Variant report

Variant	nsv523013
Chromosome Location	chr2:48073117-48146122
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1746)
CpG islands
(count:1161)
Chromatin interactive
region (count:103)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1746 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:48121132-48121218	K562	blood:	n/a	n/a
2	ARID3A	chr2:48133439-48133472	K562	blood:	n/a	n/a
3	ARID3A	chr2:48129574-48130004	K562	blood:	n/a	n/a
4	ARID3A	chr2:48133750-48134910	K562	blood:	n/a	n/a
5	ARID3A	chr2:48131705-48131876	K562	blood:	n/a	n/a
6	ARID3A	chr2:48131289-48131850	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:48085025-48085170	HepG2	liver:	n/a	chr2:48085158-48085166
8	ARID3A	chr2:48133430-48134532	HepG2	liver:	n/a	n/a
9	ARID3A	chr2:48094633-48094833	K562	blood:	n/a	n/a
10	ARID3A	chr2:48085054-48085214	K562	blood:	n/a	chr2:48085158-48085166
11	ATF1	chr2:48133484-48134403	K562	blood:	n/a	n/a
12	ATF2	chr2:48133765-48134329	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr2:48133736-48134421	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr2:48133715-48134374	GM12878	blood:	n/a	n/a
15	ATF2	chr2:48133751-48134428	GM12878	blood:	n/a	n/a
16	ATF3	chr2:48133691-48134386	A549	lung:	n/a	n/a
17	ATF3	chr2:48133743-48134385	A549	lung:	n/a	n/a
18	ATF3	chr2:48133245-48133660	A549	lung:	n/a	n/a
19	ATF3	chr2:48133723-48134315	K562	blood:	n/a	n/a
20	BACH1	chr2:48143649-48143904	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr2:48131786-48132197	H1-hESC	embryonic stem cell:	n/a	n/a
22	BCL11A	chr2:48133782-48134093	GM12878	blood:	n/a	n/a
23	BCL3	chr2:48133716-48134878	A549	lung:	n/a	n/a
24	BCL3	chr2:48133220-48134419	A549	lung:	n/a	n/a
25	BCLAF1	chr2:48133686-48134377	GM12878	blood:	n/a	n/a
26	BCLAF1	chr2:48133710-48134422	GM12878	blood:	n/a	n/a
27	BCLAF1	chr2:48131413-48131942	GM12878	blood:	n/a	n/a
28	BCLAF1	chr2:48133295-48133691	GM12878	blood:	n/a	n/a
29	BHLHE40	chr2:48131647-48131965	K562	blood:	n/a	n/a
30	BHLHE40	chr2:48129398-48129811	K562	blood:	n/a	n/a
31	BHLHE40	chr2:48131603-48131862	GM12878	blood:	n/a	n/a
32	BHLHE40	chr2:48133442-48134743	K562	blood:	n/a	n/a
33	BHLHE40	chr2:48133453-48134330	HepG2	liver:	n/a	n/a
34	BHLHE40	chr2:48133471-48134318	GM12878	blood:	n/a	n/a
35	BHLHE40	chr2:48121210-48121327	K562	blood:	n/a	n/a
36	BHLHE40	chr2:48132652-48132831	GM12878	blood:	n/a	n/a
37	BHLHE40	chr2:48127290-48127298	K562	blood:	n/a	n/a
38	BRCA1	chr2:48132239-48132357	Hela-S3	cervix:	n/a	n/a
39	BRCA1	chr2:48131645-48131756	HepG2	liver:	n/a	n/a
40	BRCA1	chr2:48131726-48131871	GM12878	blood:	n/a	n/a
41	BRCA1	chr2:48133306-48134327	Hela-S3	cervix:	n/a	n/a
42	CBX3	chr2:48133269-48134406	K562	blood:	n/a	n/a
43	CCNT2	chr2:48119659-48119781	K562	blood:	n/a	n/a
44	CCNT2	chr2:48106036-48106225	K562	blood:	n/a	n/a
45	CCNT2	chr2:48134584-48134808	K562	blood:	n/a	n/a
46	CCNT2	chr2:48132212-48134249	K562	blood:	n/a	n/a
47	CEBPB	chr2:48130942-48131248	A549	lung:	n/a	n/a
48	CEBPB	chr2:48074235-48074450	IMR90	lung:	n/a	chr2:48074335-48074346
49	CEBPB	chr2:48083889-48084159	HepG2	liver:	n/a	n/a
50	CEBPB	chr2:48080582-48080908	IMR90	lung:	n/a	n/a

(count:1161 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:48133748-48133798	H1-hESC	embryonic stem cell:	embryo
2	chr2:48102526-48102576	Hela-S3	cervix:	n/a
3	chr2:48133748-48133798	H1-hESC	embryonic stem cell:	embryo
4	chr2:48102526-48102576	Hela-S3	cervix:	n/a
5	chr2:48132755-48132805	AG04450	lung:	fetal
6	chr2:48133748-48133798	HRE	kidney:	n/a
7	chr2:48102526-48102576	ovcar-3	ovarian:	n/a
8	chr2:48117069-48117119	HRE	kidney:	n/a
9	chr2:48132005-48132055	Hela-S3	cervix:	n/a
10	chr2:48097527-48097577	LNCaP	prostate:	n/a
