Variant report

Variant	nsv2685
Chromosome Location	chr2:37550096-37594923
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1076)
CpG islands
(count:1527)
Chromatin interactive
region (count:30)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1076 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:37577106-37577517	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:37561527-37561617	K562	blood:	n/a	n/a
3	ARID3A	chr2:37552193-37552391	HepG2	liver:	n/a	n/a
4	ATF1	chr2:37570916-37571082	K562	blood:	n/a	n/a
5	ATF3	chr2:37551727-37551962	K562	blood:	n/a	n/a
6	BACH1	chr2:37552372-37552375	K562	blood:	n/a	n/a
7	BACH1	chr2:37552113-37552380	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr2:37592807-37593161	GM12878	blood:	n/a	n/a
9	BATF	chr2:37592776-37593211	GM12878	blood:	n/a	n/a
10	BCL11A	chr2:37592868-37593224	GM12878	blood:	n/a	n/a
11	BCL3	chr2:37551713-37552769	A549	lung:	n/a	chr2:37551761-37551774 chr2:37551765-37551774 chr2:37551768-37551777 chr2:37551759-37551768 chr2:37551760-37551773 chr2:37551763-37551776 chr2:37552068-37552081 chr2:37551762-37551771 chr2:37552069-37552078 chr2:37552050-37552063 chr2:37552030-37552038 chr2:37551722-37551731
12	BCLAF1	chr2:37550883-37551637	GM12878	blood:	n/a	chr2:37551555-37551564 chr2:37551550-37551563
13	BHLHE40	chr2:37551758-37551934	K562	blood:	n/a	chr2:37551761-37551777 chr2:37551760-37551776
14	BHLHE40	chr2:37551113-37551295	GM12878	blood:	n/a	n/a
15	BHLHE40	chr2:37592882-37593246	GM12878	blood:	n/a	n/a
16	BHLHE40	chr2:37552148-37552423	K562	blood:	n/a	n/a
17	BHLHE40	chr2:37554752-37554772	K562	blood:	n/a	n/a
18	BHLHE40	chr2:37551791-37551950	GM12878	blood:	n/a	n/a
19	BRCA1	chr2:37551858-37551927	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr2:37551875-37551926	HepG2	liver:	n/a	n/a
21	BRCA1	chr2:37550729-37551313	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr2:37570122-37570131	HepG2	liver:	n/a	n/a
23	CBX3	chr2:37551638-37552763	K562	blood:	n/a	n/a
24	CCNT2	chr2:37551372-37552591	K562	blood:	n/a	chr2:37551712-37551721 chr2:37551691-37551700
25	CEBPB	chr2:37577301-37577582	A549	lung:	n/a	n/a
26	CEBPB	chr2:37559589-37560245	MCF-7	breast:	n/a	chr2:37559898-37559909
27	CEBPB	chr2:37553429-37553765	IMR90	lung:	n/a	n/a
28	CEBPB	chr2:37573002-37573225	A549	lung:	n/a	chr2:37573082-37573093
29	CEBPB	chr2:37565077-37565391	A549	lung:	n/a	chr2:37565240-37565251
30	CEBPB	chr2:37565076-37565417	HepG2	liver:	n/a	chr2:37565240-37565251
31	CEBPB	chr2:37559642-37560160	A549	lung:	n/a	chr2:37559898-37559909
32	CEBPB	chr2:37553472-37553689	A549	lung:	n/a	n/a
33	CEBPB	chr2:37559714-37560095	Hela-S3	cervix:	n/a	chr2:37559898-37559909
34	CEBPB	chr2:37577238-37577571	HepG2	liver:	n/a	n/a
35	CEBPB	chr2:37559651-37560168	ECC-1	luminal epithelium:	n/a	chr2:37559898-37559909
36	CEBPB	chr2:37559780-37560032	HepG2	liver:	n/a	chr2:37559898-37559909
37	CEBPB	chr2:37559572-37560171	HCT-116	colon:	n/a	chr2:37559898-37559909
38	CEBPB	chr2:37565085-37565411	K562	blood:	n/a	chr2:37565240-37565251
39	CEBPB	chr2:37578137-37578316	HepG2	liver:	n/a	chr2:37578228-37578239 chr2:37578229-37578240 chr2:37578228-37578239
40	CEBPB	chr2:37559717-37560096	IMR90	lung:	n/a	chr2:37559898-37559909
41	CEBPB	chr2:37565076-37565392	K562	blood:	n/a	chr2:37565240-37565251
42	CEBPB	chr2:37578058-37578406	HepG2	liver:	n/a	chr2:37578228-37578239 chr2:37578229-37578240 chr2:37578228-37578239
43	CEBPB	chr2:37559694-37560178	K562	blood:	n/a	chr2:37559898-37559909
44	CEBPB	chr2:37559639-37560046	HepG2	liver:	n/a	chr2:37559898-37559909
45	CEBPB	chr2:37559779-37560026	K562	blood:	n/a	chr2:37559898-37559909
46	CEBPB	chr2:37559638-37560116	MCF-7	breast:	n/a	chr2:37559898-37559909
47	CEBPB	chr2:37586344-37586493	A549	lung:	n/a	n/a
48	CEBPB	chr2:37559717-37560094	H1-hESC	embryonic stem cell:	n/a	chr2:37559898-37559909
49	CEBPB	chr2:37578575-37578865	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr2:37594494-37594757	IMR90	lung:	n/a	n/a

