Variant report

Variant	nsv1007925
Chromosome Location	chr2:178535922-178577002
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:542)
CpG islands
(count:61)
Chromatin interactive
region (count:36)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:178547733-178547776	K562	blood:	n/a	n/a
2	ARID3A	chr2:178558288-178559366	K562	blood:	n/a	n/a
3	ARID3A	chr2:178548061-178548261	K562	blood:	n/a	n/a
4	ARID3A	chr2:178547107-178547190	K562	blood:	n/a	n/a
5	ARID3A	chr2:178554400-178554623	K562	blood:	n/a	n/a
6	ARID3A	chr2:178556633-178557685	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:178545962-178546169	K562	blood:	n/a	n/a
8	ARID3A	chr2:178557491-178557668	K562	blood:	n/a	n/a
9	ARID3A	chr2:178544614-178545268	K562	blood:	n/a	n/a
10	ATF1	chr2:178558560-178559091	K562	blood:	n/a	n/a
11	ATF1	chr2:178554407-178554764	K562	blood:	n/a	n/a
12	ATF2	chr2:178535601-178536035	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr2:178535607-178535979	GM12878	blood:	n/a	n/a
14	ATF2	chr2:178535367-178536047	GM12878	blood:	n/a	n/a
15	ATF3	chr2:178558359-178559087	K562	blood:	n/a	n/a
16	BACH1	chr2:178546276-178546278	K562	blood:	n/a	n/a
17	BHLHE40	chr2:178557739-178557741	K562	blood:	n/a	n/a
18	BHLHE40	chr2:178544674-178545243	K562	blood:	n/a	n/a
19	BHLHE40	chr2:178548418-178548511	K562	blood:	n/a	n/a
20	BHLHE40	chr2:178558039-178559104	K562	blood:	n/a	n/a
21	BHLHE40	chr2:178547831-178548018	K562	blood:	n/a	n/a
22	BHLHE40	chr2:178554454-178554631	K562	blood:	n/a	n/a
23	CCNT2	chr2:178547689-178547927	K562	blood:	n/a	n/a
24	CCNT2	chr2:178544654-178545350	K562	blood:	n/a	chr2:178545114-178545134
25	CCNT2	chr2:178554360-178554689	K562	blood:	n/a	n/a
26	CCNT2	chr2:178558442-178559135	K562	blood:	n/a	chr2:178558864-178558884
27	CEBPB	chr2:178557240-178557599	HepG2	liver:	n/a	chr2:178557583-178557595
28	CEBPB	chr2:178558399-178559087	K562	blood:	n/a	chr2:178558576-178558587
29	CEBPB	chr2:178549634-178549761	K562	blood:	n/a	chr2:178549681-178549692
30	CEBPB	chr2:178551012-178551128	IMR90	lung:	n/a	chr2:178551070-178551081
31	CEBPB	chr2:178558415-178558716	HepG2	liver:	n/a	chr2:178558576-178558587
32	CEBPB	chr2:178557275-178557602	A549	lung:	n/a	chr2:178557583-178557595
33	CEBPB	chr2:178558425-178559027	K562	blood:	n/a	chr2:178558576-178558587
34	CEBPB	chr2:178558569-178558614	H1-hESC	embryonic stem cell:	n/a	chr2:178558576-178558587
35	CEBPB	chr2:178557263-178557501	HepG2	liver:	n/a	n/a
36	CEBPB	chr2:178550913-178551154	K562	blood:	n/a	chr2:178551070-178551081
37	CEBPB	chr2:178550933-178551144	A549	lung:	n/a	chr2:178551070-178551081
38	CEBPB	chr2:178550933-178551169	HepG2	liver:	n/a	chr2:178551070-178551081
39	CEBPB	chr2:178549557-178549765	HepG2	liver:	n/a	chr2:178549681-178549692
40	CEBPB	chr2:178569543-178569609	HepG2	liver:	n/a	chr2:178569565-178569576
41	CEBPB	chr2:178550983-178551107	H1-hESC	embryonic stem cell:	n/a	chr2:178551070-178551081
42	CEBPB	chr2:178558429-178558729	A549	lung:	n/a	chr2:178558576-178558587
43	CEBPB	chr2:178557271-178557521	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr2:178557191-178557717	A549	lung:	n/a	chr2:178557583-178557595
45	CEBPB	chr2:178558315-178559143	K562	blood:	n/a	chr2:178558576-178558587
46	CEBPB	chr2:178558416-178558685	IMR90	lung:	n/a	chr2:178558576-178558587
47	CEBPD	chr2:178558470-178559144	K562	blood:	n/a	n/a
48	CEBPD	chr2:178558362-178559103	K562	blood:	n/a	n/a
49	CTCF	chr2:178540326-178540576	GM12878	blood:	n/a	chr2:178540460-178540469
50	CTCF	chr2:178539060-178539210	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:178556488-178556538	GM12878	blood:	n/a
2	chr2:178556488-178556538	Caco-2	colon:	n/a
3	chr2:178556488-178556538	U87	brain:	n/a
4	chr2:178556488-178556538	CMK	blood:	n/a
5	chr2:178556488-178556538	SKMC	muscle:	n/a
6	chr2:178556488-178556538	BE2_C	brain:	n/a
7	chr2:178556488-178556538	HEK293	kidney:	embryo
8	chr2:178556488-178556538	LNCaP	prostate:	n/a
9	chr2:178556488-178556538	AoSMC	blood vessel:	n/a
10	chr2:178556488-178556538	HCF	heart:	n/a
11	chr2:178556488-178556538	Hela-S3	cervix:	n/a
12	chr2:178556488-178556538	K562	blood:	n/a
13	chr2:178556488-178556538	MCF-7	breast:	n/a
14	chr2:178556488-178556538	HRPEpiC	eye:	n/a
15	chr2:178556488-178556538	H1-hESC	embryonic stem cell:	embryo
16	chr2:178556488-178556538	ECC-1	luminal epithelium:	n/a
17	chr2:178556488-178556538	PFSK-1	brain:	n/a
