Variant report

Variant	nsv1008452
Chromosome Location	chr2:55809191-55987274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3104)
CpG islands
(count:1832)
Chromatin interactive
region (count:167)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3104 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:55920674-55921347	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:55842596-55842818	K562	blood:	n/a	n/a
3	ARID3A	chr2:55920973-55921350	K562	blood:	n/a	n/a
4	ARID3A	chr2:55847400-55847606	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:55942435-55942557	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:55817957-55818252	K562	blood:	n/a	n/a
7	ARID3A	chr2:55945346-55945659	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:55842471-55842593	HepG2	liver:	n/a	n/a
9	ARID3A	chr2:55845957-55846135	K562	blood:	n/a	n/a
10	ATF1	chr2:55920842-55921225	K562	blood:	n/a	n/a
11	ATF1	chr2:55844615-55845343	K562	blood:	n/a	n/a
12	ATF2	chr2:55844577-55845303	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr2:55844560-55845376	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr2:55817903-55818283	GM12878	blood:	n/a	n/a
15	ATF2	chr2:55920708-55921249	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr2:55920700-55921352	GM12878	blood:	n/a	n/a
17	ATF2	chr2:55844544-55845273	GM12878	blood:	n/a	n/a
18	ATF2	chr2:55844540-55845656	GM12878	blood:	n/a	n/a
19	ATF3	chr2:55844198-55845416	A549	lung:	n/a	n/a
20	ATF3	chr2:55920613-55921267	A549	lung:	n/a	n/a
21	ATF3	chr2:55920763-55921385	A549	lung:	n/a	n/a
22	ATF3	chr2:55844469-55845383	A549	lung:	n/a	n/a
23	BACH1	chr2:55844746-55845190	H1-hESC	embryonic stem cell:	n/a	n/a
24	BATF	chr2:55817930-55818245	GM12878	blood:	n/a	chr2:55818111-55818122 chr2:55818093-55818104 chr2:55818132-55818142 chr2:55818127-55818138
25	BATF	chr2:55817956-55818323	GM12878	blood:	n/a	chr2:55818111-55818122 chr2:55818093-55818104 chr2:55818132-55818142 chr2:55818127-55818138
26	BCL11A	chr2:55817967-55818284	GM12878	blood:	n/a	chr2:55818131-55818140
27	BCL3	chr2:55905107-55905379	GM12878	blood:	n/a	n/a
28	BCL3	chr2:55920594-55921316	A549	lung:	n/a	chr2:55921017-55921026
29	BCL3	chr2:55844417-55845427	A549	lung:	n/a	chr2:55845166-55845175
30	BCL3	chr2:55844511-55845911	A549	lung:	n/a	chr2:55845166-55845175
31	BCL3	chr2:55831193-55831515	GM12878	blood:	n/a	n/a
32	BCL3	chr2:55920529-55921291	A549	lung:	n/a	chr2:55921017-55921026
33	BCLAF1	chr2:55920670-55921264	GM12878	blood:	n/a	chr2:55921017-55921026
34	BCLAF1	chr2:55844522-55845387	GM12878	blood:	n/a	chr2:55845166-55845175
35	BCLAF1	chr2:55920680-55921228	GM12878	blood:	n/a	chr2:55921017-55921026
36	BCLAF1	chr2:55844532-55845533	GM12878	blood:	n/a	chr2:55845166-55845175
37	BHLHE40	chr2:55843601-55846225	K562	blood:	n/a	n/a
38	BHLHE40	chr2:55844577-55846448	GM12878	blood:	n/a	n/a
39	BHLHE40	chr2:55920705-55921206	K562	blood:	n/a	n/a
40	BHLHE40	chr2:55920674-55921168	HepG2	liver:	n/a	n/a
41	BHLHE40	chr2:55847359-55847675	K562	blood:	n/a	n/a
42	BHLHE40	chr2:55844675-55844930	HepG2	liver:	n/a	n/a
43	BHLHE40	chr2:55843607-55844198	GM12878	blood:	n/a	n/a
44	BHLHE40	chr2:55932430-55932719	K562	blood:	n/a	n/a
45	BHLHE40	chr2:55920736-55921304	GM12878	blood:	n/a	n/a
46	BHLHE40	chr2:55847380-55847566	GM12878	blood:	n/a	n/a
47	BHLHE40	chr2:55945473-55945569	K562	blood:	n/a	n/a
48	BHLHE40	chr2:55932472-55932647	HepG2	liver:	n/a	n/a
49	BHLHE40	chr2:55843614-55845232	HepG2	liver:	n/a	n/a
50	BRCA1	chr2:55850456-55850479	Hela-S3	cervix:	n/a	n/a