11	chr2:48132755-48132805	ProgFib	skin:	n/a
12	chr2:48094603-48094653	AG10803	skin:	n/a
13	chr2:48132902-48132952	HCT-116	colon:	n/a
14	chr2:48133053-48133103	Hepatocyte	liver:	n/a
15	chr2:48117099-48117149	HCM	heart:	n/a
16	chr2:48133053-48133103	HNPCEpiC	eye:	n/a
17	chr2:48133748-48133798	AG04450	lung:	fetal
18	chr2:48132877-48132927	HEEpiC	esophagus:	n/a
19	chr2:48124557-48124607	AG10803	skin:	n/a
20	chr2:48094603-48094653	PrEC	prostate:	n/a
21	chr2:48132902-48132952	MCF-7	breast:	n/a
22	chr2:48102526-48102576	CMK	blood:	n/a
23	chr2:48102526-48102576	MCF10A-Er-Src	breast:	n/a
24	chr2:48124557-48124607	AG09309	skin:	n/a
25	chr2:48132074-48132124	PrEC	prostate:	n/a
26	chr2:48117069-48117119	HepG2	liver:	n/a
27	chr2:48102526-48102576	T-47D	breast:	n/a
28	chr2:48102526-48102576	NH-A	brain:	n/a
29	chr2:48102526-48102576	SAEC	small airway:	n/a
30	chr2:48133617-48133667	A549	lung:	n/a
31	chr2:48094603-48094653	NT2-D1	testis:	n/a
32	chr2:48117069-48117119	GM12891	blood:	n/a
33	chr2:48132005-48132055	HPAEpiC	pulmonary alveolar:	n/a
34	chr2:48115263-48115313	HUVEC	blood vessel:	n/a
35	chr2:48097527-48097577	HEEpiC	esophagus:	n/a
36	chr2:48132877-48132927	AG10803	skin:	n/a
37	chr2:48132902-48132952	NB4	blood:	n/a
38	chr2:48132880-48132930	AoSMC	blood vessel:	n/a
39	chr2:48097527-48097577	HepG2	liver:	n/a
40	chr2:48133748-48133798	U87	brain:	n/a
41	chr2:48102526-48102576	RPTEC	kidney:	n/a
42	chr2:48117099-48117149	IMR90	lung:	fetal
43	chr2:48115263-48115313	ovcar-3	ovarian:	n/a
44	chr2:48133617-48133667	MCF-7	breast:	n/a
45	chr2:48124557-48124607	SKMC	muscle:	n/a
46	chr2:48094603-48094653	HL-60	blood:	n/a
47	chr2:48132755-48132805	PANC-1	pancreas:	n/a
48	chr2:48097527-48097577	PANC-1	pancreas:	n/a
49	chr2:48117069-48117119	AG04449	skin:	fetal
50	chr2:48132755-48132805	GM12892	blood:	n/a

(count:103 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr19:14628856..14629570-chr2:48133707..48134404,2	Hela-S3	cervix:
2	chr2:48111533..48113899-chr2:48130975..48133874,2	K562	blood:
3	chr2:48079577..48082466-chr2:48083216..48086819,3	K562	blood:
4	chr2:48140078..48142090-chr2:48148120..48150075,2	K562	blood:
5	chr2:48115404..48116936-chr2:48122122..48124133,2	K562	blood:
6	chr2:48096451..48099151-chr2:48102186..48104551,2	MCF-7	breast:
7	chr2:48082764..48087020-chr2:48130453..48135534,7	MCF-7	breast:
8	chr2:48099053..48102786-chr2:48106081..48109104,3	K562	blood:
9	chr2:48008927..48012318-chr2:48131369..48134669,5	MCF-7	breast:
10	chr2:48070745..48074263-chr2:48075364..48078166,3	MCF-7	breast:
11	chr2:48095674..48097230-chr2:48098945..48100649,2	K562	blood:
12	chr2:48114924..48118921-chr2:48119790..48123112,4	K562	blood:
13	chr2:48132210..48134321-chr2:48135283..48136990,2	K562	blood:
14	chr2:48098108..48101004-chr2:48103114..48104989,3	K562	blood:
15	chr2:48087520..48090249-chr2:48098439..48100478,2	MCF-7	breast:
16	chr2:48083338..48085920-chr2:48132296..48135049,2	K562	blood:
17	chr2:48070745..48074263-chr2:48075364..48078166,3	MCF-7	breast:
18	chr2:48086644..48088998-chr2:48097721..48100272,2	K562	blood:
19	chr2:48101529..48104019-chr2:48110699..48112779,2	K562	blood:
20	chr2:48099277..48101061-chr2:48116565..48119523,2	K562	blood:
21	chr2:48123997..48126894-chr2:48127271..48129430,2	MCF-7	breast:
22	chr1:243418189..243419094-chr2:48133534..48134469,2	Hela-S3	cervix:
23	chr2:48119960..48122582-chr2:48132021..48133570,2	K562	blood:
24	chr2:48079577..48082466-chr2:48083216..48086819,3	K562	blood:
25	chr2:48136733..48138949-chr2:48141998..48144158,2	K562	blood:
26	chr2:48087520..48090249-chr2:48098439..48100478,2	MCF-7	breast:
27	chr2:48131056..48133889-chr2:48666649..48669305,2	MCF-7	breast:
28	chr2:48086935..48088638-chr2:48134202..48136137,2	K562	blood:
29	chr2:48109295..48112069-chr2:48114485..48118644,4	K562	blood:
30	chr2:48123308..48125922-chr2:48127457..48129579,2	K562	blood:
31	chr2:48117409..48117947-chr2:48333790..48334356,2	K562	blood:
32	chr2:48109295..48112069-chr2:48114485..48118644,4	K562	blood:
33	chr2:48143444..48146238-chr2:48150670..48152519,2	K562	blood:
34	chr2:48132531..48135272-chr2:48667743..48670607,2	K562	blood:
35	chr2:48120038..48121906-chr2:48131228..48133653,2	MCF-7	breast:
36	chr2:48115563..48118356-chr2:48119790..48121293,2	K562	blood:
37	chr2:48123997..48126894-chr2:48127271..48129430,2	MCF-7	breast:
38	chr2:48094553..48096950-chr2:48122289..48123952,2	K562	blood:
39	chr2:48126711..48130578-chr2:48130920..48134233,4	MCF-7	breast:
40	chr2:48099248..48101963-chr2:48131096..48133771,2	MCF-7	breast:
41	chr2:48132347..48135154-chr2:48137421..48139092,3	K562	blood:
42	chr2:48119960..48122152-chr2:48131992..48133570,2	K562	blood:
43	chr2:48120242..48124269-chr2:48131325..48134393,4	MCF-7	breast:
44	chr2:48134773..48137566-chr2:48254609..48256804,2	K562	blood:
45	chr2:48093751..48095928-chr2:48132112..48133752,2	MCF-7	breast:
46	chr2:48102583..48106295-chr2:48106906..48109315,3	K562	blood:
47	chr2:48084089..48084724-chr2:48333394..48334291,2	MCF-7	breast:
48	chr2:48071695..48073953-chr2:48129717..48131691,2	K562	blood:
49	chr2:48079893..48082466-chr2:48082894..48085745,2	K562	blood:
50	chr2:48091165..48093853-chr2:48095947..48099259,3	MCF-7	breast:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MSH6-2	chr2:48133221-48133298	XLOC_001464
2	lnc-FBXO11-6	chr2:48083943-48084068	NONHSAT070598
3	lnc-MSH6-2	chr2:48134457-48134774	ENSG00000233230.1
4	lnc-MSH6-2	chr2:48133969-48134131	XLOC_001464
5	lnc-MSH6-2	chr2:48133931-48134262	XLOC_001464
6	lnc-MSH6-2	chr2:48134457-48135298	XLOC_001464
7	lnc-MSH6-2	chr2:48134457-48134949	XLOC_001464
8	lnc-MSH6-2	chr2:48134457-48135047	NONHSAT070607
9	lnc-MSH6-2	chr2:48132817-48132938	ENSG00000233230.1
10	lnc-FBXO11-6	chr2:48077359-48077433	NONHSAT070598
11	lnc-MSH6-2	chr2:48134457-48134795	XLOC_001464
12	lnc-MSH6-4	chr2:48110594-48111048	NONHSAT070604
13	lnc-MSH6-2	chr2:48133732-48134131	NONHSAT070607
14	lnc-MSH6-3	chr2:48077476-48077816	NONHSAT070603

No data

Variant related genes	Relation type
FBXO11	TF binding region
ENSG00000236549	TF binding region
ENSG00000233230	TF binding region
FBXO11	CpG island
ENSG00000236549	CpG island
ENSG00000233230	CpG island
ENSG00000222724	chromatin interactions
ENSG00000196866	chromatin interactions
ENSG00000138081	chromatin interactions
ENSG00000143702	chromatin interactions
ENSG00000272663	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000116062	chromatin interactions
ENSG00000078687	chromatin interactions
ENSG00000162869	chromatin interactions
ENSG00000132002	chromatin interactions
ENSG00000233230	chromatin interactions
ENSG00000170802	chromatin interactions
ENSG00000236549	chromatin interactions
HMGCR	miRNA target sites
PAPD5	miRNA target sites
KIAA0895	miRNA target sites

Extended variants
information (count: 3482 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:3482 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2134056	chr2:48073117-48073118	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565448482	chr2:48073232-48073233	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372177890	chr2:48073235-48073236	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547721098	chr2:48073259-48073260	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375509883	chr2:48073279-48073280	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530469615	chr2:48073288-48073289	