Variant report

Variant	nsv875138
Chromosome Location	chr2:133410921-133761794
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1642)
CpG islands
(count:2199)
Chromatin interactive
region (count:84)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:1642 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:133617193-133617424	HepG2	liver:	n/a	n/a
2	ATF3	chr2:133427676-133428034	H1-hESC	embryonic stem cell:	n/a	chr2:133427843-133427852
3	BACH1	chr2:133428718-133428793	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr2:133573784-133574146	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr2:133427028-133427188	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr2:133653618-133653917	GM12878	blood:	n/a	n/a
7	BCL11A	chr2:133736400-133736844	GM12878	blood:	n/a	n/a
8	BCL11A	chr2:133711370-133711688	GM12878	blood:	n/a	n/a
9	BCL3	chr2:133515343-133515697	GM12878	blood:	n/a	n/a
10	BCL3	chr2:133515389-133515606	GM12878	blood:	n/a	n/a
11	BHLHE40	chr2:133727257-133727412	GM12878	blood:	n/a	n/a
12	BHLHE40	chr2:133736509-133736513	GM12878	blood:	n/a	n/a
13	BHLHE40	chr2:133512674-133512966	GM12878	blood:	n/a	n/a
14	BHLHE40	chr2:133429294-133429379	A549	lung:	n/a	n/a
15	BHLHE40	chr2:133694444-133694688	GM12878	blood:	n/a	n/a
16	BRCA1	chr2:133573154-133573439	Hela-S3	cervix:	n/a	n/a
17	CCNT2	chr2:133676696-133676742	K562	blood:	n/a	n/a
18	CCNT2	chr2:133559502-133559520	K562	blood:	n/a	n/a
19	CEBPB	chr2:133667172-133667379	IMR90	lung:	n/a	n/a
20	CEBPB	chr2:133748993-133749121	Hela-S3	cervix:	n/a	chr2:133749057-133749070 chr2:133749057-133749068 chr2:133749056-133749073 chr2:133749057-133749070 chr2:133749057-133749070
21	CEBPB	chr2:133617861-133618047	HepG2	liver:	n/a	chr2:133617955-133617968 chr2:133617956-133617967
22	CEBPB	chr2:133752159-133752432	IMR90	lung:	n/a	n/a
23	CEBPB	chr2:133488258-133488560	IMR90	lung:	n/a	n/a
24	CEBPB	chr2:133479496-133479909	MCF-7	breast:	n/a	chr2:133479710-133479719 chr2:133479710-133479719 chr2:133479710-133479719 chr2:133479710-133479719 chr2:133479708-133479721
25	CEBPB	chr2:133490761-133491064	A549	lung:	n/a	n/a
26	CEBPB	chr2:133429067-133429427	Hela-S3	cervix:	n/a	chr2:133429153-133429165
27	CEBPB	chr2:133724477-133724677	IMR90	lung:	n/a	n/a
28	CEBPB	chr2:133594699-133595011	A549	lung:	n/a	chr2:133594876-133594887
29	CEBPB	chr2:133490852-133490972	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr2:133617805-133618112	IMR90	lung:	n/a	chr2:133617955-133617968 chr2:133617956-133617967
31	CEBPB	chr2:133594780-133594971	H1-hESC	embryonic stem cell:	n/a	chr2:133594876-133594887
32	CEBPB	chr2:133413788-133413977	HepG2	liver:	n/a	chr2:133413827-133413838 chr2:133413828-133413839 chr2:133413827-133413840 chr2:133413827-133413840
33	CEBPB	chr2:133510118-133510373	A549	lung:	n/a	n/a
34	CEBPB	chr2:133488400-133488477	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr2:133479614-133479773	H1-hESC	embryonic stem cell:	n/a	chr2:133479710-133479719 chr2:133479710-133479719 chr2:133479710-133479719 chr2:133479710-133479719 chr2:133479708-133479721
36	CEBPB	chr2:133427479-133427827	ECC-1	luminal epithelium:	n/a	n/a
37	CEBPB	chr2:133617672-133618194	Hela-S3	cervix:	n/a	chr2:133617955-133617968 chr2:133617956-133617967
38	CEBPB	chr2:133752167-133752449	A549	lung:	n/a	n/a
39	CEBPB	chr2:133527238-133527420	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr2:133448568-133448902	IMR90	lung:	n/a	n/a
41	CEBPB	chr2:133479575-133479815	K562	blood:	n/a	chr2:133479710-133479719 chr2:133479710-133479719 chr2:133479710-133479719 chr2:133479710-133479719 chr2:133479708-133479721
42	CEBPB	chr2:133527279-133527434	IMR90	lung:	n/a	n/a
43	CEBPB	chr2:133490770-133491039	HepG2	liver:	n/a	n/a
44	CEBPB	chr2:133479537-133479893	HepG2	liver:	n/a	chr2:133479710-133479719 chr2:133479710-133479719 chr2:133479710-133479719 chr2:133479710-133479719 chr2:133479708-133479721
45	CEBPB	chr2:133428334-133428645	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr2:133690013-133690065	HepG2	liver:	n/a	chr2:133690026-133690039 chr2:133690028-133690039 chr2:133690026-133690037
