Variant report

Variant	nsv1037739
Chromosome Location	chr11:119592989-119630641
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1474)
CpG islands
(count:1953)
Chromatin interactive
region (count:40)
LncRNA
region (count:21)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1474 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:119600051-119600221	HepG2	liver:	n/a	n/a
2	ATF1	chr11:119609204-119609223	K562	blood:	n/a	n/a
3	ATF1	chr11:119629522-119629693	K562	blood:	n/a	n/a
4	ATF2	chr11:119597259-119597707	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr11:119622338-119622777	GM12878	blood:	n/a	n/a
6	ATF2	chr11:119597217-119597639	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr11:119622284-119622888	GM12878	blood:	n/a	n/a
8	ATF2	chr11:119599846-119600105	GM12878	blood:	n/a	chr11:119599947-119599961
9	ATF3	chr11:119630141-119630419	K562	blood:	n/a	n/a
10	BACH1	chr11:119630139-119630306	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr11:119611950-119612612	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr11:119597125-119597527	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr11:119599960-119600558	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr11:119613227-119613381	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr11:119598253-119598534	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr11:119630089-119630395	GM12878	blood:	n/a	chr11:119630275-119630286
17	BATF	chr11:119624960-119625245	GM12878	blood:	n/a	n/a
18	BATF	chr11:119624861-119625252	GM12878	blood:	n/a	n/a
19	BATF	chr11:119630093-119630431	GM12878	blood:	n/a	chr11:119630275-119630286
20	BCL11A	chr11:119630029-119630401	GM12878	blood:	n/a	n/a
21	BCL11A	chr11:119622318-119622728	GM12878	blood:	n/a	chr11:119622436-119622445
22	BCL11A	chr11:119630087-119630373	GM12878	blood:	n/a	n/a
23	BCL3	chr11:119629795-119630418	GM12878	blood:	n/a	n/a
24	BCLAF1	chr11:119599682-119600369	GM12878	blood:	n/a	chr11:119599789-119599802 chr11:119599840-119599849 chr11:119599841-119599854 chr11:119599835-119599848 chr11:119600078-119600091 chr11:119600002-119600015
25	BHLHE40	chr11:119593045-119593301	GM12878	blood:	n/a	n/a
26	BHLHE40	chr11:119599078-119599083	GM12878	blood:	n/a	n/a
27	BHLHE40	chr11:119598579-119598839	GM12878	blood:	n/a	chr11:119598642-119598658
28	BHLHE40	chr11:119619094-119619305	K562	blood:	n/a	chr11:119619196-119619205 chr11:119619196-119619205
29	BHLHE40	chr11:119630003-119630543	GM12878	blood:	n/a	n/a
30	BHLHE40	chr11:119612150-119612229	K562	blood:	n/a	n/a
31	BHLHE40	chr11:119599815-119600370	HepG2	liver:	n/a	chr11:119600069-119600085 chr11:119599847-119599863
32	BHLHE40	chr11:119608429-119608743	HepG2	liver:	n/a	n/a
33	BHLHE40	chr11:119624926-119625077	GM12878	blood:	n/a	n/a
34	BHLHE40	chr11:119624090-119624467	GM12878	blood:	n/a	n/a
35	BHLHE40	chr11:119599364-119600490	GM12878	blood:	n/a	chr11:119600069-119600085 chr11:119599385-119599401 chr11:119599847-119599863
36	BHLHE40	chr11:119630138-119630348	K562	blood:	n/a	n/a
37	BHLHE40	chr11:119599872-119600308	K562	blood:	n/a	chr11:119600069-119600085
38	BHLHE40	chr11:119622396-119623450	GM12878	blood:	n/a	n/a
39	BRCA1	chr11:119593086-119593092	GM12878	blood:	n/a	n/a
40	CBX3	chr11:119612043-119612325	K562	blood:	n/a	n/a
41	CCNT2	chr11:119599650-119600370	K562	blood:	n/a	chr11:119599964-119599973
42	CEBPB	chr11:119599882-119599934	HepG2	liver:	n/a	n/a
43	CEBPB	chr11:119629102-119629390	IMR90	lung:	n/a	n/a
44	CEBPB	chr11:119609540-119609723	A549	lung:	n/a	chr11:119609690-119609701
45	CEBPB	chr11:119613505-119613626	Hela-S3	cervix:	n/a	chr11:119613563-119613576
46	CEBPB	chr11:119609510-119609876	HepG2	liver:	n/a	chr11:119609690-119609701
47	CEBPB	chr11:119613407-119613723	H1-hESC	embryonic stem cell:	n/a	chr11:119613563-119613576
48	CEBPB	chr11:119599828-119600079	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr11:119596914-119597093	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr11:119620654-119620820	K562	blood:	n/a	chr11:119620672-119620685