18	chr2:178556488-178556538	HNPCEpiC	eye:	n/a
19	chr2:178556488-178556538	ovcar-3	ovarian:	n/a
20	chr2:178556488-178556538	NB4	blood:	n/a
21	chr2:178556488-178556538	NHDF-neo	bronchial:	n/a
22	chr2:178556488-178556538	GM12891	blood:	n/a
23	chr2:178556488-178556538	HCM	heart:	n/a
24	chr2:178556488-178556538	A549	lung:	n/a
25	chr2:178556488-178556538	PrEC	prostate:	n/a
26	chr2:178556488-178556538	Hepatocyte	liver:	n/a
27	chr2:178556488-178556538	AG10803	skin:	n/a
28	chr2:178556488-178556538	ProgFib	skin:	n/a
29	chr2:178556488-178556538	HCT-116	colon:	n/a
30	chr2:178556488-178556538	HL-60	blood:	n/a
31	chr2:178556488-178556538	T-47D	breast:	n/a
32	chr2:178556488-178556538	HRCEpiC	kidney:	n/a
33	chr2:178556488-178556538	AG04450	lung:	fetal
34	chr2:178556488-178556538	RPTEC	kidney:	n/a
35	chr2:178556488-178556538	SK-N-MC	brain:	n/a
36	chr2:178556488-178556538	HCPEpiC	choroid plexus:	n/a
37	chr2:178556488-178556538	NHBE	bronchial:	n/a
38	chr2:178556488-178556538	NT2-D1	testis:	n/a
39	chr2:178556488-178556538	BJ	skin:	n/a
40	chr2:178556488-178556538	IMR90	lung:	fetal
41	chr2:178556488-178556538	HEEpiC	esophagus:	n/a
42	chr2:178556488-178556538	GM06990	blood:	n/a
43	chr2:178556488-178556538	MCF10A-Er-Src	breast:	n/a
44	chr2:178556488-178556538	Jurkat	blood:	n/a
45	chr2:178556488-178556538	PANC-1	pancreas:	n/a
46	chr2:178556488-178556538	HRE	kidney:	n/a
47	chr2:178556488-178556538	GM12892	blood:	n/a
48	chr2:178556488-178556538	SK-N-SH_RA	brain:	n/a
49	chr2:178556488-178556538	HepG2	liver:	n/a
50	chr2:178556488-178556538	HAEpiC	amniotic membrane:	n/a

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178573812..178575590-chr2:178578150..178581099,2	K562	blood:
2	chr2:178554622..178556769-chr2:178559553..178561777,2	K562	blood:
3	chr2:178570926..178572812-chr2:178573756..178576490,2	K562	blood:
4	chr2:178561207..178563093-chr2:178570078..178571660,2	MCF-7	breast:
5	chr2:178567581..178570235-chr2:178573899..178577717,4	K562	blood:
6	chr2:178554622..178556769-chr2:178559553..178561777,2	K562	blood:
7	chr2:178561207..178563093-chr2:178570078..178571660,2	MCF-7	breast:
8	chr2:178416053..178418708-chr2:178570239..178572777,3	MCF-7	breast:
9	chr2:178562301..178565158-chr2:178568749..178571184,2	K562	blood:
10	chr2:178559293..178562880-chr2:178620510..178622541,4	K562	blood:
11	chr2:178553724..178556122-chr2:178557669..178561053,4	K562	blood:
12	chr2:178557827..178560384-chr2:178566181..178567818,2	K562	blood:
13	chr2:178570926..178572812-chr2:178573756..178576490,2	K562	blood:
14	chr2:178454525..178456445-chr2:178573217..178575511,2	K562	blood:
15	chr2:178556581..178559111-chr2:178571009..178573713,2	K562	blood:
16	chr2:178536377..178538004-chr2:178556463..178558808,2	K562	blood:
17	chr2:178568725..178571101-chr2:178581270..178584257,2	K562	blood:
18	chr2:178553724..178556122-chr2:178557669..178561053,4	K562	blood:
19	chr2:178561119..178564111-chr2:178566483..178568629,4	K562	blood:
20	chr1:67678579..67680079-chr2:178536885..178539298,2	MCF-7	breast:
21	chr2:178563706..178566606-chr2:178575234..178578088,2	K562	blood:
22	chr2:178128784..178131655-chr2:178537635..178540049,2	K562	blood:
23	chr2:178533626..178535228-chr2:178535564..178538374,2	K562	blood:
24	chr2:178563706..178566606-chr2:178575234..178578088,2	K562	blood:
25	chr2:178557613..178559704-chr2:178561778..178563487,2	K562	blood:
26	chr2:178562301..178564741-chr2:178568694..178570249,2	K562	blood:
27	chr2:178128784..178131655-chr2:178537635..178541213,3	K562	blood:
28	chr2:178257363..178259725-chr2:178564767..178567324,2	K562	blood:
29	chr2:178561612..178563811-chr2:178565917..178568583,4	K562	blood:
30	chr2:178567581..178570235-chr2:178573899..178577717,4	K562	blood:
31	chr2:178560703..178563309-chr2:178574867..178577003,2	K562	blood:
32	chr2:178557827..178560384-chr2:178566181..178567818,2	K562	blood:
33	chr2:178540518..178542600-chr2:178544661..178547619,2	MCF-7	breast:
34	chr2:178536377..178538004-chr2:178556463..178558808,2	K562	blood:
35	chr2:178556581..178559111-chr2:178571009..178573713,2	K562	blood:
36	chr2:178546208..178548509-chr2:178552748..178555951,3	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AGPS-3	chr2:178565822-178565956	ENSG00000229941.1
2	lnc-AGPS-3	chr2:178563218-178563299	ENSG00000229941.1
3	lnc-AGPS-3	chr2:178567216-178567477	ENSG00000229941.1
