Variant report

Variant	esv3498261
Chromosome Location	chr2:86849516-86851839
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:534)
CpG islands
(count:610)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:534 , 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	chr2:86850837-86851251	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:86850422-86850465	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:86850945-86851278	K562	blood:	n/a	n/a
4	ATF2	chr2:86850667-86851115	GM12878	blood:	n/a	n/a
5	ATF3	chr2:86850136-86851012	A549	lung:	n/a	chr2:86850599-86850608 chr2:86850311-86850320 chr2:86850360-86850369
6	BACH1	chr2:86850034-86850975	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr2:86851286-86851440	K562	blood:	n/a	n/a
8	BCL3	chr2:86850669-86851114	GM12878	blood:	n/a	chr2:86851007-86851020 chr2:86850833-86850846 chr2:86851064-86851077
9	BCLAF1	chr2:86850680-86851186	GM12878	blood:	n/a	chr2:86851007-86851020 chr2:86850833-86850846 chr2:86851064-86851077 chr2:86851132-86851141
10	BHLHE40	chr2:86851167-86851198	A549	lung:	n/a	n/a
11	BHLHE40	chr2:86849702-86849949	K562	blood:	n/a	n/a
12	BHLHE40	chr2:86850778-86851122	K562	blood:	n/a	n/a
13	BHLHE40	chr2:86849803-86849841	GM12878	blood:	n/a	n/a
14	BHLHE40	chr2:86850708-86851120	GM12878	blood:	n/a	n/a
15	BRCA1	chr2:86850869-86851338	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr2:86850120-86850293	GM12878	blood:	n/a	n/a
17	BRCA1	chr2:86850860-86851019	HepG2	liver:	n/a	n/a
18	CBX3	chr2:86850885-86851750	K562	blood:	n/a	n/a
19	CCNT2	chr2:86850035-86851286	K562	blood:	n/a	chr2:86851009-86851018 chr2:86850415-86850424
20	CEBPB	chr2:86850864-86850881	HepG2	liver:	n/a	n/a
21	CEBPD	chr2:86850732-86851229	HepG2	liver:	n/a	n/a
22	CEBPD	chr2:86850384-86851218	HepG2	liver:	n/a	n/a
23	CHD1	chr2:86849322-86851075	GM12878	blood:	n/a	chr2:86850312-86850322 chr2:86850188-86850198
24	CHD1	chr2:86849939-86850359	H1-hESC	embryonic stem cell:	n/a	chr2:86850312-86850322 chr2:86850188-86850198
25	CHD2	chr2:86850308-86851266	K562	blood:	n/a	chr2:86850312-86850322 chr2:86851099-86851109
26	CHD2	chr2:86849581-86851301	Hela-S3	cervix:	n/a	chr2:86850312-86850322 chr2:86851099-86851109 chr2:86850188-86850198
27	CHD2	chr2:86849670-86851456	GM12878	blood:	n/a	chr2:86850312-86850322 chr2:86851099-86851109 chr2:86850188-86850198
28	CHD2	chr2:86850294-86851274	HepG2	liver:	n/a	chr2:86850312-86850322 chr2:86851099-86851109
29	CHD2	chr2:86850225-86851147	H1-hESC	embryonic stem cell:	n/a	chr2:86850312-86850322 chr2:86851099-86851109
30	CREB1	chr2:86850720-86851275	H1-hESC	embryonic stem cell:	n/a	n/a
31	CREB1	chr2:86849941-86851253	A549	lung:	n/a	n/a
32	CREB1	chr2:86850663-86851248	K562	blood:	n/a	n/a
33	CREB1	chr2:86850720-86851241	ECC-1	luminal epithelium:	n/a	n/a
34	CREB1	chr2:86850739-86851258	K562	blood:	n/a	n/a
35	CREB1	chr2:86850770-86851184	A549	lung:	n/a	n/a
36	CREB1	chr2:86850508-86851412	HepG2	liver:	n/a	n/a
37	CREB1	chr2:86849912-86851457	HepG2	liver:	n/a	n/a
38	CREB1	chr2:86850659-86851284	GM12878	blood:	n/a	n/a
39	CREB1	chr2:86850766-86851215	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTBP2	chr2:86849729-86851311	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr2:86850136-86850212	MCF-7	breast:	n/a	n/a
42	CTCF	chr2:86850149-86850345	GM12878	blood:	n/a	n/a
43	CTCF	chr2:86850880-86851030	Caco-2	colon:	n/a	n/a
44	CTCF	chr2:86851005-86851080	Spleen_OC	spleen:	n/a	n/a
45	CTCF	chr2:86850473-86850511	GM13976	blood:	n/a	n/a
46	CTCF	chr2:86849980-86850130	GM12875	blood:	n/a	n/a
47	CTCF	chr2:86850163-86850204	GM19238	blood:	n/a	n/a
48	CTCF	chr2:86850760-86850910	BJ	skin:	n/a	n/a
49	CTCF	chr2:86849920-86850070	GM12864	blood:	n/a	n/a
50	CTCF	chr2:86850993-86851001	Spleen_OC	spleen:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:86851071-86851121	HRE	kidney:	n/a
2	chr2:86850866-86850916	HEEpiC	esophagus:	n/a
3	chr2:86850406-86850456	NT2-D1	testis:	n/a
4	chr2:86850406-86850456	BE2_C	brain:	n/a
5	chr2:86850757-86850807	LNCaP	prostate:	n/a
6	chr2:86850884-86850934	K562	blood:	n/a
7	chr2:86850757-86850807	ECC-1	luminal epithelium:	n/a
8	chr2:86850884-86850934	HRE	kidney:	n/a
9	chr2:86851063-86851113	HepG2	liver:	n/a