(count:1832 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:55847483-55847533	HAEpiC	amniotic membrane:	n/a
2	chr2:55921045-55921095	K562	blood:	n/a
3	chr2:55847483-55847533	HAEpiC	amniotic membrane:	n/a
4	chr2:55921045-55921095	K562	blood:	n/a
5	chr2:55921863-55921913	GM06990	blood:	n/a
6	chr2:55920781-55920831	GM06990	blood:	n/a
7	chr2:55844203-55844253	HCT-116	colon:	n/a
8	chr2:55921094-55921144	BE2_C	brain:	n/a
9	chr2:55844203-55844253	MCF10A-Er-Src	breast:	n/a
10	chr2:55920613-55920663	NH-A	brain:	n/a
11	chr2:55920781-55920831	HAEpiC	amniotic membrane:	n/a
12	chr2:55844806-55844856	GM19239	blood:	n/a
13	chr2:55844609-55844659	SK-N-MC	brain:	n/a
14	chr2:55916793-55916843	HEEpiC	esophagus:	n/a
15	chr2:55919983-55920033	ProgFib	skin:	n/a
16	chr2:55921125-55921175	HL-60	blood:	n/a
17	chr2:55845095-55845145	SKMC	muscle:	n/a
18	chr2:55921072-55921122	HCF	heart:	n/a
19	chr2:55920781-55920831	BJ	skin:	n/a
20	chr2:55845736-55845786	SAEC	small airway:	n/a
21	chr2:55847483-55847533	HRE	kidney:	n/a
22	chr2:55923768-55923818	SK-N-MC	brain:	n/a
23	chr2:55921045-55921095	HCT-116	colon:	n/a
24	chr2:55920564-55920614	Caco-2	colon:	n/a
25	chr2:55843804-55843854	Hela-S3	cervix:	n/a
26	chr2:55923768-55923818	BE2_C	brain:	n/a
27	chr2:55845095-55845145	HCPEpiC	choroid plexus:	n/a
28	chr2:55845736-55845786	PANC-1	pancreas:	n/a
29	chr2:55844203-55844253	A549	lung:	n/a
30	chr2:55847483-55847533	HCPEpiC	choroid plexus:	n/a
31	chr2:55844294-55844344	HEEpiC	esophagus:	n/a
32	chr2:55844806-55844856	Hela-S3	cervix:	n/a
33	chr2:55921125-55921175	AG09319	gingival:	n/a
34	chr2:55845095-55845145	AG09319	gingival:	n/a
35	chr2:55919983-55920033	BJ	skin:	n/a
36	chr2:55921863-55921913	GM12878	blood:	n/a
37	chr2:55845619-55845669	Caco-2	colon:	n/a
38	chr2:55845095-55845145	BJ	skin:	n/a
39	chr2:55844203-55844253	Jurkat	blood:	n/a
40	chr2:55845713-55845763	SK-N-SH	brain:	n/a
41	chr2:55843772-55843822	U87	brain:	n/a
42	chr2:55843804-55843854	HL-60	blood:	n/a
43	chr2:55843804-55843854	BE2_C	brain:	n/a
44	chr2:55845619-55845669	NHDF-neo	bronchial:	n/a
45	chr2:55920564-55920614	NB4	blood:	n/a
46	chr2:55919983-55920033	HMEC	breast:	n/a
47	chr2:55844522-55844572	AoSMC	blood vessel:	n/a
48	chr2:55916793-55916843	H1-hESC	embryonic stem cell:	embryo
49	chr2:55844522-55844572	CMK	blood:	n/a
50	chr2:55844806-55844856	HMEC	breast:	n/a