47	CEBPB	chr2:133594728-133594998	Hela-S3	cervix:	n/a	chr2:133594876-133594887
48	CEBPB	chr2:133552762-133553103	IMR90	lung:	n/a	n/a
49	CEBPB	chr2:133429099-133429422	ECC-1	luminal epithelium:	n/a	chr2:133429153-133429165
50	CEBPB	chr2:133698906-133699025	HepG2	liver:	n/a	chr2:133698963-133698974

(count:2199 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:133426129-133426179	ovcar-3	ovarian:	n/a
2	chr2:133672682-133672732	PFSK-1	brain:	n/a
3	chr2:133428422-133428472	Jurkat	blood:	n/a
4	chr2:133426129-133426179	ovcar-3	ovarian:	n/a
5	chr2:133672682-133672732	PFSK-1	brain:	n/a
6	chr2:133428422-133428472	Jurkat	blood:	n/a
7	chr2:133427813-133427863	IMR90	lung:	fetal
8	chr2:133428422-133428472	AG09309	skin:	n/a
9	chr2:133429299-133429349	PFSK-1	brain:	n/a
10	chr2:133430560-133430610	T-47D	breast:	n/a
11	chr2:133428502-133428552	HAEpiC	amniotic membrane:	n/a
12	chr2:133670347-133670397	PrEC	prostate:	n/a
13	chr2:133428510-133428560	AG10803	skin:	n/a
14	chr2:133426418-133426468	HAEpiC	amniotic membrane:	n/a
15	chr2:133430523-133430573	PrEC	prostate:	n/a
16	chr2:133428993-133429043	HEEpiC	esophagus:	n/a
17	chr2:133733241-133733291	HCPEpiC	choroid plexus:	n/a
18	chr2:133672682-133672732	K562	blood:	n/a
19	chr2:133428993-133429043	BE2_C	brain:	n/a
20	chr2:133635152-133635202	HPAEpiC	pulmonary alveolar:	n/a
21	chr2:133428523-133428573	ECC-1	luminal epithelium:	n/a
22	chr2:133587191-133587241	HMEC	breast:	n/a
23	chr2:133427612-133427662	H1-hESC	embryonic stem cell:	embryo
24	chr2:133425064-133425114	HepG2	liver:	n/a
25	chr2:133587191-133587241	HEEpiC	esophagus:	n/a
26	chr2:133414633-133414683	BJ	skin:	n/a
27	chr2:133426934-133426984	RPTEC	kidney:	n/a
28	chr2:133427612-133427662	AG09309	skin:	n/a
29	chr2:133430523-133430573	GM12878	blood:	n/a
30	chr2:133587191-133587241	HL-60	blood:	n/a
31	chr2:133428652-133428702	PANC-1	pancreas:	n/a
32	chr2:133428652-133428702	GM12891	blood:	n/a
33	chr2:133635152-133635202	BE2_C	brain:	n/a
34	chr2:133430523-133430573	AG09319	gingival:	n/a
35	chr2:133426934-133426984	HCF	heart:	n/a
36	chr2:133630172-133630222	HUVEC	blood vessel:	n/a
37	chr2:133428523-133428573	U87	brain:	n/a
38	chr2:133429088-133429138	BJ	skin:	n/a
39	chr2:133630172-133630222	BJ	skin:	n/a
40	chr2:133427813-133427863	T-47D	breast:	n/a
41	chr2:133430523-133430573	MCF10A-Er-Src	breast:	n/a
42	chr2:133428836-133428886	PrEC	prostate:	n/a
43	chr2:133429088-133429138	SK-N-SH_RA	brain:	n/a
44	chr2:133427813-133427863	HRE	kidney:	n/a
45	chr2:133428510-133428560	H1-hESC	embryonic stem cell:	embryo
46	chr2:133672682-133672732	PrEC	prostate:	n/a
47	chr2:133428422-133428472	MCF-7	breast:	n/a
48	chr2:133635152-133635202	T-47D	breast:	n/a
49	chr2:133428422-133428472	HCF	heart:	n/a
50	chr2:133428502-133428552	MCF10A-Er-Src	breast:	n/a

(count:84 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:133473952..133476092-chr2:133482509..133484612,2	K562	blood:
2	chr2:133550880..133552525-chr2:133559488..133561560,2	MCF-7	breast:
3	chr2:133536409..133537927-chr2:133542677..133544641,2	K562	blood:
4	chr2:133385017..133387688-chr2:133504938..133507093,2	K562	blood:
5	chr2:133412910..133415477-chr2:133419851..133422133,2	MCF-7	breast:
6	chr2:133474076..133476809-chr2:133480916..133483257,3	MCF-7	breast:
7	chr2:133605601..133608289-chr2:133610152..133612436,2	K562	blood:
8	chr2:133424851..133426510-chr2:133433798..133435548,2	MCF-7	breast:
9	chr2:133529831..133532826-chr2:133534612..133536132,2	K562	blood:
10	chr2:133632988..133635026-chr2:133635332..133637813,2	MCF-7	breast:
11	chr2:133420207..133421735-chr2:133437928..133439428,2	MCF-7	breast:
12	chr2:133595520..133597238-chr2:133598348..133600832,2	K562	blood:
13	chr2:133737097..133739714-chr2:133742077..133743742,2	MCF-7	breast:
14	chr2:133339874..133340573-chr2:133634427..133634936,2	MCF-7	breast:
15	chr2:133339765..133340550-chr2:133641463..133642066,3	MCF-7	breast:
16	chr2:133430925..133433082-chr2:133435117..133437113,2	K562	blood:
17	chr17:59940682..59941405-chr2:133434333..133435173,2	MCF-7	breast:
18	chr2:133430145..133433082-chr2:133435117..133437430,2	K562	blood:
19	chr2:133412013..133414888-chr2:133417480..133419360,2	MCF-7	breast:
20	chr2:133395862..133396428-chr2:133427987..133428958,2	MCF-7	breast:
21	chr2:133581642..133584243-chr2:133588053..133589989,2	K562	blood:
22	chr2:133406755..133409738-chr2:133422944..133424872,2	MCF-7	breast:
23	chr2:133474076..133476809-chr2:133480916..133483257,3	MCF-7	breast:
24	chr2:133498325..133500281-chr2:133500580..133503062,2	MCF-7	breast:
25	chr2:133722484..133724496-chr2:133727279..133729057,2	K562	blood:
26	chr2:133426127..133428450-chr2:133430310..133433501,5	MCF-7	breast:
27	chr2:133722484..133724496-chr2:133727279..133729057,2	K562	blood:
28	chr2:133426909..133430819-chr2:133431884..133436049,6	MCF-7	breast:
29	chr2:133551089..133552887-chr2:133586655..133588378,2	K562	blood:
30	chr2:133525565..133527270-chr2:133534502..133536629,2	K562	blood:
31	chr2:133412628..133415708-chr2:133426870..133429537,5	MCF-7	breast:
32	chr2:133425043..133426903-chr2:133429908..133431486,2	MCF-7	breast:
33	chr2:133632988..133635026-chr2:133635332..133637813,2	MCF-7	breast:
34	chr2:133661857..133663730-chr2:133665052..133667903,2	K562	blood:
35	chr2:133581642..133584243-chr2:133588053..133589989,2	K562	blood:
36	chr2:133428080..133428797-chr2:133928852..133929367,2	MCF-7	breast:
37	chr2:133426777..133428941-chr2:133439028..133441096,3	MCF-7	breast:
38	chr2:133536409..133537927-chr2:133542677..133544641,2	K562	blood:
39	chr2:133556846..133559424-chr2:133561319..133562974,2	MCF-7	breast:
40	chr2:133427176..133428915-chr2:133615683..133617868,2	MCF-7	breast:
41	chr2:133466983..133469956-chr2:133475273..133477903,2	K562	blood:
42	chr2:133473952..133476092-chr2:133482509..133484612,2	K562	blood:
43	chr2:133737097..133739714-chr2:133742077..133743742,2	MCF-7	breast:
44	chr2:133434344..133435258-chr2:133928761..133929306,2	MCF-7	breast:
45	chr2:133710364..133712250-chr2:133715085..133717070,2	K562	blood:
46	chr2:133304259..133305229-chr2:133647133..133647703,2	MCF-7	breast:
47	chr2:133607951..133610816-chr2:133632079..133634420,2	MCF-7	breast:
48	chr2:133422076..133424197-chr2:133633337..133635605,2	MCF-7	breast:
49	chr2:133737230..133740275-chr2:133741296..133743711,3	K562	blood:
50	chr2:133173744..133175513-chr2:133427199..133429009,2	MCF-7	breast:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR39-12	chr2:133742958-133743083	ucscGeneNc_uc002ttu_1
2	lnc-LYPD1-2	chr2:133539513-133539596	NONHSAT074540
3	lnc-GPR39-12	chr2:133742398-133742484	ucscGeneNc_uc002ttu_1
4	lnc-GPR39-1	chr2:133418099-133418153	ENSG00000230065.1
5	lnc-LYPD1-2	chr2:133538625-133538802	NONHSAT074540
6	lnc-GPR39-3	chr2:133673130-133673224	ENSG00000233729.1
7	lnc-GPR39-1	chr2:133424245-133424563	ENSG00000230065.1
8	lnc-GPR39-12	chr2:133741315-133741466	ucscGeneNc_uc002ttu_1
9	lnc-LYPD1-2	chr2:133489522-133489624	NONHSAT074540
10	lnc-GPR39-3	chr2:133687452-133689067	ENSG00000233729.1
11	lnc-GPR39-12	chr2:133740284-133740478	ucscGeneNc_uc002ttu_1

No data

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	NCKAP5	hsa-miR-130b-3p	chr2:133430345-133430365
2	NCKAP5	hsa-miR-19b-3p	chr2:133430352-133430346
3	NCKAP5	hsa-miR-19b-3p	chr2:133430346-133430368
4	NCKAP5	hsa-miR-130b-3p	chr2:133430351-133430345

Variant related genes	Relation type
ENSG00000228721	TF binding region
LYPD1	TF binding region
NCKAP5	TF binding region
ENSG00000233729	TF binding region
ENSG00000230065	TF binding region
ENSG00000228721	CpG island
LYPD1	CpG island
NCKAP5	CpG island
ENSG00000233729	CpG island
ENSG00000230065	CpG island
ENSG00000176771	chromatin interactions
ENSG00000136492	chromatin interactions
ENSG00000183840	chromatin interactions
ENSG00000230065	chromatin interactions
ENSG00000150551	chromatin interactions

Extended variants
information (count: 13254 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:13254 , 50 per page) page: 1 2 3 4 5 6 7 ... 266

