Variant report

Variant	nsv535729
Chromosome Location	chr2:57193127-57901238
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2549)
CpG islands
(count:122)
Chromatin interactive
region (count:79)
LncRNA
region (count:20)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2549 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:57743893-57744250	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:57743917-57744232	K562	blood:	n/a	n/a
3	ATF2	chr2:57763687-57764134	GM12878	blood:	n/a	n/a
4	ATF2	chr2:57763704-57764026	GM12878	blood:	n/a	n/a
5	ATF2	chr2:57743479-57744326	GM12878	blood:	n/a	n/a
6	ATF2	chr2:57743726-57744291	GM12878	blood:	n/a	n/a
7	ATF2	chr2:57743836-57744261	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr2:57677308-57677677	GM12878	blood:	n/a	n/a
9	ATF2	chr2:57776792-57777231	GM12878	blood:	n/a	n/a
10	ATF2	chr2:57677283-57677736	GM12878	blood:	n/a	n/a
11	ATF2	chr2:57743819-57744269	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr2:57776638-57777346	GM12878	blood:	n/a	n/a
13	ATF3	chr2:57600561-57601162	HCT-116	colon:	n/a	n/a
14	ATF3	chr2:57307177-57307600	HCT-116	colon:	n/a	n/a
15	ATF3	chr2:57743851-57744153	K562	blood:	n/a	n/a
16	ATF3	chr2:57307197-57307544	HCT-116	colon:	n/a	n/a
17	BACH1	chr2:57623493-57623938	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr2:57763704-57763928	GM12878	blood:	n/a	n/a
19	BATF	chr2:57677353-57677672	GM12878	blood:	n/a	n/a
20	BATF	chr2:57677301-57677735	GM12878	blood:	n/a	n/a
21	BATF	chr2:57776752-57777212	GM12878	blood:	n/a	n/a
22	BCL11A	chr2:57677351-57677642	GM12878	blood:	n/a	n/a
23	BCL11A	chr2:57844520-57844727	GM12878	blood:	n/a	n/a
24	BCL11A	chr2:57677323-57677668	GM12878	blood:	n/a	n/a
25	BCL3	chr2:57656947-57657199	GM12878	blood:	n/a	n/a
26	BCL3	chr2:57677288-57677769	GM12878	blood:	n/a	n/a
27	BCLAF1	chr2:57776624-57777106	GM12878	blood:	n/a	n/a
28	BHLHE40	chr2:57323040-57323069	K562	blood:	n/a	n/a
29	BHLHE40	chr2:57791916-57792108	GM12878	blood:	n/a	chr2:57792030-57792039 chr2:57792031-57792040 chr2:57792031-57792040
30	BHLHE40	chr2:57677398-57677689	GM12878	blood:	n/a	n/a
31	BHLHE40	chr2:57361927-57361928	GM12878	blood:	n/a	n/a
32	BHLHE40	chr2:57789696-57789785	A549	lung:	n/a	n/a
33	BHLHE40	chr2:57724716-57725005	GM12878	blood:	n/a	n/a
34	BHLHE40	chr2:57540650-57541005	HepG2	liver:	n/a	n/a
35	BHLHE40	chr2:57844449-57844837	GM12878	blood:	n/a	n/a
36	BHLHE40	chr2:57296472-57296568	A549	lung:	n/a	n/a
37	BRCA1	chr2:57625938-57625986	GM12878	blood:	n/a	n/a
38	CBX3	chr2:57307210-57307602	HCT-116	colon:	n/a	n/a
39	CBX3	chr2:57307175-57307529	HCT-116	colon:	n/a	n/a
40	CBX3	chr2:57570484-57570977	HCT-116	colon:	n/a	n/a
41	CBX3	chr2:57600551-57601256	HCT-116	colon:	n/a	n/a
42	CEBPB	chr2:57560455-57560691	HepG2	liver:	n/a	n/a
43	CEBPB	chr2:57886682-57886998	HepG2	liver:	n/a	chr2:57886823-57886834
44	CEBPB	chr2:57670883-57671690	HCT-116	colon:	n/a	chr2:57671434-57671445
45	CEBPB	chr2:57743855-57744255	ECC-1	luminal epithelium:	n/a	n/a
46	CEBPB	chr2:57281660-57281670	K562	blood:	n/a	n/a
47	CEBPB	chr2:57315693-57315923	A549	lung:	n/a	chr2:57315794-57315805
48	CEBPB	chr2:57384305-57384368	HepG2	liver:	n/a	n/a
49	CEBPB	chr2:57721113-57721472	A549	lung:	n/a	chr2:57721288-57721299
50	CEBPB	chr2:57686952-57687247	HepG2	liver:	n/a	chr2:57687072-57687083

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:57634837-57634887	Hela-S3	cervix:	n/a
2	chr2:57765322-57765372	HMEC	breast:	n/a
3	chr2:57634837-57634887	HNPCEpiC	eye:	n/a
4	chr2:57765322-57765372	HepG2	liver:	n/a
5	chr2:57634837-57634887	MCF10A-Er-Src	breast:	n/a
6	chr2:57634837-57634887	GM12891	blood:	n/a
7	chr2:57765322-57765372	PrEC	prostate:	n/a
8	chr2:57634837-57634887	AG10803	skin:	n/a
9	chr2:57634837-57634887	NB4	blood:	n/a
