Variant report

Variant	nsv532512
Chromosome Location	chr2:54453210-54630755
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1376)
CpG islands
(count:1953)
Chromatin interactive
region (count:75)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1376 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:54616581-54616597	K562	blood:	n/a	n/a
2	ARID3A	chr2:54488738-54489020	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:54461132-54461865	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:54622074-54622134	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:54557555-54557779	K562	blood:	n/a	n/a
6	ARID3A	chr2:54557735-54558115	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:54454959-54455274	K562	blood:	n/a	n/a
8	ARID3A	chr2:54629451-54629642	HepG2	liver:	n/a	n/a
9	ATF1	chr2:54568869-54569169	K562	blood:	n/a	n/a
10	ATF1	chr2:54629535-54629734	K562	blood:	n/a	n/a
11	ATF1	chr2:54535443-54535602	K562	blood:	n/a	n/a
12	ATF1	chr2:54602938-54603180	K562	blood:	n/a	n/a
13	ATF1	chr2:54501879-54502144	K562	blood:	n/a	n/a
14	ATF1	chr2:54491458-54491517	K562	blood:	n/a	n/a
15	ATF1	chr2:54563343-54563371	K562	blood:	n/a	n/a
16	ATF1	chr2:54454950-54455267	K562	blood:	n/a	n/a
17	ATF1	chr2:54482380-54482686	K562	blood:	n/a	n/a
18	ATF2	chr2:54501786-54502174	GM12878	blood:	n/a	n/a
19	ATF2	chr2:54499305-54499795	GM12878	blood:	n/a	n/a
20	ATF3	chr2:54454940-54455289	K562	blood:	n/a	n/a
21	ATF3	chr2:54501826-54502162	K562	blood:	n/a	n/a
22	ATF3	chr2:54482456-54482605	K562	blood:	n/a	n/a
23	BACH1	chr2:54557710-54558038	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr2:54611893-54612112	H1-hESC	embryonic stem cell:	n/a	n/a
25	BATF	chr2:54621543-54621815	GM12878	blood:	n/a	n/a
26	BATF	chr2:54486550-54486907	GM12878	blood:	n/a	n/a
27	BATF	chr2:54486493-54486929	GM12878	blood:	n/a	n/a
28	BCL3	chr2:54557590-54558332	A549	lung:	n/a	chr2:54557737-54557750 chr2:54557960-54557969
29	BHLHE40	chr2:54607915-54608003	K562	blood:	n/a	n/a
30	BHLHE40	chr2:54540387-54540509	K562	blood:	n/a	n/a
31	BHLHE40	chr2:54461298-54461685	HepG2	liver:	n/a	n/a
32	BHLHE40	chr2:54557684-54558363	K562	blood:	n/a	chr2:54557715-54557731
33	BHLHE40	chr2:54498562-54498577	GM12878	blood:	n/a	n/a
34	BRCA1	chr2:54557931-54558047	HepG2	liver:	n/a	n/a
35	BRCA1	chr2:54605223-54605548	H1-hESC	embryonic stem cell:	n/a	n/a
36	BRCA1	chr2:54557995-54558135	Hela-S3	cervix:	n/a	n/a
37	CBX3	chr2:54557393-54558180	K562	blood:	n/a	n/a
38	CBX3	chr2:54483260-54483656	K562	blood:	n/a	n/a
39	CBX3	chr2:54593646-54594026	HCT-116	colon:	n/a	n/a
40	CBX3	chr2:54483150-54483759	K562	blood:	n/a	n/a
41	CBX3	chr2:54464607-54464929	K562	blood:	n/a	n/a
42	CBX3	chr2:54595630-54596125	HCT-116	colon:	n/a	n/a
43	CCNT2	chr2:54557570-54558141	K562	blood:	n/a	n/a
44	CCNT2	chr2:54454895-54455175	K562	blood:	n/a	n/a
45	CEBPB	chr2:54557829-54558057	HepG2	liver:	n/a	n/a
46	CEBPB	chr2:54506513-54506737	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr2:54501801-54502201	IMR90	lung:	n/a	chr2:54502006-54502017
48	CEBPB	chr2:54489322-54489472	A549	lung:	n/a	chr2:54489390-54489401
49	CEBPB	chr2:54527060-54527121	HepG2	liver:	n/a	n/a
50	CEBPB	chr2:54468680-54468841	HepG2	liver:	n/a	chr2:54468766-54468777 chr2:54468777-54468794 chr2:54468778-54468791 chr2:54468778-54468789

