Variant report

Variant	esv3425986
Chromosome Location	chr19:42212540-42259719
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	BRCA1	chr19:42250661-42250845	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr19:42223902-42224102	IMR90	lung:	n/a	n/a
5	CEBPB	chr19:42233831-42233834	A549	lung:	n/a	n/a
6	CEBPB	chr19:42223922-42224118	K562	blood:	n/a	n/a
7	CEBPB	chr19:42223908-42224136	A549	lung:	n/a	n/a
8	CEBPB	chr19:42258041-42258115	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr19:42242689-42242939	A549	lung:	n/a	n/a
10	CEBPB	chr19:42258406-42258941	MCF-7	breast:	n/a	n/a
11	CEBPB	chr19:42258033-42258079	K562	blood:	n/a	n/a
12	CEBPB	chr19:42223910-42224134	HepG2	liver:	n/a	n/a
13	CEBPB	chr19:42258453-42258801	MCF-7	breast:	n/a	n/a
14	CTCF	chr19:42257920-42258070	AG09319	gingival:	n/a	n/a
15	CTCF	chr19:42257220-42257370	HCT-116	colon:	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	chr19:42257149-42257404	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
17	CTCF	chr19:42250640-42250790	GM12874	blood:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
18	CTCF	chr19:42250627-42250886	GM12892	blood:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
19	CTCF	chr19:42257920-42258070	BJ	skin:	n/a	n/a
20	CTCF	chr19:42257920-42258070	HAc	cerebellar:	n/a	n/a
21	CTCF	chr19:42257040-42257442	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
22	CTCF	chr19:42256995-42257064	HUVEC	blood vessel:	n/a	n/a
23	CTCF	chr19:42257220-42257370	HFF-Myc	foreskin:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
24	CTCF	chr19:42257140-42257290	GM12801	blood:	n/a	chr19:42257279-42257288
25	CTCF	chr19:42257220-42257370	GM12872	blood:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
26	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
27	CTCF	chr19:42257220-42257370	HA-sp	spinal cord:	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	chr19:42257859-42258228	K562	blood:	n/a	n/a
29	CTCF	chr19:42250630-42250842	GM13977	blood:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
30	CTCF	chr19:42250700-42250850	GM12868	blood:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
31	CTCF	chr19:42256920-42257070	AG04449	skin:	n/a	n/a
32	CTCF	chr19:42258340-42258490	GM06990	blood:	n/a	n/a
33	CTCF	chr19:42250660-42250810	Caco-2	colon:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
34	CTCF	chr19:42257180-42257330	HAc	cerebellar:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
35	CTCF	chr19:42257920-42258070	SAEC	small airway:	n/a	n/a
36	CTCF	chr19:42250450-42250937	A549	lung:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
37	CTCF	chr19:42250629-42250848	ProgFib	skin:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
38	CTCF	chr19:42257560-42257710	GM12870	blood:	n/a	n/a
39	CTCF	chr19:42230560-42230710	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr19:42250541-42250917	GM12878	blood:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
41	CTCF	chr19:42230540-42230690	HepG2	liver:	n/a	n/a
42	CTCF	chr19:42257163-42257397	Fibrobl	skin:	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	chr19:42230560-42230710	GM12870	blood:	n/a	n/a
44	CTCF	chr19:42250640-42250790	WERI-Rb-1	eye:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
45	CTCF	chr19:42230620-42230770	BE2_C	brain:	n/a	n/a
46	CTCF	chr19:42257168-42257398	T-47D	breast:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
47	CTCF	chr19:42257679-42257756	GM12891	blood:	n/a	n/a
48	CTCF	chr19:42257506-42257619	GM12892	blood:	n/a	n/a
49	CTCF	chr19:42257200-42257350	AoAF	blood vessel:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
50	CTCF	chr19:42257152-42257403	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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42234062-42234112	HEEpiC	esophagus:	n/a
2	chr19:42234062-42234112	HEEpiC	esophagus:	n/a
3	chr19:42219138-42219188	NHBE	bronchial:	n/a
4	chr19:42234062-42234112	AG04449	skin:	fetal
5	chr19:42221239-42221289	HRPEpiC	eye:	n/a
6	chr19:42221417-42221467	Jurkat	blood:	n/a
7	chr19:42234062-42234112	HCT-116	colon:	n/a
8	chr19:42234062-42234112	HCPEpiC	choroid plexus:	n/a
9	chr19:42212501-42212551	SKMC	muscle:	n/a
10	chr19:42213020-42213070	AG04449	skin:	fetal
11	chr19:42212594-42212644	ovcar-3	ovarian:	n/a
12	chr19:42212594-42212644	MCF-7	breast:	n/a
13	chr19:42259395-42259445	K562	blood:	n/a
14	chr19:42221417-42221467	NH-A	brain:	n/a
15	chr19:42221239-42221289	ProgFib	skin:	n/a
16	chr19:42212501-42212551	HPAEpiC	pulmonary alveolar:	n/a
17	chr19:42219138-42219188	PANC-1	pancreas:	n/a
18	chr19:42259235-42259285	HCT-116	colon:	n/a
19	chr19:42258336-42258386	K562	blood:	n/a
20	chr19:42219575-42219625	GM19239	blood:	n/a