(count:167 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr2:55844652..55846516-chr2:55872491..55875236,2	MCF-7	breast:
2	chr2:55908913..55911082-chr2:55915955..55917919,2	K562	blood:
3	chr2:55904255..55906446-chr2:55915981..55918234,2	K562	blood:
4	chr2:55910858..55913187-chr2:55918020..55920146,2	K562	blood:
5	chr2:55816894..55821327-chr2:55821705..55825491,6	K562	blood:
6	chr2:55852037..55854671-chr2:55856374..55858421,2	MCF-7	breast:
7	chr2:55884125..55886913-chr2:55887602..55890288,2	MCF-7	breast:
8	chr2:55893661..55895607-chr2:55919705..55921512,2	K562	blood:
9	chr2:55843883..55847224-chr2:55855243..55860059,7	MCF-7	breast:
10	chr2:55848892..55851384-chr2:55854717..55856988,2	MCF-7	breast:
11	chr15:52859559..52861665-chr2:55842687..55845255,2	MCF-7	breast:
12	chr2:55844655..55846810-chr2:55922812..55925513,2	K562	blood:
13	chr2:55827514..55830372-chr2:55836467..55838668,2	MCF-7	breast:
14	chr17:27052759..27053541-chr2:55843996..55844983,2	Hela-S3	cervix:
15	chr2:55900455..55903347-chr2:55904036..55907328,3	K562	blood:
16	chr2:55924095..55926502-chr2:55928603..55930302,2	K562	blood:
17	chr2:55910858..55913187-chr2:55918020..55920146,2	K562	blood:
18	chr2:55904255..55906446-chr2:55915981..55918234,2	K562	blood:
19	chr2:55924095..55926502-chr2:55928603..55930302,2	K562	blood:
20	chr2:55844845..55846473-chr2:55855751..55857427,2	MCF-7	breast:
21	chr2:55945047..55945916-chr2:56236760..56237988,4	MCF-7	breast:
22	chr2:55844240..55846484-chr2:55936559..55939382,2	MCF-7	breast:
23	chr2:55844652..55846516-chr2:55872491..55875236,2	MCF-7	breast:
24	chr2:55452223..55454388-chr2:55835681..55838374,2	K562	blood:
25	chr2:55852070..55854704-chr2:55855790..55860246,6	K562	blood:
26	chr2:55915025..55917034-chr2:55917366..55919436,2	MCF-7	breast:
27	chr2:55911687..55914723-chr2:55917441..55920952,3	K562	blood:
28	chr17:62222684..62223474-chr2:55920600..55921160,2	Hela-S3	cervix:
29	chr2:55852070..55854704-chr2:55855790..55860246,6	K562	blood:
30	chr2:55276798..55279791-chr2:55841794..55843892,2	K562	blood:
31	chr2:55912617..55915490-chr2:55920538..55922128,2	MCF-7	breast:
32	chr2:55847894..55850021-chr2:55856235..55857780,2	MCF-7	breast:
33	chr2:55865013..55867773-chr2:55869528..55871983,2	K562	blood:
34	chr2:55919171..55920952-chr2:55938967..55941895,2	MCF-7	breast:
35	chr2:55828430..55830196-chr2:55843729..55846415,2	MCF-7	breast:
36	chr2:55977456..55979325-chr2:56414162..56415751,2	K562	blood:
37	chr2:55903431..55905646-chr2:55905764..55908923,3	K562	blood:
38	chr2:55845243..55846002-chr20:42805742..42806520,2	Hela-S3	cervix:
39	chr2:55273795..55276620-chr2:55843969..55846667,2	K562	blood:
40	chr2:55876589..55879257-chr2:55911121..55913801,2	K562	blood:
41	chr2:55496021..55497900-chr2:55843389..55845266,2	K562	blood:
42	chr2:55643936..55648492-chr2:55843198..55848689,6	K562	blood:
43	chr2:55908037..55910192-chr2:55913450..55914973,2	K562	blood:
44	chr2:55900367..55902394-chr2:55919082..55920612,2	MCF-7	breast:
45	chr2:55923895..55927237-chr2:55928589..55931342,3	K562	blood:
46	chr2:55919171..55920952-chr2:55938967..55941895,2	MCF-7	breast:
47	chr2:55943881..55946260-chr2:56171300..56172831,2	K562	blood:
48	chr12:96894523..96895371-chr2:55840752..55841281,2	MCF-7	breast:
49	chr2:55857547..55860047-chr2:55862706..55864207,2	MCF-7	breast:
50	chr2:55939884..55941673-chr2:55943999..55946003,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC104-4	chr2:55858184-55858573	NONHSAT070801
2	lnc-PNPT1-1	chr2:55858185-55858573	XLOC_002099
3	lnc-PNPT1-1	chr2:55852073-55854069	XLOC_002099
4	lnc-CCDC104-3	chr2:55845115-55846902	NONHSAT070800
5	lnc-CCDC104-4	chr2:55852073-55854069	NONHSAT070801
6	lnc-CCDC104-3	chr2:55845044-55845508	ENSG00000272606.1
7	lnc-CCDC104-6	chr2:55927183-55927442	NONHSAT070804