(count:1953 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:54479214-54479264	SAEC	small airway:	n/a
2	chr2:54479214-54479264	SAEC	small airway:	n/a
3	chr2:54517167-54517217	HepG2	liver:	n/a
4	chr2:54555541-54555591	NHDF-neo	bronchial:	n/a
5	chr2:54517167-54517217	MCF10A-Er-Src	breast:	n/a
6	chr2:54557974-54558024	AG10803	skin:	n/a
7	chr2:54483193-54483243	HepG2	liver:	n/a
8	chr2:54630332-54630382	HIPEpiC	eye:	n/a
9	chr2:54483619-54483669	HUVEC	blood vessel:	n/a
10	chr2:54558352-54558402	HCPEpiC	choroid plexus:	n/a
11	chr2:54517167-54517217	HCPEpiC	choroid plexus:	n/a
12	chr2:54630332-54630382	AG04449	skin:	fetal
13	chr2:54598593-54598643	ECC-1	luminal epithelium:	n/a
14	chr2:54485712-54485762	U87	brain:	n/a
15	chr2:54483817-54483867	IMR90	lung:	fetal
16	chr2:54611906-54611956	H1-hESC	embryonic stem cell:	embryo
17	chr2:54482841-54482891	HMEC	breast:	n/a
18	chr2:54482475-54482525	PFSK-1	brain:	n/a
19	chr2:54557891-54557941	HL-60	blood:	n/a
20	chr2:54558089-54558139	Caco-2	colon:	n/a
21	chr2:54483498-54483548	ProgFib	skin:	n/a
22	chr2:54485712-54485762	K562	blood:	n/a
23	chr2:54483193-54483243	GM12878	blood:	n/a
24	chr2:54557904-54557954	U87	brain:	n/a
25	chr2:54485712-54485762	PANC-1	pancreas:	n/a
26	chr2:54483498-54483548	HUVEC	blood vessel:	n/a
27	chr2:54611906-54611956	CMK	blood:	n/a
28	chr2:54557902-54557952	HEEpiC	esophagus:	n/a
29	chr2:54483498-54483548	Jurkat	blood:	n/a
30	chr2:54611906-54611956	Hepatocyte	liver:	n/a
31	chr2:54485712-54485762	HL-60	blood:	n/a
32	chr2:54517167-54517217	SK-N-SH_RA	brain:	n/a
33	chr2:54483193-54483243	SK-N-MC	brain:	n/a
34	chr2:54558352-54558402	PrEC	prostate:	n/a
35	chr2:54483433-54483483	A549	lung:	n/a
36	chr2:54555541-54555591	SK-N-SH_RA	brain:	n/a
37	chr2:54598593-54598643	NHDF-neo	bronchial:	n/a
38	chr2:54483433-54483483	K562	blood:	n/a
39	chr2:54483379-54483429	CMK	blood:	n/a
40	chr2:54557904-54557954	HIPEpiC	eye:	n/a
41	chr2:54483433-54483483	HRPEpiC	eye:	n/a
42	chr2:54467214-54467264	GM12878	blood:	n/a
43	chr2:54483379-54483429	ECC-1	luminal epithelium:	n/a
44	chr2:54482475-54482525	HRE	kidney:	n/a
45	chr2:54611906-54611956	MCF-7	breast:	n/a
46	chr2:54482475-54482525	HEEpiC	esophagus:	n/a
47	chr2:54483498-54483548	PrEC	prostate:	n/a
48	chr2:54483498-54483548	HCT-116	colon:	n/a
49	chr2:54557904-54557954	PrEC	prostate:	n/a
50	chr2:54481922-54481972	K562	blood:	n/a

