr19:42266017..42268400,4	MCF-7	breast:
15	chr19:42262778..42266389-chr19:42276917..42279036,3	MCF-7	breast:
16	chr19:42258418..42261395-chr19:42263333..42266210,2	K562	blood:
17	chr19:42211076..42212814-chr19:42288522..42291440,2	MCF-7	breast:
18	chr19:42267949..42271165-chr19:42271348..42273565,4	MCF-7	breast:
19	chr19:42238387..42240007-chr19:42287933..42289826,2	MCF-7	breast:
20	chr19:42256872..42257731-chr19:42277925..42278830,2	MCF-7	breast:
21	chr19:42271676..42273430-chr19:42276461..42278418,2	MCF-7	breast:
22	chr19:42256392..42258478-chr19:42289082..42290564,19	MCF-7	breast:
23	chr19:42250551..42264892-chr19:42273965..42282481,23	MCF-7	breast:
24	chr19:42255651..42257648-chr19:42288124..42290756,2	MCF-7	breast:
25	chr19:42250343..42251080-chr19:42288592..42289100,2	MCF-7	breast:
26	chr19:42278432..42280724-chr19:42363610..42365234,2	MCF-7	breast:
27	chr19:42255651..42257648-chr19:42288124..42290756,2	MCF-7	breast:
28	chr19:42256872..42257731-chr19:42277925..42278830,2	MCF-7	breast:
29	chr19:42254797..42261680-chr19:42284783..42292674,12	MCF-7	breast:
30	chr19:42256322..42257851-chr19:42324890..42325806,7	K562	blood:
31	chr19:42267949..42271165-chr19:42271348..42273565,4	MCF-7	breast:
32	chr19:42256878..42257460-chr19:42288323..42288994,2	MCF-7	breast:
33	chr19:42210733..42211670-chr19:42256878..42258361,4	K562	blood:
34	chr19:42286292..42289272-chr19:42318384..42321210,2	K562	blood:
35	chr19:42257939..42260578-chr19:42260800..42262480,2	K562	blood:
36	chr19:42270435..42273069-chr19:42278370..42280159,2	MCF-7	breast:
37	chr19:42258231..42260656-chr19:42288307..42290436,3	MCF-7	breast:
38	chr19:42283769..42285761-chr19:42286969..42288964,2	MCF-7	breast:
39	chr19:42274897..42278651-chr19:42287593..42289573,3	MCF-7	breast:
40	chr19:42257481..42258252-chr19:42289232..42289768,2	MCF-7	breast:
41	chr19:42280334..42281890-chr19:42288112..42290516,2	MCF-7	breast:
42	chr19:42280334..42281890-chr19:42288112..42290516,2	MCF-7	breast:
43	chr19:42265754..42267325-chr19:42289223..42291890,2	K562	blood:
44	chr19:42283769..42285761-chr19:42286969..42288964,2	MCF-7	breast:
45	chr19:42261241..42262900-chr19:42275127..42276730,2	MCF-7	breast:
46	chr19:42261241..42262900-chr19:42275127..42276730,2	MCF-7	breast:
47	chr19:42256816..42257733-chr19:42462027..42462557,2	K562	blood:
48	chr19:42270435..42273069-chr19:42278370..42280159,2	MCF-7	breast:
49	chr19:42259424..42262726-chr19:42264710..42268289,4	K562	blood:
50	chr19:42278093..42278816-chr19:42296664..42297371,2	MCF-7	breast:

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

Variant related genes	Relation type
CEACAM6	TF binding region
CEACAM6	CpG island
ENSG00000105388	chromatin interactions
ENSG00000105372	chromatin interactions
ENSG00000170956	chromatin interactions
ENSG00000267881	chromatin interactions
ENSG00000007306	chromatin interactions
ENSG00000268833	chromatin interactions
ENSG00000086548	chromatin interactions
ENSG00000269354	chromatin interactions
ENSG00000168564	chromatin interactions