(count:1953 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:119613308-119613358	GM12878	blood:	n/a
2	chr11:119613308-119613358	GM12878	blood:	n/a
3	chr11:119613693-119613743	H1-hESC	embryonic stem cell:	embryo
4	chr11:119593593-119593643	SK-N-SH_RA	brain:	n/a
5	chr11:119612092-119612142	LNCaP	prostate:	n/a
6	chr11:119599620-119599670	HCM	heart:	n/a
7	chr11:119630144-119630194	AG10803	skin:	n/a
8	chr11:119600090-119600140	K562	blood:	n/a
9	chr11:119613061-119613111	A549	lung:	n/a
10	chr11:119613405-119613455	AG04449	skin:	fetal
11	chr11:119630362-119630412	BJ	skin:	n/a
12	chr11:119612342-119612392	BE2_C	brain:	n/a
13	chr11:119613405-119613455	Hepatocyte	liver:	n/a
14	chr11:119630362-119630412	GM19239	blood:	n/a
15	chr11:119599427-119599477	IMR90	lung:	fetal
16	chr11:119612092-119612142	GM19239	blood:	n/a
17	chr11:119613693-119613743	PFSK-1	brain:	n/a
18	chr11:119622531-119622581	GM12878	blood:	n/a
19	chr11:119598497-119598547	AG10803	skin:	n/a
20	chr11:119612342-119612392	HCT-116	colon:	n/a
21	chr11:119613061-119613111	HRPEpiC	eye:	n/a
22	chr11:119596104-119596154	ProgFib	skin:	n/a
23	chr11:119598257-119598307	LNCaP	prostate:	n/a
24	chr11:119625793-119625843	SKMC	muscle:	n/a
25	chr11:119597471-119597521	HRPEpiC	eye:	n/a
26	chr11:119611809-119611859	CMK	blood:	n/a
27	chr11:119612475-119612525	HL-60	blood:	n/a
28	chr11:119613061-119613111	BJ	skin:	n/a
29	chr11:119599427-119599477	BJ	skin:	n/a
30	chr11:119609303-119609353	PANC-1	pancreas:	n/a
31	chr11:119622531-119622581	GM12892	blood:	n/a
32	chr11:119612092-119612142	NHBE	bronchial:	n/a
33	chr11:119600292-119600342	U87	brain:	n/a
34	chr11:119598257-119598307	HEK293	kidney:	embryo
35	chr11:119599617-119599667	SAEC	small airway:	n/a
36	chr11:119602634-119602684	GM19239	blood:	n/a
37	chr11:119630144-119630194	PFSK-1	brain:	n/a
38	chr11:119599427-119599477	AG10803	skin:	n/a
39	chr11:119613693-119613743	HEEpiC	esophagus:	n/a
40	chr11:119598257-119598307	HMEC	breast:	n/a
41	chr11:119600292-119600342	AG09319	gingival:	n/a
42	chr11:119612092-119612142	SK-N-SH_RA	brain:	n/a
43	chr11:119630362-119630412	SK-N-SH	brain:	n/a
44	chr11:119599622-119599672	PrEC	prostate:	n/a
45	chr11:119613308-119613358	HIPEpiC	eye:	n/a
46	chr11:119613957-119614007	IMR90	lung:	fetal
47	chr11:119599617-119599667	U87	brain:	n/a
48	chr11:119600292-119600342	MCF-7	breast:	n/a
49	chr11:119612475-119612525	SKMC	muscle:	n/a
50	chr11:119630362-119630412	U87	brain:	n/a