10	chr2:86850888-86850938	HCPEpiC	choroid plexus:	n/a
11	chr2:86850866-86850916	ProgFib	skin:	n/a
12	chr2:86850043-86850093	HRCEpiC	kidney:	n/a
13	chr2:86850757-86850807	GM12878	blood:	n/a
14	chr2:86851318-86851368	Hepatocyte	liver:	n/a
15	chr2:86850866-86850916	HL-60	blood:	n/a
16	chr2:86851071-86851121	RPTEC	kidney:	n/a
17	chr2:86850866-86850916	HAEpiC	amniotic membrane:	n/a
18	chr2:86851063-86851113	NHDF-neo	bronchial:	n/a
19	chr2:86850406-86850456	K562	blood:	n/a
20	chr2:86851063-86851113	CMK	blood:	n/a
21	chr2:86850866-86850916	PrEC	prostate:	n/a
22	chr2:86851071-86851121	AG04450	lung:	fetal
23	chr2:86851035-86851085	HRE	kidney:	n/a
24	chr2:86851318-86851368	H1-hESC	embryonic stem cell:	embryo
25	chr2:86850884-86850934	ovcar-3	ovarian:	n/a
26	chr2:86850757-86850807	GM06990	blood:	n/a
27	chr2:86850043-86850093	NB4	blood:	n/a
28	chr2:86850406-86850456	HAEpiC	amniotic membrane:	n/a
29	chr2:86850888-86850938	SAEC	small airway:	n/a
30	chr2:86850757-86850807	AG10803	skin:	n/a
31	chr2:86851318-86851368	AoSMC	blood vessel:	n/a
32	chr2:86851318-86851368	GM06990	blood:	n/a
33	chr2:86850043-86850093	HCM	heart:	n/a
34	chr2:86851318-86851368	HIPEpiC	eye:	n/a
35	chr2:86850884-86850934	SK-N-SH_RA	brain:	n/a
36	chr2:86850757-86850807	NHBE	bronchial:	n/a
37	chr2:86851063-86851113	BJ	skin:	n/a
38	chr2:86851035-86851085	AG10803	skin:	n/a
39	chr2:86850884-86850934	HUVEC	blood vessel:	n/a
40	chr2:86851071-86851121	U87	brain:	n/a
41	chr2:86851071-86851121	H1-hESC	embryonic stem cell:	embryo
42	chr2:86850884-86850934	T-47D	breast:	n/a
43	chr2:86851318-86851368	Hela-S3	cervix:	n/a
44	chr2:86851318-86851368	SAEC	small airway:	n/a
45	chr2:86850884-86850934	HCF	heart:	n/a
46	chr2:86850043-86850093	ECC-1	luminal epithelium:	n/a
47	chr2:86850888-86850938	PrEC	prostate:	n/a
48	chr2:86851318-86851368	HCF	heart:	n/a
49	chr2:86850888-86850938	SK-N-SH	brain:	n/a
50	chr2:86850888-86850938	NT2-D1	testis:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:183604468..183605039-chr2:86850253..86851080,2	Hela-S3	cervix:
2	chr2:86850155..86850837-chr7:27224722..27225222,2	Hela-S3	cervix:
3	chr2:86676152..86678942-chr2:86849820..86852421,2	MCF-7	breast:
4	chr2:86416284..86418486-chr2:86847509..86849748,2	K562	blood:
5	chr2:86848500..86851973-chr2:86945425..86949651,4	MCF-7	breast:
6	chr2:86849205..86851980-chr4:103788532..103791480,2	MCF-7	breast:
7	chr2:86850385..86850981-chr7:8007809..8008749,2	NB4	blood:
8	chr13:111367737..111368547-chr2:86850388..86850983,2	Hela-S3	cervix:
9	chr17:8075574..8078045-chr2:86848559..86850973,2	MCF-7	breast:
10	chr2:86788265..86792368-chr2:86847223..86851122,9	MCF-7	breast:
11	chr14:91526539..91527223-chr2:86850440..86850998,2	Hela-S3	cervix:
12	chr16:88877838..88878533-chr2:86850106..86850993,2	Hela-S3	cervix:
13	chr2:86667340..86669262-chr2:86848703..86850957,2	MCF-7	breast:
14	chr2:86789208..86791396-chr2:86848677..86850220,2	K562	blood:
15	chr2:86849813..86851532-chr9:114391747..114393838,2	MCF-7	breast:
16	chr2:86667874..86671580-chr2:86848738..86852940,5	K562	blood:
17	chr2:86839004..86842325-chr2:86847581..86852030,6	MCF-7	breast:
18	chr2:86850777..86851624-chr8:145550290..145550908,2	HCT-116	colon:
19	chr2:86789208..86791396-chr2:86847374..86850220,3	K562	blood:
20	chr2:86849761..86852664-chr2:86946875..86949825,4	MCF-7	breast:
21	chr2:86850136..86852379-chr2:86973884..86976847,2	K562	blood:
22	chr10:106097756..106098806-chr2:86850676..86851290,3	Hela-S3	cervix:
23	chr2:86787885..86791617-chr2:86846945..86852237,10	MCF-7	breast:
24	chr2:86669498..86671776-chr2:86849448..86851643,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNF103-CHMP3	TF binding region
RNF103	TF binding region
RNF103-CHMP3	CpG island
RNF103	CpG island
ENSG00000244115	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000115561	chromatin interactions
ENSG00000204173	chromatin interactions
ENSG00000239305	chromatin interactions
ENSG00000109332	chromatin interactions
ENSG00000145354	chromatin interactions
ENSG00000185000	chromatin interactions
ENSG00000100784	chromatin interactions
ENSG00000059769	chromatin interactions
ENSG00000106415	chromatin interactions
ENSG00000148841	chromatin interactions