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541740075	chr2:48073299-48073300	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188519877	chr2:48073305-48073306	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367699191	chr2:48073338-48073339	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144015272	chr2:48073359-48073360	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146425052	chr2:48073369-48073370	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529594846	chr2:48073370-48073371	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550277994	chr2:48073389-48073390	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191615310	chr2:48073436-48073437	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538900116	chr2:48073445-48073446	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553717788	chr2:48073461-48073462	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183865838	chr2:48073470-48073471	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542814886	chr2:48073474-48073475	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530588010	chr2:48073475-48073476	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555102053	chr2:48073519-48073520	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552260065	chr2:48073532-48073533	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140665675	chr2:48073540-48073541	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528170850	chr2:48073541-48073542	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546230666	chr2:48073553-48073554	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187747204	chr2:48073554-48073555	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561060938	chr2:48073567-48073568	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531476079	chr2:48073577-48073578	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34558923	chr2:48073587-48073588	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532722207	chr2:48073604-48073605	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568848863	chr2:48073613-48073614	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559763453	chr2:48073614-48073615	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530254849	chr2:48073622-48073623	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150066298	chr2:48073668-48073669	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567034686	chr2:48073669-48073670	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs17036999	chr2:48073671-48073672	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs143933759	chr2:48073722-48073723	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200324025	chr2:48073724-48073725	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192641126	chr2:48073732-48073733	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183561834	chr2:48073741-48073742	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145394432	chr2:48073749-48073750	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547690382	chr2:48073776-48073777	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186733898	chr2:48073781-48073782	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536459953	chr2:48073799-48073800	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554794668	chr2:48073800-48073801	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2881863	chr2:48073815-48073816	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs146142156	chr2:48073878-48073879	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2881864	chr2:48073881-48073882	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2348246	chr2:48073882-48073883	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536524047	chr2:48073900-48073901	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537531094	chr2:48073952-48073953	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2646 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48043400-48088600	Weak transcription	Pancreas	Pancrea