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10203672	chr2:133410921-133410922	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534160946	chr2:133410931-133410932	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555622858	chr2:133410955-133410956	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544650752	chr2:133410971-133410972	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573969635	chr2:133411013-133411014	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544907667	chr2:133411030-133411031	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150577334	chr2:133411035-133411036	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181758910	chr2:133411084-133411085	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577570184	chr2:133411096-133411097	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560344089	chr2:133411102-133411103	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186276903	chr2:133411139-133411140	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527827318	chr2:133411174-133411175	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542870232	chr2:133411194-133411195	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184348465	chr2:133411198-133411199	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561088469	chr2:133411204-133411205	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74706444	chr2:133411229-133411230	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10188724	chr2:133411286-133411287	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs549308748	chr2:133411305-133411306	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550058092	chr2:133411307-133411308	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562691177	chr2:133411335-133411336	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533409632	chr2:133411357-133411358	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189712389	chr2:133411374-133411375	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551448697	chr2:133411417-133411418	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566656835	chr2:133411441-133411442	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138594931	chr2:133411458-133411459	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370201245	chr2:133411492-133411493	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112180128	chr2:133411573-133411574	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs386650709	chr2:133411574-133411575	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs68114533	chr2:133411575-133411576	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149295398	chr2:133411692-133411693	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182696774	chr2:133411698-133411699	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556864555	chr2:133411699-133411700	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188167508	chr2:133411700-133411701	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538672952	chr2:133411706-133411707	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78413136	chr2:133411775-133411776	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372279124	chr2:133411808-133411809	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374792147	chr2:133411812-133411813	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144520410	chr2:133411828-133411829	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542759614	chr2:133411834-133411835	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571632539	chr2:133411851-133411852	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576188175	chr2:133411870-133411871	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551230864	chr2:133411871-133411872	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147704275	chr2:133411872-133411873	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538997219	chr2:133411905-133411906	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543347590	chr2:133411949-133411950	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2709528	chr2:133411956-133411957	