21	chr19:42259395-42259445	HRE	kidney:	n/a
22	chr19:42221417-42221467	GM06990	blood:	n/a
23	chr19:42219138-42219188	AG04449	skin:	fetal
24	chr19:42213763-42213813	HPAEpiC	pulmonary alveolar:	n/a
25	chr19:42212594-42212644	SK-N-SH	brain:	n/a
26	chr19:42212501-42212551	HCF	heart:	n/a
27	chr19:42234062-42234112	HMEC	breast:	n/a
28	chr19:42259235-42259285	ovcar-3	ovarian:	n/a
29	chr19:42259235-42259285	NH-A	brain:	n/a
30	chr19:42212594-42212644	GM12878	blood:	n/a
31	chr19:42219575-42219625	SKMC	muscle:	n/a
32	chr19:42213763-42213813	SK-N-SH	brain:	n/a
33	chr19:42259081-42259131	IMR90	lung:	fetal
34	chr19:42258336-42258386	HepG2	liver:	n/a
35	chr19:42213020-42213070	AG10803	skin:	n/a
36	chr19:42219138-42219188	HCF	heart:	n/a
37	chr19:42212594-42212644	HRCEpiC	kidney:	n/a
38	chr19:42259235-42259285	PrEC	prostate:	n/a
39	chr19:42258336-42258386	PFSK-1	brain:	n/a
40	chr19:42258336-42258386	HAEpiC	amniotic membrane:	n/a
41	chr19:42259395-42259445	GM19239	blood:	n/a
42	chr19:42259235-42259285	H1-hESC	embryonic stem cell:	embryo
43	chr19:42212501-42212551	ovcar-3	ovarian:	n/a
44	chr19:42219575-42219625	GM12892	blood:	n/a
45	chr19:42212594-42212644	GM12891	blood:	n/a
46	chr19:42212501-42212551	HL-60	blood:	n/a
47	chr19:42212501-42212551	BJ	skin:	n/a
48	chr19:42221239-42221289	HRCEpiC	kidney:	n/a
49	chr19:42219575-42219625	PANC-1	pancreas:	n/a
50	chr19:42213763-42213813	HL-60	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:42238387..42240007-chr19:42287933..42289826,2	MCF-7	breast:
2	chr19:42211274..42215758-chr19:42247463..42250284,5	MCF-7	breast:
3	chr19:42236810..42239386-chr19:42242980..42245122,2	MCF-7	breast:
4	chr19:42249789..42252137-chr19:42296229..42297905,2	MCF-7	breast:
5	chr19:42210648..42213513-chr19:42249142..42252570,4	MCF-7	breast:
6	chr19:42255651..42257648-chr19:42288124..42290756,2	MCF-7	breast:
7	chr19:42238634..42240225-chr19:42250463..42251967,2	MCF-7	breast:
8	chr19:42209556..42212105-chr19:42250130..42251602,39	MCF-7	breast:
9	chr19:42254797..42261680-chr19:42284783..42292674,12	MCF-7	breast:
10	chr19:42250749..42252304-chr19:42286973..42289582,3	MCF-7	breast:
11	chr19:42231958..42233812-chr19:42235841..42238635,2	MCF-7	breast:
12	chr19:42236111..42237645-chr19:42240491..42242785,2	MCF-7	breast:
13	chr19:42245127..42247870-chr19:42365049..42367593,2	MCF-7	breast:
14	chr19:42211491..42212027-chr19:42250292..42251139,2	K562	blood:
15	chr19:42257481..42258252-chr19:42289232..42289768,2	MCF-7	breast:
16	chr19:42252204..42254602-chr19:42292364..42294329,2	MCF-7	breast:
17	chr19:42239120..42241385-chr19:42295507..42297479,2	MCF-7	breast:
18	chr19:42256816..42257733-chr19:42462027..42462557,2	K562	blood:
19	chr19:42236810..42239386-chr19:42242980..42245122,2	MCF-7	breast:
20	chr19:42236787..42239038-chr19:42291310..42293242,2	MCF-7	breast:
21	chr19:42236111..42237645-chr19:42240491..42242785,2	MCF-7	breast:
22	chr19:42210733..42211670-chr19:42256878..42258361,4	K562	blood:
23	chr19:42238634..42240225-chr19:42250463..42251967,2	MCF-7	breast:
24	chr19:42147220..42149633-chr19:42250736..42252324,3	MCF-7	breast:
25	chr19:42259394..42260982-chr19:42261477..42263046,2	MCF-7	breast:
26	chr19:42214835..42216861-chr19:42256777..42258757,2	MCF-7	breast:
27	chr19:42217628..42220315-chr19:42227201..42229825,2	MCF-7	breast:
28	chr19:42209137..42209823-chr19:42250235..42251244,3	MCF-7	breast:
29	chr19:42217425..42220224-chr19:42223601..42226493,2	MCF-7	breast:
30	chr19:42210533..42211382-chr19:42250275..42251260,3	K562	blood:
31	chr19:42209857..42214315-chr19:42238440..42242363,6	MCF-7	breast:
32	chr19:42245444..42247373-chr19:42295187..42298077,2	MCF-7	breast:
33	chr19:42211076..42212814-chr19:42288522..42291440,2	MCF-7	breast:
34	chr19:42231958..42233812-chr19:42235841..42238635,2	MCF-7	breast:
35	chr19:42210030..42211723-chr19:42249785..42251642,16	MCF-7	breast:
36	chr19:42217628..42220315-chr19:42227201..42229825,2	MCF-7	breast:
37	chr19:42238516..42241298-chr19:42363938..42365651,2	MCF-7	breast:
38	chr19:42217425..42220224-chr19:42223601..42226493,2	MCF-7	breast:
39	chr19:42238606..42240791-chr19:42240952..42244965,6	MCF-7	breast:
40	chr19:42148303..42148992-chr19:42250108..42251260,4	K562	blood:
41	chr19:42256878..42257460-chr19:42288323..42288994,2	MCF-7	breast:
42	chr19:42212037..42212962-chr19:42250295..42251188,4	MCF-7	breast:
43	chr19:42256872..42257731-chr19:42277925..42278830,2	MCF-7	breast:
44	chr19:42253269..42255875-chr19:42299289..42301420,2	MCF-7	breast:
45	chr12:110150287..110151979-chr19:42225644..42228093,2	MCF-7	breast:
46	chr19:42229256..42231209-chr19:42253905..42256150,2	K562	blood:
47	chr19:42147964..42148906-chr19:42250000..42251190,4	MCF-7	breast:
48	chr19:42220661..42222319-chr19:42226659..42229003,2	MCF-7	breast:
49	chr19:42212393..42215369-chr19:42228630..42231266,2	MCF-7	breast:
50	chr19:42220181..42222450-chr19:42222480..42224741,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CEACAM6-1	chr19:42212540-42212714	NONHSAT066483
2	lnc-CEACAM6-1	chr19:42213599-42214002	NONHSAT066483

Variant related genes	Relation type
ENSG00000267881	TF binding region
CEACAM6	TF binding region
CEACAM5	TF binding region
CEACAM7	TF binding region
ENSG00000267881	CpG island
CEACAM6	CpG island
CEACAM5	CpG island
CEACAM7	CpG island
ENSG00000086548	chromatin interactions
ENSG00000170956	chromatin interactions
ENSG00000007306	chromatin interactions
ENSG00000105388	chromatin interactions
ENSG00000267881	chromatin interactions
ENSG00000268833	chromatin interactions
ENSG00000105372	chromatin interactions

Extended variants
information (count: 1974 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1974 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs45537140	chr19:42212613-42212614	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
2	rs190377739	chr19:42212621-42212622	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs45614132	chr19:42212622-42212623	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs115233397	chr19:42212644-42212645	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs267605502	chr19:42212661-42212662	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs201518445	chr19:42212664-42212665	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs200391100	chr19:42212689-42212690	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs200859918	chr19:42212701-42212702	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs538013635	chr19:42212739-42212740	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs144340352	chr19:42212744-42212745	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs200207181	chr19:42212745-42212746	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs111973464	chr19:42212753-42212754	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs72455487	chr19:42212754-42212755	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs3217253	chr19:42212755-42212756	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs114263190	chr19:42212797-42212798	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs544755548	chr19:42212811-42212812	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs8113098	chr19:42212819-42212820	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs182639723	chr19:42212826-42212827	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs542655390	chr19:42212874-42212875	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs562323116	chr19:42212908-42212909	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs187608648	chr19:42212919-42212920	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs544761106	chr19:42212941-42212942	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs76806056	chr19:42212974-42212975	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs369318726	chr19:42212981-42212982	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs533603769	chr19:42213000-42213001	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs551460723	chr19:42213014-42213015	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs529125196	chr19:42213027-42213028	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	CpG island	2 gene(s)	Overlapped CNVs	n/a
28	rs73545178	chr19:42213029-42213030	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	CpG island	2 gene(s)	Overlapped CNVs	n/a
29	rs547621122	chr19:42213030-42213031	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	CpG island	2 gene(s)	Overlapped CNVs	n/a
30	rs527630512	chr19:42213066-42213067	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	CpG island	2 gene(s)	Overlapped CNVs	n/a
31	rs548985087	chr19:42213104-42213105	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs567514133	chr19:42213112-42213113	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs565830362	chr19:42213122-42213123	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs539766150	chr19:42213128-42213129	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs112637399	chr19:42213137-42213138	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs537734302	chr19:42213162-42213163	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs556449609	chr19:42213192-42213193	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs117222609	chr19:42213223-42213224	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs569702888	chr19:42213240-42213241	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs538875906	chr19:42213243-42213244	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs553862876	