ENSG00000198931	chromatin interactions
ENSG00000228363	chromatin interactions
ENSG00000133943	chromatin interactions
ENSG00000240990	chromatin interactions
ENSG00000162704	chromatin interactions
ENSG00000249884	chromatin interactions
ENSG00000005073	chromatin interactions
ENSG00000153561	chromatin interactions
ENSG00000200463	chromatin interactions
ENSG00000115548	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377300696	chr2:86849529-86849530	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs573407348	chr2:86849547-86849548	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs113817726	chr2:86849609-86849610	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs149055270	chr2:86849657-86849658	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs116455611	chr2:86849736-86849737	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs529801471	chr2:86849738-86849739	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs74389949	chr2:86849772-86849773	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs373525472	chr2:86849809-86849810	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs139047742	chr2:86849821-86849822	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs61731713	chr2:86849825-86849826	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs370207546	chr2:86849834-86849835	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs144891585	chr2:86849837-86849838	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs373913066	chr2:86849916-86849917	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs368052547	chr2:86849927-86849928	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs142437227	chr2:86849938-86849939	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs550693796	chr2:86849953-86849954	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs563649442	chr2:86849958-86849959	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs370597658	chr2:86849961-86849962	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs530694868	chr2:86849965-86849966	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs201333698	chr2:86849980-86849981	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs567091185	chr2:86849995-86849996	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs140650030	chr2:86850009-86850010	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs1057104	chr2:86850018-86850019	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs534434852	chr2:86850020-86850021	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs396354	chr2:86850022-86850023	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs570918825	chr2:86850040-86850041	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs7575444	chr2:86850073-86850074	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs556679632	chr2:86850096-86850097	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs575918672	chr2:86850102-86850103	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs536526115	chr2:86850173-86850174	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
31	rs555216042	chr2:86850176-86850177	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
32	rs571206475	chr2:86850200-86850201	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
33	rs573444333	chr2:86850277-86850278	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
34	rs184586296	chr2:86850279-86850280	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
35	rs540742574	chr2:86850431-86850432	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
36	rs143100649	chr2:86850469-86850470	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
37	rs577266062	chr2:86850494-86850495	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
38	rs375048280	chr2:86850514-86850515	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
39	rs189411385	chr2:86850680-86850681	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
40	rs115303575	chr2:86850798-86850799	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
41	rs562724092	chr2:86850870-86850871	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
42	rs530851577	chr2:86850933-86850934	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