10	chr2:57765322-57765372	T-47D	breast:	n/a
11	chr2:57765322-57765372	K562	blood:	n/a
12	chr2:57634837-57634887	GM06990	blood:	n/a
13	chr2:57765322-57765372	ECC-1	luminal epithelium:	n/a
14	chr2:57634837-57634887	Caco-2	colon:	n/a
15	chr2:57634837-57634887	HRE	kidney:	n/a
16	chr2:57634837-57634887	A549	lung:	n/a
17	chr2:57765322-57765372	SK-N-SH	brain:	n/a
18	chr2:57634837-57634887	HMEC	breast:	n/a
19	chr2:57634837-57634887	NT2-D1	testis:	n/a
20	chr2:57765322-57765372	HL-60	blood:	n/a
21	chr2:57765322-57765372	AG09309	skin:	n/a
22	chr2:57765322-57765372	HUVEC	blood vessel:	n/a
23	chr2:57765322-57765372	H1-hESC	embryonic stem cell:	embryo
24	chr2:57765322-57765372	Caco-2	colon:	n/a
25	chr2:57765322-57765372	HIPEpiC	eye:	n/a
26	chr2:57765322-57765372	AG04449	skin:	fetal
27	chr2:57765322-57765372	SKMC	muscle:	n/a
28	chr2:57634837-57634887	RPTEC	kidney:	n/a
29	chr2:57634837-57634887	SK-N-MC	brain:	n/a
30	chr2:57765322-57765372	CMK	blood:	n/a
31	chr2:57765322-57765372	SK-N-MC	brain:	n/a
32	chr2:57765322-57765372	GM12878	blood:	n/a
33	chr2:57765322-57765372	A549	lung:	n/a
34	chr2:57765322-57765372	GM19239	blood:	n/a
35	chr2:57765322-57765372	HNPCEpiC	eye:	n/a
36	chr2:57634837-57634887	HL-60	blood:	n/a
37	chr2:57634837-57634887	HEK293	kidney:	embryo
38	chr2:57634837-57634887	AoSMC	blood vessel:	n/a
39	chr2:57765322-57765372	AoSMC	blood vessel:	n/a
40	chr2:57765322-57765372	HCM	heart:	n/a
41	chr2:57634837-57634887	LNCaP	prostate:	n/a
42	chr2:57765322-57765372	NB4	blood:	n/a
43	chr2:57634837-57634887	HEEpiC	esophagus:	n/a
44	chr2:57634837-57634887	SK-N-SH	brain:	n/a
45	chr2:57634837-57634887	AG04450	lung:	fetal
46	chr2:57634837-57634887	NHBE	bronchial:	n/a
47	chr2:57634837-57634887	HPAEpiC	pulmonary alveolar:	n/a
48	chr2:57634837-57634887	PrEC	prostate:	n/a
49	chr2:57634837-57634887	SAEC	small airway:	n/a
50	chr2:57765322-57765372	IMR90	lung:	fetal

(count:79 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:57631506..57633055-chr2:57645760..57647304,2	MCF-7	breast:
2	chr2:56409714..56412670-chr2:57741960..57744837,3	MCF-7	breast:
3	chr2:57835362..57837031-chr2:57842743..57844296,2	MCF-7	breast:
4	chr2:50393423..50394149-chr2:57299588..57300484,2	MCF-7	breast:
5	chr2:57359385..57360901-chr2:57363055..57366048,2	MCF-7	breast:
6	chr2:57850261..57851990-chr2:57852642..57855006,2	K562	blood:
7	chr2:57631506..57633055-chr2:57645760..57647304,2	MCF-7	breast:
8	chr2:57298072..57298949-chr7:67013799..67014465,2	MCF-7	breast:
9	chr2:57835362..57837031-chr2:57842743..57844296,2	MCF-7	breast:
10	chr2:57705830..57708555-chr2:57710659..57712382,2	MCF-7	breast:
11	chr2:57680802..57681722-chr2:57724395..57725159,3	MCF-7	breast:
12	chr2:56412160..56413674-chr2:57559267..57562168,2	MCF-7	breast:
13	chr2:57669021..57671005-chr2:57673900..57675904,2	K562	blood:
14	chr2:57275015..57275515-chr9:135897506..135898082,2	MCF-7	breast:
15	chr2:57633446..57635721-chr2:57643662..57645382,2	MCF-7	breast:
16	chr2:57011309..57011934-chr2:57604188..57604743,2	MCF-7	breast:
17	chr2:57669021..57671005-chr2:57673900..57675904,2	K562	blood:
18	chr2:57670502..57672263-chr2:57675373..57678104,2	MCF-7	breast:
19	chr2:57395336..57397407-chr2:57403214..57404804,2	MCF-7	breast:
20	chr2:57627476..57629537-chr2:57644280..57646195,2	MCF-7	breast:
21	chr2:57602104..57602641-chr2:57724502..57725135,2	MCF-7	breast:
22	chr2:57726830..57729165-chr2:57729921..57733736,3	K562	blood:
23	chr2:57726879..57729165-chr2:57731131..57733736,2	K562	blood:
24	chr2:57309801..57312500-chr2:57313218..57315578,2	K562	blood:
25	chr2:57794327..57795954-chr2:57796915..57799788,2	K562	blood:
26	chr2:57584628..57586577-chr2:57587736..57590174,2	K562	blood:
27	chr2:57627476..57629537-chr2:57644280..57646195,2	MCF-7	breast:
28	chr2:57271966..57274864-chr2:57279290..57282251,2	K562	blood:
29	chr2:57603431..57604465-chr2:57724481..57725285,5	MCF-7	breast:
30	chr2:57271966..57274864-chr2:57279290..57282251,2	K562	blood:
31	chr2:57540667..57542939-chr2:57544069..57546908,2	K562	blood:
32	chr2:57359385..57360901-chr2:57363055..57366048,2	MCF-7	breast:
33	chr2:57037052..57037562-chr2:57367504..57368073,2	MCF-7	breast:
34	chr2:57724780..57726357-chr2:57726897..57728575,2	MCF-7	breast:
35	chr2:57232953..57235028-chr2:57238339..57240137,2	K562	blood:
36	chr2:57670502..57672263-chr2:57675373..57678104,2	MCF-7	breast:
37	chr2:57361348..57363716-chr2:57369753..57372552,2	K562	blood:
38	chr2:56357220..56358069-chr2:57743520..57744164,2	MCF-7	breast:
39	chr2:57686552..57689405-chr2:57735534..57737911,2	K562	blood:
40	chr2:56410841..56411352-chr2:57724378..57725263,2	K562	blood:
41	chr2:57486573..57488689-chr2:57490397..57492047,2	K562	blood:
42	chr2:57695038..57697832-chr2:57697917..57700071,2	MCF-7	breast:
43	chr2:57309801..57312500-chr2:57313218..57315578,2	K562	blood:
44	chr2:57602104..57602641-chr2:57724502..57725135,2	MCF-7	breast:
45	chr2:57603431..57604465-chr2:57724481..57725285,5	MCF-7	breast:
46	chr2:57486573..57488689-chr2:57490397..57492047,2	K562	blood:
47	chr2:57195854..57197711-chr2:57199623..57201221,2	MCF-7	breast:
48	chr2:57800058..57801669-chr2:57807424..57809542,2	K562	blood:
49	chr2:57361348..57363716-chr2:57369753..57372552,2	K562	blood:
50	chr2:57232953..57235028-chr2:57238339..57240137,2	K562	blood:

(count:20 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FANCL-8	chr2:57656683-57656947	NONHSAT070833
2	lnc-FANCL-8	chr2:57657275-57657340	NONHSAT070833
3	lnc-FANCL-2	chr2:57542599-57542640	XLOC_002102
4	lnc-FANCL-7	chr2:57826063-57826269	uc_51_-
5	lnc-VRK2-12	chr2:57826063-57826269	uc_51_+
6	lnc-VRK2-4	chr2:57425380-57425788	ENSG00000255922
7	lnc-VRK2-13	chr2:57803525-57803591	l_1838_chr2:57801423-57806788_testes
8	lnc-VRK2-16	chr2:57659475-57659520	NONHSAT070834
9	lnc-FANCL-2	chr2:57542598-57542640	NONHSAT070831
10	lnc-VRK2-13	chr2:57806334-57806788	l_1838_chr2:57801423-57806788_testes
11	lnc-VRK2-15	chr2:57781956-57782430	l_1837_chr2:57781955-57793820_testes
12	lnc-VRK2-15	chr2:57793606-57793820	l_1837_chr2:57781955-57793820_testes
13	lnc-VRK2-13	chr2:57801424-57801615	l_1838_chr2:57801423-57806788_testes
14	lnc-VRK2-4	chr2:57422543-57422644	ENSG00000255922
15	lnc-FANCL-8	chr2:57657781-57657828	NONHSAT070833
16	lnc-VRK2-15	chr2:57787062-57787228	l_1837_chr2:57781955-57793820_testes
17	lnc-FANCL-2	chr2:57541338-57541655	XLOC_002102
18	lnc-FANCL-2	chr2:57541337-57541655	NONHSAT070831
19	lnc-VRK2-16	chr2:57672949-57673194	NONHSAT070834
20	lnc-VRK2-4	chr2:57419954-57420014	ENSG00000255922

No data

Variant related genes	Relation type
ENSG00000271115	TF binding region
ENSG00000238690	TF binding region
ENSG00000212168	TF binding region
ENSG00000270569	TF binding region
ENSG00000271115	CpG island
ENSG00000238690	CpG island
ENSG00000212168	CpG island
ENSG00000270569	CpG island
ENSG00000055813	chromatin interactions
ENSG00000233251	chromatin interactions
SPRY4	miRNA target sites
TSC1	miRNA target sites

Extended variants
information (count: 10108 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:10108 , 50 per page) page: 1 2 3 4 5 6 7 ... 203