2	chr2:48048600-48080600	Weak transcription	NHLF	lung
3	chr2:48049200-48096000	Weak transcription	Gastric	stomach
4	chr2:48051600-48073400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:48058200-48074000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:48060200-48093000	Weak transcription	Psoas Muscle	Psoas
7	chr2:48061400-48093800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:48061600-48076000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:48062600-48080800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:48063000-48076000	Weak transcription	Brain Angular Gyrus	brain
11	chr2:48063600-48074400	Weak transcription	Colonic Mucosa	Colon
12	chr2:48063800-48081800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:48063800-48083600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:48064000-48095200	Weak transcription	Spleen	Spleen
15	chr2:48064200-48081800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:48064400-48084800	Weak transcription	NHEK	skin
17	chr2:48065000-48074200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:48065000-48081000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:48065200-48086600	Weak transcription	Fetal Brain Female	brain
20	chr2:48065400-48073200	Weak transcription	Fetal Intestine Small	intestine
21	chr2:48065400-48074000	Weak transcription	Fetal Stomach	stomach
22	chr2:48065400-48098200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:48065400-48114000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:48066000-48085200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:48066000-48097400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:48066000-48100400	Weak transcription	Thymus	Thymus
27	chr2:48066200-48080000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:48066200-48080800	Weak transcription	HSMMtube	muscle
29	chr2:48066200-48084000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:48066200-48085400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:48066200-48094600	Weak transcription	Fetal Kidney	kidney
32	chr2:48066400-48073200	Weak transcription	Brain Germinal Matrix	brain
33	chr2:48066400-48074400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:48066400-48083200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:48066400-48085400	Weak transcription	Osteobl	bone
36	chr2:48066400-48088400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:48066400-48092200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:48066400-48097600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:48066600-48076000	Weak transcription	Liver	Liver
40	chr2:48066800-48073200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:48066800-48074000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:48066800-48074400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:48066800-48076600	Weak transcription	Brain Anterior Caudate	brain
44	chr2:48066800-48080800	Weak transcription	Fetal Lung	lung
45	chr2:48066800-48081000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:48066800-48081400	Weak transcription	NHDF-Ad	bronchial
47	chr2:48066800-48083400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr2:48066800-48083600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:48066800-48084200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr2:48066800-48088400	Weak transcription	Fetal Muscle Leg	muscle

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