4	lnc-AGPS-3	chr2:178567216-178567477	ENSG00000229941.1
5	lnc-AGPS-3	chr2:178563157-178563299	ENSG00000229941.1

No data

Variant related genes	Relation type
ENSG00000229941	TF binding region
PDE11A	TF binding region
ENSG00000229941	CpG island
PDE11A	CpG island
ENSG00000196659	chromatin interactions
ENSG00000018510	chromatin interactions
ENSG00000128655	chromatin interactions
ENSG00000213963	chromatin interactions
ENSG00000229941	chromatin interactions
ENSG00000222043	chromatin interactions
ENSG00000116044	chromatin interactions

Extended variants
information (count: 1596 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1596 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3770008	chr2:178535922-178535923	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191676448	chr2:178535938-178535939	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561066132	chr2:178535957-178535958	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530265484	chr2:178535958-178535959	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554348234	chr2:178535965-178535966	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113425987	chr2:178536001-178536002	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201166789	chr2:178536004-178536005	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201069560	chr2:178536006-178536007	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536362113	chr2:178536025-178536026	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540477991	chr2:178536031-178536032	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535607604	chr2:178536057-178536058	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372398173	chr2:178536099-178536100	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184141407	chr2:178536145-178536146	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10165396	chr2:178536163-178536164	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs12618150	chr2:178536201-178536202	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs141724741	chr2:178536233-178536234	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550668721	chr2:178536237-178536238	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567373425	chr2:178536242-178536243	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79339123	chr2:178536302-178536303	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544587893	chr2:178536309-178536310	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs55717121	chr2:178536321-178536322	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552937685	chr2:178536322-178536323	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147185729	chr2:178536354-178536355	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538589046	chr2:178536362-178536363	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558441189	chr2:178536367-178536368	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558462156	chr2:178536390-178536391	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575204820	chr2:178536397-178536398	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572004447	chr2:178536399-178536400	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544096812	chr2:178536414-178536415	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540919653	chr2:178536422-178536423	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544201201	chr2:178536465-178536466	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188097881	chr2:178536471-178536472	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72362843	chr2:178536476-178536477	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377653113	chr2:178536483-178536484	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574878113	chr2:178536504-178536505	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543138719	chr2:178536505-178536506	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376931277	chr2:178536520-178536521	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs3770009	chr2:178536544-178536545	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs560552830	chr2:178536548-178536549	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4893979	chr2:178536633-178536634	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs12994392	chr2:178536640-178536641	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs11896144	chr2:178536644-178536645	