(count:1527 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:37571401-37571451	K562	blood:	n/a
2	chr2:37571901-37571951	HCPEpiC	choroid plexus:	n/a
3	chr2:37571401-37571451	K562	blood:	n/a
4	chr2:37571901-37571951	HCPEpiC	choroid plexus:	n/a
5	chr2:37594523-37594573	ovcar-3	ovarian:	n/a
6	chr2:37571696-37571746	T-47D	breast:	n/a
7	chr2:37571696-37571746	MCF10A-Er-Src	breast:	n/a
8	chr2:37551081-37551131	PFSK-1	brain:	n/a
9	chr2:37551081-37551131	A549	lung:	n/a
10	chr2:37570604-37570654	HRPEpiC	eye:	n/a
11	chr2:37551024-37551074	AoSMC	blood vessel:	n/a
12	chr2:37554747-37554797	HRPEpiC	eye:	n/a
13	chr2:37571696-37571746	HMEC	breast:	n/a
14	chr2:37551451-37551501	CMK	blood:	n/a
15	chr2:37551891-37551941	HCF	heart:	n/a
16	chr2:37571901-37571951	HepG2	liver:	n/a
17	chr2:37594523-37594573	AG10803	skin:	n/a
18	chr2:37572289-37572339	SK-N-MC	brain:	n/a
19	chr2:37554747-37554797	HAEpiC	amniotic membrane:	n/a
20	chr2:37576821-37576871	BE2_C	brain:	n/a
21	chr2:37572423-37572473	HUVEC	blood vessel:	n/a
22	chr2:37571901-37571951	AG09309	skin:	n/a
23	chr2:37553621-37553671	NHBE	bronchial:	n/a
24	chr2:37551081-37551131	GM12892	blood:	n/a
25	chr2:37594523-37594573	NHDF-neo	bronchial:	n/a
26	chr2:37572102-37572152	HEEpiC	esophagus:	n/a
27	chr2:37572289-37572339	AG04450	lung:	fetal
28	chr2:37594523-37594573	NT2-D1	testis:	n/a
29	chr2:37552545-37552595	HUVEC	blood vessel:	n/a
30	chr2:37572396-37572446	AoSMC	blood vessel:	n/a
31	chr2:37571687-37571737	H1-hESC	embryonic stem cell:	embryo
32	chr2:37594523-37594573	PANC-1	pancreas:	n/a
33	chr2:37551108-37551158	AG09319	gingival:	n/a
34	chr2:37571687-37571737	Hepatocyte	liver:	n/a
35	chr2:37552545-37552595	HNPCEpiC	eye:	n/a
36	chr2:37572423-37572473	AoSMC	blood vessel:	n/a
37	chr2:37551024-37551074	PrEC	prostate:	n/a
38	chr2:37551108-37551158	AoSMC	blood vessel:	n/a
39	chr2:37571732-37571782	HRPEpiC	eye:	n/a
40	chr2:37570604-37570654	GM12891	blood:	n/a
41	chr2:37594523-37594573	BE2_C	brain:	n/a
42	chr2:37567721-37567771	MCF10A-Er-Src	breast:	n/a
43	chr2:37571732-37571782	NHDF-neo	bronchial:	n/a
44	chr2:37571729-37571779	HCF	heart:	n/a
45	chr2:37571178-37571228	SK-N-MC	brain:	n/a
46	chr2:37572102-37572152	PrEC	prostate:	n/a
47	chr2:37572396-37572446	GM06990	blood:	n/a
48	chr2:37571178-37571228	HEK293	kidney:	embryo
49	chr2:37551360-37551410	H1-hESC	embryonic stem cell:	embryo
50	chr2:37554747-37554797	SKMC	muscle:	n/a

