Variant report

Variant	esv3376613
Chromosome Location	chr19:55952665-55955513
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:158)
CpG islands
(count:428)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:158 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr19:55952521-55952959	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr19:55953522-55953630	K562	blood:	n/a	n/a
3	CBX3	chr19:55953314-55953679	K562	blood:	n/a	n/a
4	CCNT2	chr19:55954033-55954099	K562	blood:	n/a	n/a
5	CCNT2	chr19:55955319-55955574	K562	blood:	n/a	n/a
6	CEBPB	chr19:55954922-55955122	A549	lung:	n/a	n/a
7	CEBPB	chr19:55952279-55952667	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPD	chr19:55955179-55955674	K562	blood:	n/a	n/a
9	CEBPD	chr19:55955172-55955697	K562	blood:	n/a	n/a
10	CREB1	chr19:55954903-55955171	A549	lung:	n/a	n/a
11	CTCF	chr19:55953916-55954015	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr19:55955120-55955270	K562	blood:	n/a	n/a
13	CTCF	chr19:55953867-55954050	MCF-7	breast:	n/a	n/a
14	CTCF	chr19:55953865-55954044	MCF-7	breast:	n/a	n/a
15	CTCF	chr19:55955008-55955066	HUVEC	blood vessel:	n/a	n/a
16	CTCF	chr19:55954992-55955057	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr19:55954880-55955030	GM12873	blood:	n/a	n/a
18	CTCF	chr19:55954960-55955110	SAEC	small airway:	n/a	n/a
19	CTCF	chr19:55955014-55955034	GM12878	blood:	n/a	n/a
20	CTCF	chr19:55954953-55955065	MCF-7	breast:	n/a	n/a
21	CTCF	chr19:55953901-55953912	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr19:55954915-55955002	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr19:55954900-55955050	HEK293	kidney:	n/a	n/a
24	CTCF	chr19:55953929-55953980	MCF-7	breast:	n/a	n/a
25	CTCF	chr19:55954923-55955102	Gliobla	brain:	n/a	n/a
26	CTCF	chr19:55954900-55955050	GM12871	blood:	n/a	n/a
27	CTCF	chr19:55953849-55954073	MCF-7	breast:	n/a	n/a
28	CTCF	chr19:55954961-55955051	K562	blood:	n/a	n/a
29	CTCF	chr19:55953985-55954005	K562	blood:	n/a	n/a
30	CTCF	chr19:55954135-55954157	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr19:55954940-55955090	HRE	kidney:	n/a	n/a
32	CTCF	chr19:55954900-55955050	A549	lung:	n/a	n/a
33	CTCF	chr19:55954984-55955077	NHEK	skin:	n/a	n/a
34	CTCF	chr19:55954007-55954014	K562	blood:	n/a	n/a
35	CTCF	chr19:55952760-55952910	GM12865	blood:	n/a	n/a
36	CTCF	chr19:55954844-55955103	A549	lung:	n/a	n/a
37	CTCF	chr19:55954940-55955081	A549	lung:	n/a	n/a
38	CTCF	chr19:55955000-55955150	HEK293	kidney:	n/a	n/a
39	CTCF	chr19:55953911-55954003	MCF-7	breast:	n/a	n/a
40	CTCF	chr19:55954880-55955030	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr19:55954900-55955050	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr19:55954800-55954950	SAEC	small airway:	n/a	n/a
43	CTCF	chr19:55954987-55955043	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr19:55953020-55953170	GM12873	blood:	n/a	n/a
45	CTCF	chr19:55954980-55955130	HL-60	blood:	n/a	n/a
46	CTCF	chr19:55954160-55954185	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr19:55952799-55952906	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr19:55954940-55955090	A549	lung:	n/a	n/a
49	CTCF	chr19:55954920-55955070	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr19:55955000-55955150	BJ	skin:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:55953951-55954001	HMEC	breast:	n/a
2	chr19:55953951-55954001	HMEC	breast:	n/a
3	chr19:55953372-55953422	PANC-1	pancreas:	n/a
4	chr19:55954621-55954671	SAEC	small airway:	n/a
5	chr19:55954973-55955023	SKMC	muscle:	n/a
6	chr19:55953372-55953422	SK-N-SH_RA	brain:	n/a
7	chr19:55953996-55954046	AoSMC	blood vessel:	n/a
8	chr19:55953996-55954046	IMR90	lung:	fetal
9	chr19:55953951-55954001	NH-A	brain:	n/a