No data

Variant related genes	Relation type
ENSG00000272606	TF binding region
PNPT1	TF binding region
SMEK2	TF binding region
ENSG00000272606	CpG island
PNPT1	CpG island
SMEK2	CpG island
ENSG00000143947	chromatin interactions
ENSG00000075624	chromatin interactions
ENSG00000115355	chromatin interactions
ENSG00000272606	chromatin interactions
ENSG00000156384	chromatin interactions
ENSG00000178188	chromatin interactions
ENSG00000173163	chromatin interactions
ENSG00000163001	chromatin interactions
ENSG00000162997	chromatin interactions
ENSG00000207798	chromatin interactions
ENSG00000143977	chromatin interactions
ENSG00000224960	chromatin interactions
ENSG00000085760	chromatin interactions
ENSG00000261766	chromatin interactions
ENSG00000160602	chromatin interactions
ENSG00000162994	chromatin interactions
ENSG00000138041	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000160606	chromatin interactions
ENSG00000115484	chromatin interactions
ENSG00000115310	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000128989	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000138035	chromatin interactions
FOXO3	miRNA target sites
FAM46A	miRNA target sites

Extended variants
information (count: 7892 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:7892 , 50 per page) page: 1 2 3 4 5 6 7 ... 158

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181795511	chr2:55809224-55809225	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570840722	chr2:55809229-55809230	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530561977	chr2:55809421-55809422	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186106127	chr2:55809506-55809507	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539521343	chr2:55809544-55809545	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188958590	chr2:55809547-55809548	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113448828	chr2:55809605-55809606	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs546458948	chr2:55809634-55809635	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs369878570	chr2:55809728-55809729	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs373386580	chr2:55809729-55809730	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs150111475	chr2:55809748-55809749	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs115040029	chr2:55809760-55809761	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs548602816	chr2:55809814-55809815	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs72803565	chr2:55809852-55809853	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs537395570	chr2:55809853-55809854	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs557512079	chr2:55809855-55809856	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs570924199	chr2:55809899-55809900	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs540073684	chr2:55809913-55809914	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs190883248	chr2:55809929-55809930	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs573528495	chr2:55809930-55809931	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs542151332	chr2:55809934-55809935	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs57298935	chr2:55809943-55809944	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs59822040	chr2:55809989-55809990	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs371984191	chr2:55809995-55809996	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs138414345	chr2:55810008-55810009	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs72803566	chr2:55810045-55810046	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs540465344	chr2:55810048-55810049	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs574349242	chr2:55810055-55810056	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs374491715	chr2:55810057-55810058	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs543326016	chr2:55810086-55810087	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs56244624	chr2:55810205-55810206	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs56161414	chr2:55810208-55810209	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs560077664	chr2:55810212-55810213	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs182831610	chr2:55810237-55810238	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs529042816	chr2:55810243-55810244	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs376892322	chr2:55810297-55810298	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs549008841	chr2:55810343-55810344	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs569145424	chr2:55810383-55810384	