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:119610859..119613381-chr11:119617021..119619803,2	K562	blood:
2	chr11:119586554..119590249-chr11:119604143..119607234,3	K562	blood:
3	chr11:119599940..119602278-chr11:119603563..119606152,2	K562	blood:
4	chr11:119610859..119613381-chr11:119617021..119619803,2	K562	blood:
5	chr11:119537222..119537812-chr11:119598187..119599149,2	MCF-7	breast:
6	chr11:119565895..119567556-chr11:119593844..119596406,2	MCF-7	breast:
7	chr11:119622707..119625019-chr11:119625519..119627831,2	K562	blood:
8	chr11:119621036..119623872-chr11:119625364..119628565,3	MCF-7	breast:
9	chr11:119611511..119614247-chr11:119631604..119633429,2	MCF-7	breast:
10	chr11:119591659..119592433-chr11:119611738..119612581,2	MCF-7	breast:
11	chr11:119564818..119565650-chr11:119598208..119598847,2	MCF-7	breast:
12	chr11:119600585..119602314-chr11:119925639..119927228,2	MCF-7	breast:
13	chr11:119612041..119612599-chr11:119978926..119979560,2	MCF-7	breast:
14	chr11:119582343..119585155-chr11:119589653..119593219,3	MCF-7	breast:
15	chr11:119621036..119623872-chr11:119625364..119628565,3	MCF-7	breast:
16	chr11:119616914..119619843-chr11:119625598..119627418,2	K562	blood:
17	chr11:119617140..119619189-chr11:119629474..119631387,2	MCF-7	breast:
18	chr11:119557449..119558968-chr11:119599043..119600568,2	MCF-7	breast:
19	chr11:119542138..119544074-chr11:119592061..119594692,2	MCF-7	breast:
20	chr11:119593045..119595193-chr11:119597284..119598893,2	K562	blood:
21	chr11:119610610..119612359-chr11:119615622..119618521,2	K562	blood:
22	chr11:119598556..119602502-chr11:119605282..119610930,5	MCF-7	breast:
23	chr11:119590103..119594091-chr11:119595863..119600251,5	MCF-7	breast:
24	chr11:119598003..119600775-chr11:119602498..119604454,2	MCF-7	breast:
25	chr11:119600071..119603672-chr11:119605358..119609568,4	MCF-7	breast:
26	chr11:119616914..119619843-chr11:119625598..119627418,2	K562	blood:
27	chr11:119598280..119601010-chr11:119990751..119994590,4	MCF-7	breast:
28	chr11:119622707..119625019-chr11:119625519..119627831,2	K562	blood:
29	chr11:119617140..119619189-chr11:119629474..119631387,2	MCF-7	breast:
30	chr11:119593045..119595193-chr11:119597284..119598893,2	K562	blood:
31	chr11:119537219..119537738-chr11:119611684..119612227,2	K562	blood:
32	chr11:119622344..119624091-chr11:119630061..119631916,2	K562	blood:
33	chr11:119622344..119624091-chr11:119630061..119631916,2	K562	blood:
34	chr11:119599752..119600308-chr21:34914463..34915203,2	NB4	blood:
35	chr11:119536864..119537801-chr11:119611746..119612718,4	MCF-7	breast:
36	chr11:119540900..119542857-chr11:119592650..119594796,2	MCF-7	breast:
37	chr11:119581664..119584119-chr11:119591435..119593140,2	MCF-7	breast:
38	chr11:119596678..119598244-chr11:120080691..120083060,2	K562	blood:
39	chr11:119610610..119612359-chr11:119615622..119618521,2	K562	blood:
40	chr11:119612432..119615293-chr2:70313000..70315605,2	K562	blood:

(count:21 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2523D13.1.1-1	chr11:119604367-119604460	XLOC_009299
2	lnc-CTD-2523D13.1.1-1	chr11:119607517-119607592	XLOC_009299
3	lnc-CTD-2523D13.1.1-1	chr11:119604367-119604460	XLOC_009299
4	lnc-CTD-2523D13.1.1-1	chr11:119607517-119607628	XLOC_009299
5	lnc-CTD-2523D13.1.1-1	chr11:119617023-119617416	NONHSAT024688
6	lnc-PVRL1-3	chr11:119630031-119630093	ucscGeneNc_uc001pxd_1
7	lnc-CTD-2523D13.1.1-1	chr11:119600281-119600516	XLOC_009299
8	lnc-PVRL1-3	chr11:119629503-119629573	ucscGeneNc_uc001pxd_1
9	lnc-CTD-2523D13.1.1-1	chr11:119610241-119610354	XLOC_009299
10	lnc-CTD-2523D13.1.1-1	chr11:119602991-119609426	FPKM1_group_5475_transcript_3
11	lnc-CTD-2523D13.1.1-1	chr11:119607517-119607628	NONHSAT024688
12	lnc-CTD-2523D13.1.1-1	chr11:119604367-119605353	XLOC_009299
13	lnc-CTD-2523D13.1.1-1	chr11:119610085-119610579	FPKM1_group_5475_transcript_3
14	lnc-PVRL1-3	chr11:119625678-119626324	ucscGeneNc_uc001pxd_1
15	lnc-CTD-2523D13.1.1-1	chr11:119600361-119600563	XLOC_009299
16	lnc-CTD-2523D13.1.1-1	chr11:119600510-119600516	XLOC_009299
17	lnc-CTD-2523D13.1.1-1	chr11:119607517-119607551	XLOC_009299
18	lnc-CTD-2523D13.1.1-1	chr11:119600356-119600563	XLOC_009299
19	lnc-CTD-2523D13.1.1-1	chr11:119604367-119604456	XLOC_009299
20	lnc-CTD-2523D13.1.1-1	chr11:119600109-119600184	XLOC_009299
21	lnc-CTD-2523D13.1.1-1	chr11:119610241-119610498	NONHSAT024688

No data

Variant related genes	Relation type
PVRL1	TF binding region
ENSG00000254854	TF binding region
PVRL1	CpG island
ENSG00000254854	CpG island
ENSG00000137699	chromatin interactions
ENSG00000184232	chromatin interactions
ENSG00000110400	chromatin interactions
ENSG00000179818	chromatin interactions
ENSG00000254854	chromatin interactions
ENSG00000159131	chromatin interactions
ENSG00000159140	chromatin interactions
ENSG00000169564	chromatin interactions
SWAP70	miRNA target sites
SUV420H2	miRNA target sites
DICER1	miRNA target sites
SUZ12	miRNA target sites