10	chr19:55954973-55955023	RPTEC	kidney:	n/a
11	chr19:55954276-55954326	Hela-S3	cervix:	n/a
12	chr19:55953372-55953422	HEK293	kidney:	embryo
13	chr19:55955292-55955342	PFSK-1	brain:	n/a
14	chr19:55953372-55953422	NH-A	brain:	n/a
15	chr19:55953372-55953422	Jurkat	blood:	n/a
16	chr19:55953951-55954001	SK-N-SH	brain:	n/a
17	chr19:55953951-55954001	HEEpiC	esophagus:	n/a
18	chr19:55954621-55954671	MCF-7	breast:	n/a
19	chr19:55953951-55954001	Jurkat	blood:	n/a
20	chr19:55954621-55954671	ovcar-3	ovarian:	n/a
21	chr19:55953951-55954001	PFSK-1	brain:	n/a
22	chr19:55955292-55955342	H1-hESC	embryonic stem cell:	embryo
23	chr19:55954621-55954671	IMR90	lung:	fetal
24	chr19:55954621-55954671	AG04449	skin:	fetal
25	chr19:55954973-55955023	NB4	blood:	n/a
26	chr19:55954276-55954326	NB4	blood:	n/a
27	chr19:55953372-55953422	BE2_C	brain:	n/a
28	chr19:55955292-55955342	HIPEpiC	eye:	n/a
29	chr19:55954973-55955023	Jurkat	blood:	n/a
30	chr19:55954276-55954326	SK-N-SH	brain:	n/a
31	chr19:55955292-55955342	HRPEpiC	eye:	n/a
32	chr19:55953372-55953422	GM12878	blood:	n/a
33	chr19:55954973-55955023	MCF10A-Er-Src	breast:	n/a
34	chr19:55954973-55955023	T-47D	breast:	n/a
35	chr19:55953951-55954001	T-47D	breast:	n/a
36	chr19:55953372-55953422	AG04450	lung:	fetal
37	chr19:55954276-55954326	HCT-116	colon:	n/a
38	chr19:55954621-55954671	GM06990	blood:	n/a
39	chr19:55953996-55954046	HL-60	blood:	n/a
40	chr19:55953996-55954046	H1-hESC	embryonic stem cell:	embryo
41	chr19:55953996-55954046	NH-A	brain:	n/a
42	chr19:55953372-55953422	HPAEpiC	pulmonary alveolar:	n/a
43	chr19:55955292-55955342	AG04449	skin:	fetal
44	chr19:55953996-55954046	HIPEpiC	eye:	n/a
45	chr19:55954973-55955023	AG09319	gingival:	n/a
46	chr19:55953996-55954046	SK-N-MC	brain:	n/a
47	chr19:55954621-55954671	AG09309	skin:	n/a
48	chr19:55953951-55954001	HAEpiC	amniotic membrane:	n/a
49	chr19:55953372-55953422	U87	brain:	n/a
50	chr19:55954973-55955023	NH-A	brain:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55767479..55769662-chr19:55951902..55953549,2	MCF-7	breast:
2	chr19:55949680..55954432-chr19:55969839..55974899,6	K562	blood:
3	chr19:55791270..55793357-chr19:55950803..55953451,2	K562	blood:
4	chr19:55954516..55956237-chr19:55997093..55998722,2	K562	blood:
5	chr19:55953960..55955842-chr19:55970927..55973653,2	MCF-7	breast:
6	chr19:55727003..55728897-chr19:55950447..55953853,4	K562	blood:
7	chr19:55726934..55728897-chr19:55951676..55953853,3	K562	blood:
8	chr19:55955261..55957047-chr19:55971752..55973934,2	K562	blood:
9	chr19:55954944..55957825-chr19:55969306..55971462,2	K562	blood:
10	chr19:55789771..55793296-chr19:55950803..55954133,4	K562	blood:
11	chr19:55910844..55913006-chr19:55952542..55954951,2	K562	blood:
12	chr19:55897252..55900237-chr19:55952546..55954535,2	K562	blood:
13	chr19:55917609..55921205-chr19:55953986..55957164,3	MCF-7	breast:
14	chr19:55626730..55629405-chr19:55950421..55953047,2	K562	blood:
15	chr19:55766019..55768173-chr19:55952216..55954290,2	K562	blood:
16	chr19:55950723..55953824-chr19:55986697..55989266,3	K562	blood:
17	chr19:55950973..55953730-chr19:56134853..56137596,2	K562	blood:
18	chr19:55692071..55693997-chr19:55950294..55952770,2	K562	blood:
19	chr19:55950796..55953996-chr19:55973168..55975458,3	K562	blood:
20	chr19:55917160..55921382-chr19:55952217..55958073,12	K562	blood:
21	chr19:55896562..55898629-chr19:55953119..55955892,2	MCF-7	breast:
22	chr19:55947182..55950388-chr19:55950441..55953664,3	K562	blood:
23	chr19:55917160..55920807-chr19:55952217..55954554,6	K562	blood:
24	chr19:55951074..55953797-chr19:55995529..55999073,3	K562	blood:
25	chr19:55954834..55957911-chr19:55959708..55962559,3	K562	blood:

No data

Variant related genes	Relation type
SHISA7	TF binding region
SHISA7	CpG island
ENSG00000108106	chromatin interactions
ENSG00000105063	chromatin interactions
ENSG00000090971	chromatin interactions
ENSG00000125503	chromatin interactions
ENSG00000108107	chromatin interactions
ENSG00000269859	chromatin interactions
ENSG00000197483	chromatin interactions
ENSG00000063241	chromatin interactions
ENSG00000267093	chromatin interactions
ENSG00000267649	chromatin interactions
ENSG00000179922	chromatin interactions
ENSG00000133265	chromatin interactions

Extended variants
information (count: 79 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73606265	chr19:55952724-55952725	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548719595	chr19:55952760-55952761	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs538624790	chr19:55952815-55952816	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs116990970	chr19:55952820-55952821	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs373883839	chr19:55952824-55952825	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs537561422	chr19:55952867-55952868	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs188422624	chr19:55952868-55952869	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs79830083	chr19:55952899-55952900	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs527781970	chr19:55952956-55952957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs181310171	chr19:55952960-55952961	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs574693179	chr19:55952972-55952973	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs147245782	chr19:55952973-55952974	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs185782364	chr19:55952984-55952985	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs577152796	chr19:55952995-55952996	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs556184917	chr19:55953001-55953002	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs192081455	chr19:55953004-55953005	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs569805776	chr19:55953015-55953016	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs570875569	chr19:55953029-55953030	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs538212880	chr19:55953037-55953038	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs148291085	chr19:55953060-55953061	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs113551881	chr19:55953091-55953092	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs562256796	chr19:55953158-55953159	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs182069354	chr19:55953185-55953186	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs546854117	chr19:55953246-55953247	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs560461030	chr19:55953251-55953252	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs187218283	chr19:55953261-55953262	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs368174668	chr19:55953289-55953290	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs10407457	chr19:55953339-55953340	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs552119071	chr19:55953341-55953342	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs141475212	chr19:55953365-55953366	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs150847001	chr19:55953366-55953367	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs547972925	chr19:55953372-55953373	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs567852512	chr19:55953382-55953383	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs568304859	chr19:55953458-55953459	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs368056686	chr19:55953470-55953471	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs577093165	chr19:55953493-55953494	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs10408978	chr19:55953504-55953505	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs370724906	chr19:55953520-55953521	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs77493998	chr19:55953590-55953591	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs370563796	chr19:55953661-55953662	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs374428713	chr19:55953691-55953692	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs542249242	chr19:55953994-55953995	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs562026468	chr19:55954005-55954006	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs572603095	chr19:55954277-55954278	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs540403933	chr19:55954314-55954315	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs139584250	chr19:55954345-55954346	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs553548450	chr19:55954357-55954358	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs112677462	chr19:55954399-55954400	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs4133107	chr19:55954463-55954464	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs562846532	chr19:55954487-55954488	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55941200-55953400	Weak transcription	Right Atrium	heart
2	chr19:55951400-55953600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr19:55951600-55952800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
4	chr19:55951600-55953000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
5	chr19:55951600-55953000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
6	chr19:55951600-55953200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:55951600-55953400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr19:55951600-55953400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr19:55951600-55953600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr19:55951600-55953600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
11	chr19:55951600-55953600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
12	chr19:55951600-55953600	Bivalent Enhancer	Fetal Thymus	thymus
13	chr19:55951600-55953800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:55951600-55955200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr19:55951600-55955200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr19:55951800-55952800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr19:55951800-55953000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr19:55951800-55953400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
19	chr19:55951800-55953400	Bivalent Enhancer	Colonic Mucosa	Colon
20	chr19:55951800-55953400	Bivalent Enhancer	Spleen	Spleen
21	chr19:55951800-55953600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:55951800-55953600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
23	chr19:55951800-55953600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr19:55951800-55953600	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr19:55951800-55953800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
26	chr19:55951800-55954800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
27	chr19:55951800-55955000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr19:55952000-55953000	Bivalent Enhancer	Primary B cells from cord blood	blood
29	chr19:55952000-55953000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
30	chr19:55952000-55953000	Enhancers	Brain Substantia Nigra	brain
31	chr19:55952000-55953200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr19:55952000-55953200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
33	chr19:55952000-55953600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
34	chr19:55952000-55953600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
35	chr19:55952000-55954000	Bivalent Enhancer	Fetal Brain Male	brain
36	chr19:55952000-55954600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr19:55952000-55954800	Bivalent Enhancer	Fetal Stomach	stomach
38	chr19:55952000-55955200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
39	chr19:55952200-55952800	Bivalent Enhancer	Primary T cells from cord blood	blood
40	chr19:55952200-55952800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr19:55952200-55953200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:55952200-55953400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:55952200-55953400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
44	chr19:55952200-55953400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
45	chr19:55952200-55953400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr19:55952200-55953400	Bivalent Enhancer	Adipose Nuclei	Adipose
47	chr19:55952200-55953400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
48	chr19:55952200-55953600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
49	chr19:55952200-55953600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:55952200-55953600	Bivalent Enhancer	Esophagus	oesophagus

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