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs6430371	chr2:133411964-133411965	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145907023	chr2:133411973-133411974	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397836386	chr2:133411975-133411976	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74630840	chr2:133411976-133411977	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:1868 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133390200-133412600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:133390400-133413800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:133390400-133423800	Weak transcription	A549	lung
4	chr2:133403000-133419600	Weak transcription	Fetal Kidney	kidney
5	chr2:133404000-133411400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:133404000-133413800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:133404000-133426000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:133404200-133412600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:133404400-133413600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:133404600-133413600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:133409200-133411000	Weak transcription	HUVEC	blood vessel
12	chr2:133409400-133411000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:133409600-133411000	Enhancers	NH-A	brain
14	chr2:133409600-133411200	Weak transcription	Fetal Brain Male	brain
15	chr2:133409600-133412200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:133410000-133413800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:133410000-133414200	Weak transcription	Brain Germinal Matrix	brain
18	chr2:133410000-133426200	Weak transcription	Osteobl	bone
19	chr2:133410200-133411200	Weak transcription	Brain Substantia Nigra	brain
20	chr2:133410200-133411400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:133410400-133411200	Weak transcription	Brain Anterior Caudate	brain
22	chr2:133410400-133414000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:133410600-133413400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:133410800-133411000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:133410800-133411000	Enhancers	Fetal Brain Female	brain
26	chr2:133410800-133411200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:133410800-133411600	Enhancers	Brain Hippocampus Middle	brain
28	chr2:133410800-133413800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:133411000-133411400	Weak transcription	Fetal Brain Female	brain
30	chr2:133411000-133412200	Strong transcription	HUVEC	blood vessel
31	chr2:133411000-133414800	Weak transcription	NH-A	brain
32	chr2:133411200-133411800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:133411200-133412000	Enhancers	Fetal Brain Male	brain
34	chr2:133411200-133412200	Enhancers	Brain Anterior Caudate	brain
35	chr2:133411200-133412200	Enhancers	Brain Substantia Nigra	brain
36	chr2:133411400-133411600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:133411400-133412000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:133411400-133412200	Enhancers	Brain Angular Gyrus	brain
39	chr2:133411600-133411800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr2:133411600-133412000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:133411600-133416000	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:133411800-133413400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:133411800-133413800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:133412000-133412200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:133412000-133413000	Weak transcription	Fetal Brain Male	brain
46	chr2:133412000-133413400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:133412200-133413000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:133412200-133413400	Weak transcription	Brain Anterior Caudate	brain
49	chr2:133412200-133413800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:133412200-133414000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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