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539750070	chr2:57193641-57193642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373998865	chr2:57193642-57193643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368109926	chr2:57193648-57193649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17048562	chr2:57193680-57193681	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541549665	chr2:57193706-57193707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180766072	chr2:57193731-57193732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183707800	chr2:57193753-57193754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1318764	chr2:57193758-57193759	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs189312536	chr2:57193841-57193842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11888362	chr2:57193872-57193873	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529647596	chr2:57193887-57193888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368377307	chr2:57193904-57193905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552126946	chr2:57194014-57194015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs60562169	chr2:57194015-57194016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546201884	chr2:57194023-57194024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs397957788	chr2:57194026-57194027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568555144	chr2:57194027-57194028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181286814	chr2:57194038-57194039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375997792	chr2:57194047-57194048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528509327	chr2:57194053-57194054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186358924	chr2:57194083-57194084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562209887	chr2:57194091-57194092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531014002	chr2:57194095-57194096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191666288	chr2:57194101-57194102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369145974	chr2:57194110-57194111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564274360	chr2:57194114-57194115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138079483	chr2:57194125-57194126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546614236	chr2:57194161-57194162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566739640	chr2:57194168-57194169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570537008	chr2:57194206-57194207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548562170	chr2:57194208-57194209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568474964	chr2:57194371-57194372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78754865	chr2:57194377-57194378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557404531	chr2:57194384-57194385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577040024	chr2:57194401-57194402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371762174	chr2:57194427-57194428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376802978	chr2:57194442-57194443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540007180	chr2:57194443-57194444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181587383	chr2:57194475-57194476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186140443	chr2:57194496-57194497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149517894	chr2:57194538-57194539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190799306	chr2:57194585-57194586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575661191	chr2:57194586-57194587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183396720	chr2:57194601-57194602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7594039	chr2:57194617-57194618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs144027998	chr2:57194647-57194648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562780529	chr2:57194676-57194677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531485654	