Variant report

Variant	nsv833992
Chromosome Location	chr2:48814223-48998037
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1489)
CpG islands
(count:2077)
Chromatin interactive
region (count:45)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1489 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:48850023-48850151	K562	blood:	n/a	n/a
2	ARID3A	chr2:48816337-48816665	K562	blood:	n/a	n/a
3	ARID3A	chr2:48816377-48816687	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:48832723-48833286	K562	blood:	n/a	n/a
5	ARID3A	chr2:48827388-48827716	K562	blood:	n/a	chr2:48827687-48827703
6	ARID3A	chr2:48834779-48835112	K562	blood:	n/a	n/a
7	ATF1	chr2:48904722-48905003	K562	blood:	n/a	n/a
8	ATF1	chr2:48832810-48833265	K562	blood:	n/a	n/a
9	ATF1	chr2:48930875-48931104	K562	blood:	n/a	n/a
10	ATF1	chr2:48878247-48878500	K562	blood:	n/a	n/a
11	ATF3	chr2:48834690-48835094	K562	blood:	n/a	n/a
12	ATF3	chr2:48832914-48833249	K562	blood:	n/a	n/a
13	BACH1	chr2:48953356-48953556	K562	blood:	n/a	n/a
14	BATF	chr2:48977026-48977296	GM12878	blood:	n/a	chr2:48977147-48977158 chr2:48977148-48977158
15	BATF	chr2:48976989-48977239	GM12878	blood:	n/a	chr2:48977147-48977158 chr2:48977148-48977158
16	BHLHE40	chr2:48834871-48834971	K562	blood:	n/a	n/a
17	BHLHE40	chr2:48942448-48942774	K562	blood:	n/a	n/a
18	BHLHE40	chr2:48832874-48833229	K562	blood:	n/a	n/a
19	BHLHE40	chr2:48874042-48874175	K562	blood:	n/a	n/a
20	BHLHE40	chr2:48827501-48827675	GM12878	blood:	n/a	n/a
21	CBX3	chr2:48834288-48835170	HCT-116	colon:	n/a	n/a
22	CBX3	chr2:48832720-48833279	K562	blood:	n/a	n/a
23	CBX3	chr2:48834627-48835227	K562	blood:	n/a	n/a
24	CBX3	chr2:48832078-48833351	K562	blood:	n/a	n/a
25	CBX3	chr2:48934682-48934922	K562	blood:	n/a	n/a
26	CBX3	chr2:48834298-48835187	HCT-116	colon:	n/a	n/a
27	CBX3	chr2:48840504-48840934	K562	blood:	n/a	n/a
28	CCNT2	chr2:48860293-48860625	K562	blood:	n/a	n/a
29	CCNT2	chr2:48834963-48835190	K562	blood:	n/a	n/a
30	CCNT2	chr2:48832431-48833255	K562	blood:	n/a	n/a
31	CCNT2	chr2:48982729-48982816	K562	blood:	n/a	n/a
32	CEBPB	chr2:48948846-48948944	HepG2	liver:	n/a	chr2:48948890-48948901
33	CEBPB	chr2:48962045-48962384	IMR90	lung:	n/a	n/a
34	CEBPB	chr2:48950315-48950600	H1-hESC	embryonic stem cell:	n/a	chr2:48950437-48950450 chr2:48950379-48950391
35	CEBPB	chr2:48834855-48835202	K562	blood:	n/a	n/a
36	CEBPB	chr2:48832893-48833217	K562	blood:	n/a	n/a
37	CEBPB	chr2:48942390-48942990	IMR90	lung:	n/a	n/a
38	CEBPB	chr2:48834235-48835238	HCT-116	colon:	n/a	n/a
39	CEBPB	chr2:48945017-48945336	K562	blood:	n/a	chr2:48945177-48945188
40	CEBPB	chr2:48962168-48962257	HepG2	liver:	n/a	n/a
41	CEBPB	chr2:48832603-48833395	K562	blood:	n/a	chr2:48832738-48832749
42	CEBPB	chr2:48846758-48846809	A549	lung:	n/a	chr2:48846764-48846777
43	CEBPB	chr2:48850005-48850195	K562	blood:	n/a	n/a
44	CEBPB	chr2:48834900-48835181	K562	blood:	n/a	n/a
45	CEBPB	chr2:48945061-48945333	H1-hESC	embryonic stem cell:	n/a	chr2:48945177-48945188
46	CEBPB	chr2:48950088-48950754	IMR90	lung:	n/a	chr2:48950437-48950450 chr2:48950379-48950391
47	CEBPB	chr2:48832568-48833313	K562	blood:	n/a	chr2:48832738-48832749
48	CEBPB	chr2:48937663-48937692	IMR90	lung:	n/a	n/a
49	CEBPB	chr2:48948433-48948535	A549	lung:	n/a	n/a
50	CEBPB	chr2:48872685-48872904	K562	blood:	n/a	n/a