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:3626527..3627417-chr2:37551455..37552202,2	NB4	blood:
2	chr2:37579913..37583058-chr2:37585203..37589963,5	K562	blood:
3	chr2:37553880..37556117-chr2:37565295..37568146,2	K562	blood:
4	chr2:37551825..37554292-chr2:37578586..37580717,2	K562	blood:
5	chr2:37551896..37552745-chr7:108166541..108167176,2	Hela-S3	cervix:
6	chr2:37558808..37561496-chr2:37570984..37573398,2	MCF-7	breast:
7	chr2:37558808..37561496-chr2:37570984..37573398,2	MCF-7	breast:
8	chr2:37582825..37585072-chr2:37588211..37589764,2	MCF-7	breast:
9	chr2:37574642..37576209-chr2:37580099..37581679,2	K562	blood:
10	chr2:37453426..37455818-chr2:37549364..37551378,2	K562	blood:
11	chr2:37543073..37544935-chr2:37554432..37557348,2	K562	blood:
12	chr2:37586244..37588961-chr2:37590934..37592508,2	K562	blood:
13	chr2:37545726..37548175-chr2:37554305..37557162,2	K562	blood:
14	chr2:37466663..37469374-chr2:37548966..37550827,2	K562	blood:
15	chr2:37582825..37585072-chr2:37588211..37589764,2	MCF-7	breast:
16	chr2:37584645..37586167-chr2:37590835..37592610,2	K562	blood:
17	chr2:37587482..37589041-chr2:37594550..37596941,2	K562	blood:
18	chr2:37586244..37588961-chr2:37590934..37592508,2	K562	blood:
19	chr2:37571184..37574506-chr2:37575236..37577117,3	MCF-7	breast:
20	chr2:37573383..37576359-chr2:37576591..37578098,2	K562	blood:
21	chr2:37574642..37576209-chr2:37580099..37581679,2	K562	blood:
22	chr2:37569565..37571229-chr2:37584533..37586394,2	K562	blood:
23	chr2:37549953..37551637-chr2:37554820..37556399,2	K562	blood:
24	chr2:37585150..37587898-chr2:37588394..37591715,3	MCF-7	breast:
25	chr2:37550944..37553103-chr2:37564333..37566233,2	K562	blood:
26	chr2:37573509..37575748-chr2:37602573..37605323,2	MCF-7	breast:
27	chr2:37591915..37594227-chr2:37596693..37599097,2	MCF-7	breast:
28	chr2:37553880..37556117-chr2:37565295..37568146,2	K562	blood:
29	chr2:37573383..37576359-chr2:37576591..37578098,2	K562	blood:
30	chr2:37541321..37543959-chr2:37558220..37560701,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-QPCT-1	chr2:37552203-37552259	XLOC_001428
2	lnc-QPCT-1	chr2:37552483-37552665	XLOC_001428
3	lnc-QPCT-1	chr2:37553620-37553924	XLOC_001428
4	lnc-QPCT-1	chr2:37552100-37552665	NONHSAT070118
5	lnc-QPCT-1	chr2:37553620-37553813	NONHSAT070118
6	lnc-QPCT-1	chr2:37553620-37553940	XLOC_001428

No data

Variant related genes	Relation type
ENSG00000232028	TF binding region
PRKD3	TF binding region
RNU6-939P	TF binding region
QPCT	TF binding region
ENSG00000232028	CpG island
PRKD3	CpG island
RNU6-939P	CpG island
QPCT	CpG island
ENSG00000135241	chromatin interactions
ENSG00000115828	chromatin interactions
ENSG00000003509	chromatin interactions
ENSG00000177602	chromatin interactions
ENSG00000115825	chromatin interactions
ENSG00000083457	chromatin interactions
ENSG00000207364	chromatin interactions
ENSG00000232028	chromatin interactions