Extended variants
information (count: 1448 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:1448 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11217428	chr11:119592989-119592990	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs565391577	chr11:119592994-119592995	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs574716623	chr11:119593073-119593074	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs544706091	chr11:119593085-119593086	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs540376003	chr11:119593108-119593109	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs562902284	chr11:119593111-119593112	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs189983855	chr11:119593183-119593184	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs369561614	chr11:119593218-119593219	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs548622617	chr11:119593248-119593249	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181154568	chr11:119593299-119593300	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs527889040	chr11:119593303-119593304	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs552691536	chr11:119593338-119593339	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs60972598	chr11:119593353-119593354	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs570707440	chr11:119593366-119593367	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs77399766	chr11:119593376-119593377	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564854900	chr11:119593390-119593391	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs140858613	chr11:119593391-119593392	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs568542900	chr11:119593395-119593396	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs543655922	chr11:119593422-119593423	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536218212	chr11:119593433-119593434	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs11604214	chr11:119593446-119593447	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11600071	chr11:119593452-119593453	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs530459644	chr11:119593459-119593460	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186184106	chr11:119593494-119593495	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577093805	chr11:119593495-119593496	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs544743069	chr11:119593497-119593498	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs562940954	chr11:119593502-119593503	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs78402562	chr11:119593512-119593513	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs530002952	chr11:119593514-119593515	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs542166197	chr11:119593517-119593518	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs560625166	chr11:119593586-119593587	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs76615225	chr11:119593599-119593600	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs552443261	chr11:119593676-119593677	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs564374517	chr11:119593739-119593740	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs531768616	chr11:119593754-119593755	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs190459209	chr11:119593755-119593756	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs113587043	chr11:119593779-119593780	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs568579992	chr11:119593820-119593821	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs181955744	chr11:119593821-119593822	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs527777014	chr11:119593913-119593914	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs146149150	chr11:119593914-119593915	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs61373566	chr11:119593927-119593928	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs566332838	chr11:119593985-119593986	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs11217429	chr11:119594057-119594058	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs138336758	chr11:119594075-119594076	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs577131543	chr11:119594132-119594133	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs570496601	chr11:119594163-119594164	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs537816026	chr11:119594164-119594165	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs556699552	chr11:119594233-119594234	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs574836161	chr11:119594239-119594240	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Emanuel syndrome	21549014	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Ovarian neoplasms	16753589	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Retinoblastoma	22278416	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Squamous cell cancer	20885788	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Neurocytoma	17123091	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Central neurocytomas	17123091	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Acute myeloid leukemia	19651601	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	20409316	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	17142309	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ductal carcinoma	22052326	CNVD

Chromatin state (count:1518 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119574000-119597200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:119580800-119597000	Weak transcription	Lung	lung
3	chr11:119582200-119593600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:119585200-119596600	Weak transcription	Primary B cells from cord blood	blood
5	chr11:119586200-119595200	Genic enhancers	Esophagus	oesophagus
6	chr11:119586400-119597600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:119588400-119596800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:119588600-119597400	Weak transcription	NH-A	brain
9	chr11:119589000-119594800	Weak transcription	Brain Germinal Matrix	brain
10	chr11:119589200-119594600	Weak transcription	Fetal Brain Male	brain
11	chr11:119589200-119596800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:119589600-119595600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:119589600-119597400	Weak transcription	Liver	Liver
14	chr11:119590200-119595000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:119590600-119593600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:119590600-119593600	Enhancers	Fetal Thymus	thymus
17	chr11:119590600-119593800	Enhancers	Brain Cingulate Gyrus	brain
18	chr11:119590600-119594000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:119591200-119593000	Enhancers	NHDF-Ad	bronchial
20	chr11:119591200-119593200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:119591200-119593200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:119591200-119593600	Enhancers	Stomach Mucosa	stomach
23	chr11:119591200-119594200	Weak transcription	Fetal Brain Female	brain
24	chr11:119591200-119595200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr11:119591200-119595200	Enhancers	Pancreas	Pancrea
26	chr11:119591200-119596400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr11:119591200-119596600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr11:119591400-119593200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr11:119591400-119594200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr11:119591400-119595200	Enhancers	Duodenum Mucosa	Duodenum
31	chr11:119591400-119595200	Enhancers	Fetal Muscle Leg	muscle
32	chr11:119591400-119595400	Enhancers	Brain Hippocampus Middle	brain
33	chr11:119591400-119596000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr11:119591400-119596800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:119591400-119597400	Weak transcription	Right Ventricle	heart
36	chr11:119591600-119593000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:119591600-119593600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:119591600-119593800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr11:119591600-119593800	Enhancers	Brain Substantia Nigra	brain
40	chr11:119591600-119595000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr11:119591600-119596000	Enhancers	Brain Angular Gyrus	brain
42	chr11:119591600-119597200	Genic enhancers	Fetal Intestine Small	intestine
43	chr11:119591800-119593000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:119591800-119593400	Enhancers	Placenta	Placenta
45	chr11:119591800-119593600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:119591800-119596800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:119591800-119597000	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr11:119592000-119593000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr11:119592000-119593200	Enhancers	HUVEC	blood vessel
50	chr11:119592000-119593400	Enhancers	Brain Anterior Caudate	brain

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