(count:2077 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:48982509-48982559	A549	lung:	n/a
2	chr2:48982683-48982733	SAEC	small airway:	n/a
3	chr2:48844916-48844966	LNCaP	prostate:	n/a
4	chr2:48982509-48982559	A549	lung:	n/a
5	chr2:48982683-48982733	SAEC	small airway:	n/a
6	chr2:48844916-48844966	LNCaP	prostate:	n/a
7	chr2:48982509-48982559	HCF	heart:	n/a
8	chr2:48844195-48844245	Hela-S3	cervix:	n/a
9	chr2:48825037-48825087	SAEC	small airway:	n/a
10	chr2:48844916-48844966	NHBE	bronchial:	n/a
11	chr2:48983679-48983729	GM12878	blood:	n/a
12	chr2:48844728-48844778	HepG2	liver:	n/a
13	chr2:48844195-48844245	HAEpiC	amniotic membrane:	n/a
14	chr2:48814721-48814771	HNPCEpiC	eye:	n/a
15	chr2:48842430-48842480	K562	blood:	n/a
16	chr2:48844195-48844245	HCF	heart:	n/a
17	chr2:48842061-48842111	GM12891	blood:	n/a
18	chr2:48962273-48962323	Hepatocyte	liver:	n/a
19	chr2:48983189-48983239	GM06990	blood:	n/a
20	chr2:48962273-48962323	HRPEpiC	eye:	n/a
21	chr2:48844916-48844966	BJ	skin:	n/a
22	chr2:48927520-48927570	HUVEC	blood vessel:	n/a
23	chr2:48927520-48927570	HCT-116	colon:	n/a
24	chr2:48927520-48927570	BJ	skin:	n/a
25	chr2:48844984-48845034	SK-N-MC	brain:	n/a
26	chr2:48848421-48848471	AoSMC	blood vessel:	n/a
27	chr2:48844892-48844942	AoSMC	blood vessel:	n/a
28	chr2:48950153-48950203	SK-N-SH_RA	brain:	n/a
29	chr2:48960164-48960214	HUVEC	blood vessel:	n/a
30	chr2:48825037-48825087	AG09309	skin:	n/a
31	chr2:48844971-48845021	GM19239	blood:	n/a
32	chr2:48982957-48983007	SK-N-SH_RA	brain:	n/a
33	chr2:48983178-48983228	HIPEpiC	eye:	n/a
34	chr2:48980605-48980655	Jurkat	blood:	n/a
35	chr2:48842061-48842111	HNPCEpiC	eye:	n/a
36	chr2:48983178-48983228	SK-N-SH_RA	brain:	n/a
37	chr2:48977089-48977139	HL-60	blood:	n/a
38	chr2:48842430-48842480	HCT-116	colon:	n/a
39	chr2:48844971-48845021	GM12878	blood:	n/a
40	chr2:48844763-48844813	AG09319	gingival:	n/a
41	chr2:48982957-48983007	HEEpiC	esophagus:	n/a
42	chr2:48844195-48844245	SAEC	small airway:	n/a
43	chr2:48920986-48921036	PFSK-1	brain:	n/a
44	chr2:48962273-48962323	GM19239	blood:	n/a
45	chr2:48848421-48848471	GM06990	blood:	n/a
46	chr2:48982950-48983000	HRCEpiC	kidney:	n/a
47	chr2:48927520-48927570	HRE	kidney:	n/a
48	chr2:48982754-48982804	HEEpiC	esophagus:	n/a
49	chr2:48982957-48983007	HepG2	liver:	n/a
50	chr2:48982832-48982882	AoSMC	blood vessel:	n/a