Extended variants
information (count: 1398 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1398 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112020308	chr19:42253497-42253498	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs530641911	chr19:42253510-42253511	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552377391	chr19:42253527-42253528	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs570439181	chr19:42253556-42253557	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs528230058	chr19:42253593-42253594	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs367576605	chr19:42253597-42253598	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs546231770	chr19:42253617-42253618	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs568072385	chr19:42253728-42253729	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs202234930	chr19:42253936-42253937	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs386809396	chr19:42254019-42254020	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs372163229	chr19:42254036-42254037	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs528621873	chr19:42254042-42254043	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs536910343	chr19:42254097-42254098	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs28733096	chr19:42254108-42254109	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs555322582	chr19:42254183-42254184	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs570388533	chr19:42254203-42254204	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs537231391	chr19:42254240-42254241	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs568593176	chr19:42254319-42254320	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs559143436	chr19:42254324-42254325	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs577261613	chr19:42254388-42254389	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs34745928	chr19:42254428-42254429	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs541521291	chr19:42254432-42254433	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs184478642	chr19:42254434-42254435	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs112832812	chr19:42254451-42254452	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs112570902	chr19:42254523-42254524	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs541695565	chr19:42254550-42254551	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs563221151	chr19:42254623-42254624	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs369307706	chr19:42254640-42254641	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs116042899	chr19:42254741-42254742	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs187357382	chr19:42254755-42254756	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs537926460	chr19:42254763-42254764	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs528133330	chr19:42254769-42254770	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs149347415	chr19:42254818-42254819	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs111409303	chr19:42254827-42254828	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs568032566	chr19:42254833-42254834	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs528872168	chr19:42254869-42254870	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs550628004	chr19:42254900-42254901	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs570352202	chr19:42254940-42254941	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs537792693	chr19:42254990-42254991	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs191699677	chr19:42255011-42255012	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs571036460	chr19:42255018-42255019	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs557137467	chr19:42255031-42255032	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs114865081	chr19:42255035-42255036	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs553075996	chr19:42255054-42255055	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs73932085	chr19:42255078-42255079	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs183838384	chr19:42255161-42255162	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs556976698	chr19:42255219-42255220	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs189243722	chr19:42255225-42255226	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs575083200	chr19:42255293-42255294	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs546081884	chr19:42255305-42255306	Enhancers Weak transcription	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:298 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42251000-42254400	Weak transcription	Pancreas	Pancrea
2	chr19:42251400-42256200	Weak transcription	Esophagus	oesophagus
3	chr19:42252400-42254400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr19:42252800-42254400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr19:42253200-42253800	Weak transcription	Fetal Intestine Large	intestine
6	chr19:42253200-42254400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr19:42253200-42254600	Weak transcription	Colonic Mucosa	Colon
8	chr19:42253200-42254600	Weak transcription	Fetal Intestine Small	intestine
9	chr19:42253200-42254600	Weak transcription	Stomach Mucosa	stomach
10	chr19:42254400-42254800	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr19:42254400-42255000	Enhancers	Rectal Smooth Muscle	rectum
12	chr19:42254400-42255400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr19:42254400-42255800	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr19:42254400-42256800	Enhancers	Pancreas	Pancrea
15	chr19:42254400-42260200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr19:42254600-42254800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr19:42254600-42254800	Enhancers	Colonic Mucosa	Colon
18	chr19:42254600-42254800	Enhancers	Fetal Intestine Small	intestine
19	chr19:42254600-42255000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr19:42254600-42255000	Enhancers	Small Intestine	intestine
21	chr19:42254600-42258000	Enhancers	Stomach Mucosa	stomach
22	chr19:42254800-42255000	Bivalent Enhancer	Brain Hippocampus Middle	brain
23	chr19:42254800-42255000	Flanking Active TSS	Colonic Mucosa	Colon
24	chr19:42254800-42255000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
25	chr19:42254800-42255600	Enhancers	Colon Smooth Muscle	Colon
26	chr19:42254800-42259200	Weak transcription	Fetal Intestine Small	intestine
27	chr19:42255000-42255200	Enhancers	Colonic Mucosa	Colon
28	chr19:42255000-42255200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr19:42255200-42255400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr19:42255200-42259000	Weak transcription	Colonic Mucosa	Colon
31	chr19:42255400-42256400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr19:42255400-42257600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr19:42255400-42259200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr19:42255600-42256000	Weak transcription	Colon Smooth Muscle	Colon
35	chr19:42255800-42259000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr19:42256000-42257000	Enhancers	Colon Smooth Muscle	Colon
37	chr19:42256000-42257000	Enhancers	Gastric	stomach
38	chr19:42256200-42257000	Enhancers	Esophagus	oesophagus
39	chr19:42256400-42258400	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr19:42256600-42257200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr19:42256800-42257800	Weak transcription	Pancreas	Pancrea
42	chr19:42257000-42258200	Weak transcription	Colon Smooth Muscle	Colon
43	chr19:42257000-42259200	Weak transcription	Esophagus	oesophagus
44	chr19:42257200-42257600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr19:42257200-42258000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr19:42257200-42258000	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr19:42257400-42258000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr19:42257600-42258000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr19:42257600-42258000	Enhancers	Primary B cells from peripheral blood	blood
50	chr19:42257600-42258000	Enhancers	Duodenum Mucosa	Duodenum

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