Extended variants
information (count: 1889 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1889 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543447735	chr2:37550097-37550098	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs185501296	chr2:37550105-37550106	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs66896710	chr2:37550119-37550120	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs398080180	chr2:37550124-37550125	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs75896817	chr2:37550125-37550126	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs201003814	chr2:37550126-37550127	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs538039018	chr2:37550147-37550148	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs556047708	chr2:37550178-37550179	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs536982032	chr2:37550186-37550187	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs7583760	chr2:37550194-37550195	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs11689794	chr2:37550196-37550197	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs576669238	chr2:37550208-37550209	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs142700498	chr2:37550209-37550210	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs113838471	chr2:37550212-37550213	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs78369737	chr2:37550229-37550230	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs374462381	chr2:37550230-37550231	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs368470737	chr2:37550261-37550262	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs545359820	chr2:37550262-37550263	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs563860583	chr2:37550306-37550307	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs193196135	chr2:37550311-37550312	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs184518960	chr2:37550347-37550348	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs562190134	chr2:37550351-37550352	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs529467092	chr2:37550378-37550379	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs145288954	chr2:37550397-37550398	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs552798769	chr2:37550410-37550411	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs3050521	chr2:37550411-37550412	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs397836863	chr2:37550412-37550413	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs541962106	chr2:37550447-37550448	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs559961173	chr2:37550452-37550453	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs533385128	chr2:37550483-37550484	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs7570213	chr2:37550485-37550486	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs2192945	chr2:37550507-37550508	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs537586536	chr2:37550544-37550545	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs549456250	chr2:37550562-37550563	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs568193406	chr2:37550577-37550578	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs35475941	chr2:37550634-37550635	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs535624469	chr2:37550699-37550700	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs553799528	chr2:37550715-37550716	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs571982146	chr2:37550717-37550718	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs539050253	chr2:37550742-37550743	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs557291313	chr2:37550766-37550767	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs575629587	chr2:37550781-37550782	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs7570547	chr2:37550790-37550791	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs201781205	chr2:37550818-37550819	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs35947402	chr2:37550865-37550866	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs7584565	chr2:37550903-37550904	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs574167020	chr2:37550906-37550907	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs530405188	chr2:37550920-37550921	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs188781597	chr2:37550956-37550957	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs75359576	chr2:37550973-37550974	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD

Chromatin state (count:1353 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37484600-37550400	Weak transcription	Right Ventricle	heart
2	chr2:37509000-37550800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:37511000-37550800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:37520400-37550400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:37530600-37550400	Weak transcription	Thymus	Thymus
6	chr2:37533200-37550400	Weak transcription	Fetal Intestine Large	intestine
7	chr2:37534000-37550400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:37534400-37550400	Weak transcription	Lung	lung
9	chr2:37534400-37550600	Weak transcription	Left Ventricle	heart
10	chr2:37537000-37550400	Weak transcription	HSMMtube	muscle
11	chr2:37542000-37550400	Weak transcription	Colonic Mucosa	Colon
12	chr2:37542400-37550800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:37542800-37550800	Weak transcription	Gastric	stomach
14	chr2:37543000-37550400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr2:37543600-37550400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:37543800-37550600	Weak transcription	Fetal Brain Male	brain
17	chr2:37545800-37550400	Weak transcription	Ovary	ovary
18	chr2:37546000-37550400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:37546000-37551000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:37546400-37550400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:37547400-37550200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:37548200-37550400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr2:37548200-37550400	Enhancers	Primary B cells from peripheral blood	blood
24	chr2:37548200-37550600	Enhancers	Primary B cells from cord blood	blood
25	chr2:37548200-37550800	Weak transcription	Stomach Mucosa	stomach
26	chr2:37548400-37550200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr2:37548400-37550200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:37548400-37550200	Enhancers	HepG2	liver
29	chr2:37548400-37550400	Enhancers	Primary hematopoietic stem cells	blood
30	chr2:37548400-37550400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr2:37548400-37550400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:37548400-37550400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr2:37548400-37550400	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr2:37548400-37550400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr2:37548400-37550600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr2:37548400-37551000	Flanking Active TSS	Dnd41	blood
37	chr2:37548600-37550400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:37548600-37550400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr2:37548600-37550400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:37548600-37550400	Enhancers	Liver	Liver
41	chr2:37548600-37550400	Enhancers	Brain Germinal Matrix	brain
42	chr2:37548600-37550400	Enhancers	Fetal Heart	heart
43	chr2:37548600-37550400	Enhancers	Fetal Lung	lung
44	chr2:37548600-37550600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:37548800-37550400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr2:37548800-37550800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:37548800-37554000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:37549000-37550400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:37549000-37550400	Weak transcription	Fetal Brain Female	brain
50	chr2:37549000-37551000	Weak transcription	Spleen	Spleen

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Variant report

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