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:48803645..48806256-chr2:48816244..48817751,2	K562	blood:
2	chr2:48976168..48977940-chr2:48995594..48997620,2	MCF-7	breast:
3	chr2:48938808..48941243-chr2:48942125..48945142,3	K562	blood:
4	chr2:48698168..48698704-chr2:48816044..48816581,2	MCF-7	breast:
5	chr2:48901897..48904285-chr2:48937962..48940671,2	K562	blood:
6	chr2:48901300..48903356-chr2:48907687..48909663,2	K562	blood:
7	chr2:48837425..48839347-chr2:48846973..48850503,3	K562	blood:
8	chr2:48822120..48826399-chr2:48830586..48834373,3	K562	blood:
9	chr2:48904136..48905986-chr2:48910089..48911674,2	K562	blood:
10	chr2:48904136..48905986-chr2:48910089..48911674,2	K562	blood:
11	chr2:48974519..48977429-chr2:49021339..49023541,3	MCF-7	breast:
12	chr2:48826097..48828718-chr2:49093582..49095780,2	K562	blood:
13	chr2:48918966..48921288-chr2:48922320..48925277,2	K562	blood:
14	chr2:48338188..48338961-chr2:48816027..48816580,2	MCF-7	breast:
15	chr2:48793447..48794436-chr2:48816095..48816687,2	K562	blood:
16	chr2:48845784..48847693-chr2:48848992..48850627,2	K562	blood:
17	chr2:48772382..48773067-chr2:48815926..48816979,3	K562	blood:
18	chr2:48955353..48957599-chr2:48959365..48961603,2	MCF-7	breast:
19	chr2:48901897..48904285-chr2:48937962..48940671,2	K562	blood:
20	chr2:48938808..48941243-chr2:48942125..48945142,3	K562	blood:
21	chr2:48936454..48938243-chr2:48948098..48951008,2	MCF-7	breast:
22	chr2:48845784..48847693-chr2:48848992..48850627,2	K562	blood:
23	chr2:48918966..48921288-chr2:48922320..48925277,2	K562	blood:
24	chr2:48697799..48698704-chr2:48819681..48820191,2	MCF-7	breast:
25	chr2:48827557..48828940-chr2:49173265..49174447,4	MCF-7	breast:
26	chr2:48838000..48839540-chr2:48843056..48846037,2	K562	blood:
27	chr2:48947110..48949799-chr2:48950949..48954085,3	K562	blood:
28	chr2:48955353..48957599-chr2:48959365..48961603,2	MCF-7	breast:
29	chr2:48831692..48834380-chr2:48844421..48846212,2	K562	blood:
30	chr2:48828639..48830451-chr2:48830570..48832149,2	K562	blood:
31	chr2:48901300..48903356-chr2:48907687..48909663,2	K562	blood:
32	chr2:48959559..48961435-chr2:48964209..48965937,2	K562	blood:
33	chr2:48899103..48900749-chr2:48945263..48947505,2	MCF-7	breast:
34	chr2:48996460..48999048-chr2:49041792..49043593,2	MCF-7	breast:
35	chr2:48793739..48794249-chr2:48815968..48816646,2	MCF-7	breast:
36	chr1:110595729..110598402-chr2:48919078..48921573,2	MCF-7	breast:
37	chr2:48822120..48826399-chr2:48830586..48834373,3	K562	blood:
38	chr2:48947110..48949799-chr2:48950949..48954085,3	K562	blood:
39	chr2:48947110..48950890-chr2:48950949..48954085,5	K562	blood:
40	chr2:48959559..48961435-chr2:48964209..48965937,2	K562	blood:
41	chr2:48837425..48839347-chr2:48846973..48850503,3	K562	blood:
42	chr2:48827218..48827809-chr2:49717926..49718495,2	MCF-7	breast:
43	chr2:48828639..48830451-chr2:48830570..48832149,2	K562	blood:
44	chr2:48899103..48900749-chr2:48945263..48947505,2	MCF-7	breast:
45	chr2:48793384..48794350-chr2:48816086..48816820,5	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LHCGR-1	chr2:48859428-48860260	NONHSAT070627
2	lnc-LHCGR-1	chr2:48873569-48873753	NONHSAT070627
3	lnc-STON1-GTF2A1L-1	chr2:48996093-48996260	NONHSAT070630
4	lnc-LHCGR-1	chr2:48874168-48874258	NONHSAT070627
5	lnc-LHCGR-1	chr2:48859995-48860492	NONHSAT070628
6	lnc-STON1-GTF2A1L-1	chr2:48996106-48996213	XLOC_001466
7	lnc-STON1-GTF2A1L-1	chr2:48996106-48996213	XLOC_001466
8	lnc-LHCGR-1	chr2:48895709-48895804	NONHSAT070627

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	LHCGR	hsa-miR-148b-3p	chr2:48914407-48914429

Variant related genes	Relation type
TPT1P11	TF binding region
LHCGR	TF binding region
GTF2A1L	TF binding region
STON1-GTF2A1L	TF binding region
TPT1P11	CpG island
LHCGR	CpG island
GTF2A1L	CpG island
STON1-GTF2A1L	CpG island
ENSG00000242441	chromatin interactions
ENSG00000138039	chromatin interactions
ENSG00000068781	chromatin interactions
ENSG00000162869	chromatin interactions
RNF219	miRNA target sites