43	rs548837700	chr2:86850942-86850943	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
44	rs560750508	chr2:86850963-86850964	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
45	rs3810829	chr2:86850978-86850979	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs546380086	chr2:86850981-86850982	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
47	rs3810830	chr2:86850982-86850983	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
48	rs538331252	chr2:86851030-86851031	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs550582869	chr2:86851045-86851046	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
50	rs568723625	chr2:86851094-86851095	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16272173	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD

Chromatin state (count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86829400-86849600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:86841200-86849600	Weak transcription	Gastric	stomach
3	chr2:86841200-86849600	Weak transcription	Spleen	Spleen
4	chr2:86841400-86849600	Weak transcription	Lung	lung
5	chr2:86842200-86849600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:86843000-86849600	Weak transcription	Esophagus	oesophagus
7	chr2:86843200-86849600	Weak transcription	Pancreas	Pancrea
8	chr2:86845200-86849600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:86847200-86851200	Active TSS	Duodenum Mucosa	Duodenum
10	chr2:86847200-86851400	Active TSS	Right Atrium	heart
11	chr2:86847400-86850000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:86847400-86851600	Active TSS	Right Ventricle	heart
13	chr2:86847600-86851200	Active TSS	GM12878-XiMat	blood
14	chr2:86847600-86851400	Active TSS	Stomach Smooth Muscle	stomach
15	chr2:86847800-86849800	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr2:86847800-86850000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:86847800-86851200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:86847800-86851400	Active TSS	Brain Angular Gyrus	brain
19	chr2:86848000-86851200	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr2:86848000-86851200	Active TSS	Fetal Intestine Small	intestine
21	chr2:86848000-86851200	Active TSS	HMEC	breast
22	chr2:86848000-86851400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:86848000-86851400	Active TSS	Brain Anterior Caudate	brain
24	chr2:86848000-86851400	Active TSS	Brain Cingulate Gyrus	brain
25	chr2:86848000-86851400	Active TSS	Colon Smooth Muscle	Colon
26	chr2:86848000-86851400	Active TSS	Fetal Brain Female	brain
27	chr2:86848000-86851400	Active TSS	HSMMtube	muscle
28	chr2:86848000-86851600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:86848000-86851600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:86848200-86849600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:86848200-86849600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr2:86848200-86849800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:86848200-86849800	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr2:86848200-86850000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:86848200-86850000	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr2:86848200-86850000	Active TSS	Brain Germinal Matrix	brain
37	chr2:86848200-86851200	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr2:86848200-86851200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:86848200-86851200	Active TSS	Fetal Intestine Large	intestine
40	chr2:86848200-86851200	Active TSS	Fetal Muscle Leg	muscle
41	chr2:86848200-86851200	Active TSS	Fetal Stomach	stomach
42	chr2:86848200-86851200	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr2:86848200-86851200	Active TSS	Stomach Mucosa	stomach
44	chr2:86848200-86851400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:86848200-86851400	Active TSS	Colonic Mucosa	Colon
46	chr2:86848200-86851400	Active TSS	Left Ventricle	heart
47	chr2:86848200-86851400	Active TSS	Ovary	ovary
48	chr2:86848200-86851400	Active TSS	Psoas Muscle	Psoas
49	chr2:86848200-86851400	Active TSS	HSMM	muscle
50	chr2:86848200-86851600	Active TSS	Aorta	Aorta

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