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs530944243	chr2:55810404-55810405	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13015018	chr2:55810422-55810423	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs13015030	chr2:55810438-55810439	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs185799180	chr2:55810443-55810444	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149239180	chr2:55810467-55810468	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs59796313	chr2:55810506-55810507	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs60683757	chr2:55810517-55810518	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183154148	chr2:55810562-55810563	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575501531	chr2:55810609-55810610	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187438716	chr2:55810643-55810644	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528677764	chr2:55810653-55810654	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116063241	chr2:55810661-55810662	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4596 , 50 per page) page: 1 2 3 4 5 6 7 ... 92

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55752600-55831400	Weak transcription	Stomach Mucosa	stomach
2	chr2:55769600-55816000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:55770400-55818200	Weak transcription	Small Intestine	intestine
4	chr2:55770600-55821600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr2:55770800-55815800	Strong transcription	Liver	Liver
6	chr2:55779600-55816200	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:55779600-55831400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:55788600-55816600	Strong transcription	Primary B cells from peripheral blood	blood
9	chr2:55788800-55825200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:55789800-55822800	Weak transcription	HSMMtube	muscle
11	chr2:55789800-55843600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:55790200-55812800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:55790200-55829000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:55790200-55842400	Weak transcription	Fetal Brain Male	brain
15	chr2:55790400-55836200	Weak transcription	Fetal Heart	heart
16	chr2:55790800-55816600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:55790800-55819400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:55791200-55812200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:55793400-55817000	Strong transcription	Fetal Thymus	thymus
20	chr2:55794200-55818200	Weak transcription	Psoas Muscle	Psoas
21	chr2:55794400-55812200	Weak transcription	NHLF	lung
22	chr2:55794400-55825200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:55794400-55829000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:55794800-55816200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr2:55796800-55823800	Weak transcription	Thymus	Thymus
26	chr2:55796800-55825200	Weak transcription	Brain Substantia Nigra	brain
27	chr2:55796800-55825600	Weak transcription	Pancreas	Pancrea
28	chr2:55796800-55829400	Weak transcription	Esophagus	oesophagus
29	chr2:55796800-55842600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:55797000-55811400	Weak transcription	Brain Germinal Matrix	brain
31	chr2:55797000-55818200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:55797000-55824200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:55797000-55828000	Weak transcription	Aorta	Aorta
34	chr2:55797000-55829400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:55797000-55829600	Weak transcription	Gastric	stomach
36	chr2:55797600-55810600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:55798000-55812200	Weak transcription	Brain Angular Gyrus	brain
38	chr2:55799600-55810600	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr2:55800400-55809200	Strong transcription	Dnd41	blood
40	chr2:55800800-55812200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:55801400-55820000	Weak transcription	Ovary	ovary
42	chr2:55802200-55812600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:55802200-55815800	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr2:55802200-55818200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:55802400-55809400	Strong transcription	A549	lung
46	chr2:55802400-55810000	Strong transcription	GM12878-XiMat	blood
47	chr2:55802400-55816200	Strong transcription	Placenta	Placenta
48	chr2:55802400-55816800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:55802400-55816800	Strong transcription	HepG2	liver
50	chr2:55802600-55809200	Strong transcription	HUES64 Cell Line	embryonic stem cell

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