Extended variants
information (count: 8205 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:8205 , 50 per page) page: 1 2 3 4 5 6 7 ... 165

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181306570	chr2:48814250-48814251	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185829055	chr2:48814267-48814268	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540575904	chr2:48814299-48814300	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13007591	chr2:48814317-48814318	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs529321055	chr2:48814318-48814319	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548373375	chr2:48814321-48814322	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569506412	chr2:48814322-48814323	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530762115	chr2:48814369-48814370	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552033003	chr2:48814373-48814374	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372084846	chr2:48814379-48814380	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570150764	chr2:48814385-48814386	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534631536	chr2:48814398-48814399	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550128570	chr2:48814420-48814421	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551275655	chr2:48814422-48814423	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10557905	chr2:48814423-48814424	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145703367	chr2:48814454-48814455	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535188801	chr2:48814455-48814456	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190671819	chr2:48814463-48814464	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183860938	chr2:48814519-48814520	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113620916	chr2:48814569-48814570	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558502660	chr2:48814579-48814580	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573430696	chr2:48814588-48814589	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540623661	chr2:48814600-48814601	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143683853	chr2:48814629-48814630	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187209205	chr2:48814644-48814645	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562363707	chr2:48814650-48814651	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544297433	chr2:48814658-48814659	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190889982	chr2:48814662-48814663	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182494264	chr2:48814665-48814666	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532927241	chr2:48814696-48814697	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551921056	chr2:48814714-48814715	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564430663	chr2:48814715-48814716	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186934198	chr2:48814721-48814722	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191758903	chr2:48814728-48814729	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546586218	chr2:48814729-48814730	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551196006	chr2:48814730-48814731	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567957749	chr2:48814737-48814738	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535563690	chr2:48814745-48814746	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565543882	chr2:48814748-48814749	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550677163	chr2:48814761-48814762	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568936118	chr2:48814808-48814809	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540059187	chr2:48814818-48814819	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558335652	chr2:48814843-48814844	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573489178	chr2:48814846-48814847	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534216195	chr2:48814853-48814854	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555779842	chr2:48814873-48814874	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368949111	chr2:48814891-48814892	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573930320	chr2:48814900-48814901	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372973227	chr2:48814913-48814914	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11888325	chr2:48814916-48814917	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:96)

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
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
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
small cell lung cancer	20016488	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
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Melanoma	20877625	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1104 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48759000-48827600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:48794400-48827200	Weak transcription	NHDF-Ad	bronchial
3	chr2:48795600-48826000	Weak transcription	Fetal Intestine Small	intestine
4	chr2:48798800-48815600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:48799000-48825800	Weak transcription	HSMMtube	muscle
6	chr2:48804600-48824600	Weak transcription	Fetal Intestine Large	intestine
7	chr2:48804800-48816200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:48807800-48815200	Strong transcription	Fetal Stomach	stomach
9	chr2:48807800-48815400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:48808400-48827600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:48808600-48821200	Weak transcription	Fetal Kidney	kidney
12	chr2:48808600-48834800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:48808800-48821000	Weak transcription	Adipose Nuclei	Adipose
14	chr2:48809000-48821000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:48809000-48824400	Weak transcription	Left Ventricle	heart
16	chr2:48809600-48814600	Weak transcription	Ovary	ovary
17	chr2:48809600-48821000	Weak transcription	Aorta	Aorta
18	chr2:48809600-48827200	Weak transcription	Right Ventricle	heart
19	chr2:48809800-48828600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:48810800-48816400	Enhancers	Placenta	Placenta
21	chr2:48811600-48816400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr2:48811800-48815800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:48812200-48828000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:48812400-48815600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:48812400-48821000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:48812400-48822800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:48812400-48824000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:48812400-48824200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:48812600-48816800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:48812600-48816800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:48813200-48815000	Weak transcription	Brain Germinal Matrix	brain
32	chr2:48813400-48814400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:48813400-48816000	Weak transcription	Brain Anterior Caudate	brain
34	chr2:48813600-48816000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:48813600-48816600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:48813600-48818800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:48813600-48828200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:48813800-48815800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:48813800-48816000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:48813800-48816400	Enhancers	Fetal Muscle Leg	muscle
41	chr2:48814000-48815800	Enhancers	Fetal Muscle Trunk	muscle
42	chr2:48814000-48816200	Weak transcription	Brain Angular Gyrus	brain
43	chr2:48814000-48816200	Weak transcription	Colon Smooth Muscle	Colon
44	chr2:48814000-48835600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:48814200-48814600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:48814200-48815800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr2:48814200-48816000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:48814200-48816000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:48814200-48818800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:48814200-48822200	Weak transcription	Fetal Lung	lung

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