chr19:42213252-42213253	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs572175711	chr19:42213261-42213262	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs4802127	chr19:42213276-42213277	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs554620558	chr19:42213277-42213278	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs555480936	chr19:42213291-42213292	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs111736472	chr19:42213295-42213296	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs375743111	chr19:42213359-42213360	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs544559768	chr19:42213360-42213361	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs147741773	chr19:42213407-42213408	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs59654817	chr19:42213408-42213409	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

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

Chromatin state (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42211000-42214200	Active TSS	Rectal Smooth Muscle	rectum
2	chr19:42211200-42212600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
3	chr19:42211400-42212600	Weak transcription	Fetal Intestine Small	intestine
4	chr19:42211600-42212600	Weak transcription	Fetal Intestine Large	intestine
5	chr19:42212000-42216200	Active TSS	Esophagus	oesophagus
6	chr19:42212000-42222800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:42212400-42213200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
8	chr19:42212400-42213800	Active TSS	Colonic Mucosa	Colon
9	chr19:42212400-42214400	Active TSS	Stomach Mucosa	stomach
10	chr19:42212600-42212800	Enhancers	Fetal Intestine Large	intestine
11	chr19:42212600-42212800	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr19:42212600-42212800	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
13	chr19:42212600-42214000	Active TSS	Small Intestine	intestine
14	chr19:42212600-42215200	Active TSS	Fetal Intestine Small	intestine
15	chr19:42212800-42213000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr19:42212800-42213800	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr19:42213000-42213400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr19:42213000-42213600	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr19:42213000-42215000	Active TSS	Fetal Stomach	stomach
20	chr19:42213200-42213600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr19:42213600-42214000	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr19:42213600-42217200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
23	chr19:42213800-42216600	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
24	chr19:42213800-42216600	Transcr. at gene 5' and 3'	Sigmoid Colon	Sigmoid Colon
25	chr19:42214000-42214600	Bivalent/Poised TSS	Small Intestine	intestine
26	chr19:42214000-42217000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
27	chr19:42214200-42214600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
28	chr19:42214400-42215000	Weak transcription	Stomach Mucosa	stomach
29	chr19:42214600-42216400	Active TSS	Small Intestine	intestine
30	chr19:42214600-42216600	Active TSS	Rectal Smooth Muscle	rectum
31	chr19:42215000-42216200	Active TSS	Stomach Mucosa	stomach
32	chr19:42215200-42216000	Weak transcription	Fetal Intestine Small	intestine
33	chr19:42216000-42216200	Active TSS	Fetal Intestine Small	intestine
34	chr19:42216200-42221000	Weak transcription	Esophagus	oesophagus
35	chr19:42216200-42222400	Weak transcription	Stomach Mucosa	stomach
36	chr19:42216600-42217200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr19:42216600-42217400	Weak transcription	Colonic Mucosa	Colon
38	chr19:42216600-42228200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr19:42217000-42217800	Genic enhancers	Rectal Mucosa Donor 29	rectum
40	chr19:42217200-42217800	Genic enhancers	Rectal Mucosa Donor 31	rectum
41	chr19:42217200-42225800	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr19:42217400-42218000	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
43	chr19:42217800-42226400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr19:42217800-42230200	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr19:42217800-42231200	Weak transcription	Fetal Intestine Small	intestine
46	chr19:42218000-42218600	Strong transcription	Colonic Mucosa	Colon
47	chr19:42218600-42218800	Genic enhancers	Colonic Mucosa	Colon
48	chr19:42218800-42226200	Strong transcription	Colonic Mucosa	Colon
49	chr19:42221000-42222000	Strong transcription	Esophagus	oesophagus
50	chr19:42221200-42221400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

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