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs530472425	chr2:178536679-178536680	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550606836	chr2:178536680-178536681	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528001147	chr2:178536703-178536704	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567350523	chr2:178536782-178536783	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12612481	chr2:178536783-178536784	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs546758503	chr2:178536796-178536797	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191401938	chr2:178536826-178536827	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566514479	chr2:178536837-178536838	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178531400-178540000	Weak transcription	K562	blood
2	chr2:178532800-178537000	Enhancers	Fetal Kidney	kidney
3	chr2:178532800-178538000	Weak transcription	HSMM	muscle
4	chr2:178533800-178536600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
5	chr2:178533800-178536600	Enhancers	Dnd41	blood
6	chr2:178534000-178537200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:178534200-178537000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:178534400-178537400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr2:178534800-178536000	Enhancers	Psoas Muscle	Psoas
10	chr2:178534800-178536200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:178534800-178536200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:178534800-178537000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:178534800-178537000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:178534800-178537200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
15	chr2:178535000-178536000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr2:178535000-178544800	Weak transcription	Right Atrium	heart
17	chr2:178535200-178536200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
18	chr2:178535200-178536800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
19	chr2:178535400-178536200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:178535400-178536200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:178535400-178540000	Weak transcription	Liver	Liver
22	chr2:178535600-178536000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
23	chr2:178535600-178536000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
24	chr2:178535600-178536000	Enhancers	Brain Substantia Nigra	brain
25	chr2:178535600-178536200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr2:178535600-178536600	Enhancers	Fetal Muscle Leg	muscle
27	chr2:178535600-178536800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:178535600-178537000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:178535800-178536000	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
30	chr2:178535800-178536000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
31	chr2:178535800-178536200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:178535800-178536200	Enhancers	GM12878-XiMat	blood
33	chr2:178535800-178537000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:178536000-178536600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr2:178536000-178536600	Enhancers	Fetal Stomach	stomach
36	chr2:178536000-178537200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr2:178536000-178540000	Weak transcription	Brain Substantia Nigra	brain
38	chr2:178536000-178540000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:178536000-178544600	Weak transcription	Psoas Muscle	Psoas
40	chr2:178536200-178536600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
41	chr2:178536200-178537200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:178536200-178540200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:178536200-178540200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:178536600-178536800	Enhancers	Left Ventricle	heart
45	chr2:178536600-178537000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
46	chr2:178536600-178540400	Weak transcription	Fetal Stomach	stomach
47	chr2:178536600-178556000	Weak transcription	Pancreas	Pancrea
48	chr2:178536800-178537000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
49	chr2:178537000-178537200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr2:178537000-178537400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links