chr2:57194688-57194689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551281831	chr2:57194730-57194731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79257741	chr2:57194754-57194755	Weak transcription	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57193600-57194400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:57193600-57194400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr2:57193600-57194400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:57194200-57194400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:57194400-57196200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:57194400-57196200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:57194400-57196200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:57196200-57196600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:57196200-57196600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:57196200-57196800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:57196200-57196800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:57196200-57197600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:57198400-57199800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:57208400-57208800	Enhancers	HSMM	muscle
15	chr2:57263000-57263400	Enhancers	Pancreas	Pancrea
16	chr2:57266600-57267000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:57272200-57272800	Enhancers	Brain Angular Gyrus	brain
18	chr2:57272200-57273000	Enhancers	Brain Cingulate Gyrus	brain
19	chr2:57272400-57272800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:57272400-57272800	Enhancers	Brain Substantia Nigra	brain
21	chr2:57273600-57274000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:57302000-57302400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:57302000-57303000	Enhancers	NHEK	skin
24	chr2:57302200-57302600	Enhancers	HMEC	breast
25	chr2:57302400-57304600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:57304600-57307000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:57306800-57307400	Enhancers	A549	lung
28	chr2:57307000-57307400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:57311200-57311800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:57332200-57333600	Enhancers	Fetal Intestine Large	intestine
31	chr2:57332400-57332600	Enhancers	Liver	Liver
32	chr2:57332800-57334000	Weak transcription	Liver	Liver
33	chr2:57333600-57334600	Weak transcription	Fetal Intestine Large	intestine
34	chr2:57334000-57335200	Enhancers	Liver	Liver
35	chr2:57334600-57334800	Enhancers	Fetal Intestine Large	intestine
36	chr2:57343800-57344400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr2:57353800-57354400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:57367800-57369200	Enhancers	Primary hematopoietic stem cells	blood
39	chr2:57369800-57370400	Enhancers	Muscle Satellite Cultured Cells	--
40	chr2:57383000-57383400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:57383200-57383800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr2:57383200-57384000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:57383600-57384400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr2:57383800-57384000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr2:57383800-57384200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
46	chr2:57384000-57385000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:57385000-57385400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr2:57387600-57389600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr2:57388000-57389400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr2:57389400-57390400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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