(count:75 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:54483446..54484986-chr2:54498867..54501020,2	K562	blood:
2	chr2:54341887..54343531-chr2:54472985..54475968,2	K562	blood:
3	chr2:54578951..54582305-chr2:54585861..54589772,4	K562	blood:
4	chr2:54578951..54582305-chr2:54585861..54589772,4	K562	blood:
5	chr2:54501016..54503842-chr2:54504791..54507736,2	MCF-7	breast:
6	chr2:54341443..54343043-chr2:54557751..54559883,2	MCF-7	breast:
7	chr2:54590550..54594097-chr2:54603706..54606382,3	K562	blood:
8	chr2:54470373..54472757-chr2:54474538..54476431,2	K562	blood:
9	chr2:54501772..54502741-chr2:54515554..54516142,2	MCF-7	breast:
10	chr2:54466633..54468348-chr2:54481012..54483338,2	K562	blood:
11	chr2:54534452..54537396-chr2:54540353..54542646,2	MCF-7	breast:
12	chr2:54342108..54344179-chr2:54478859..54480893,2	K562	blood:
13	chr2:54495606..54497945-chr2:54499369..54502319,2	K562	blood:
14	chr2:54495606..54497945-chr2:54499369..54502319,2	K562	blood:
15	chr2:54545854..54547406-chr2:54547534..54550529,2	MCF-7	breast:
16	chr2:54570097..54573126-chr2:54573916..54576367,3	K562	blood:
17	chr2:54457083..54460035-chr2:54464183..54466106,2	K562	blood:
18	chr2:54629042..54631678-chr2:54646319..54649301,2	K562	blood:
19	chr2:54341307..54344135-chr2:54557168..54559182,2	K562	blood:
20	chr2:54501772..54502741-chr2:54515554..54516142,2	MCF-7	breast:
21	chr2:53993157..53995066-chr2:54480511..54482787,2	K562	blood:
22	chr2:54197613..54199597-chr2:54572061..54574613,2	K562	blood:
23	chr2:54482506..54484137-chr2:54492737..54494268,2	K562	blood:
24	chr2:54467638..54470177-chr2:54473564..54475270,3	K562	blood:
25	chr2:54569839..54572791-chr2:54629016..54630836,2	K562	blood:
26	chr2:54531334..54533448-chr2:54553590..54555791,2	K562	blood:
27	chr2:54516670..54519099-chr2:54522119..54523673,2	MCF-7	breast:
28	chr2:54465360..54468834-chr2:54480824..54482850,3	K562	blood:
29	chr2:54465360..54468834-chr2:54480824..54482850,3	K562	blood:
30	chr2:54570432..54573126-chr2:54574195..54576367,2	K562	blood:
31	chr2:54501016..54503842-chr2:54504791..54507736,2	MCF-7	breast:
32	chr2:54556162..54557934-chr2:54568229..54570513,2	K562	blood:
33	chr2:54545854..54547406-chr2:54547534..54550529,2	MCF-7	breast:
34	chr2:54587411..54590325-chr2:54591088..54593008,2	MCF-7	breast:
35	chr2:54570432..54573126-chr2:54574195..54576367,2	K562	blood:
36	chr2:54560405..54562674-chr2:54570057..54572627,2	MCF-7	breast:
37	chr2:54570097..54573126-chr2:54573916..54576367,3	K562	blood:
38	chr2:54553431..54555359-chr2:54555675..54557996,2	K562	blood:
39	chr2:54610202..54613159-chr2:54615102..54617874,2	K562	blood:
40	chr2:54483388..54485294-chr2:54487468..54489310,2	K562	blood:
41	chr2:54534452..54537396-chr2:54540353..54542646,2	MCF-7	breast:
42	chr2:54629237..54631678-chr2:54647068..54649301,2	K562	blood:
43	chr2:54340617..54344494-chr2:54480899..54484108,3	K562	blood:
44	chr2:54470373..54472757-chr2:54474538..54476431,2	K562	blood:
45	chr2:54503721..54505972-chr2:54523725..54525740,2	K562	blood:
46	chr2:54483794..54487067-chr2:54487468..54489708,3	K562	blood:
47	chr2:54603833..54605469-chr2:54608187..54610403,2	MCF-7	breast:
48	chr2:54560405..54562674-chr2:54570057..54572627,2	MCF-7	breast:
49	chr2:54516670..54519099-chr2:54522119..54523673,2	MCF-7	breast:
50	chr2:54511470..54513165-chr2:54513322..54515700,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C2orf73-1	chr2:54610581-54610925	XLOC_001473
2	lnc-C2orf73-1	chr2:54609065-54609122	XLOC_001473
3	lnc-C2orf73-1	chr2:54610581-54610879	NONHSAT070733
4	lnc-C2orf73-1	chr2:54608983-54609122	NONHSAT070733
5	lnc-C2orf73-1	chr2:54558124-54558138	NONHSAT070733
6	lnc-C2orf73-1	chr2:54587340-54587408	NONHSAT070733
7	lnc-C2orf73-1	chr2:54587981-54588079	NONHSAT070733

No data

Variant related genes	Relation type
TSPYL6	TF binding region
C2orf73	TF binding region
TSPYL6	CpG island
C2orf73	CpG island
ENSG00000068878	chromatin interactions
ENSG00000143942	chromatin interactions
ENSG00000178021	chromatin interactions
ENSG00000115239	chromatin interactions
ENSG00000177994	chromatin interactions
ENSG00000170634	chromatin interactions

Extended variants
information (count: 6948 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:6948 , 50 per page) page: 1 2 3 4 5 6 7 ... 139

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370600595	chr2:54453269-54453270	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs142525675	chr2:54453275-54453276	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs151006011	chr2:54453287-54453288	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs187104089	chr2:54453288-54453289	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs843762	chr2:54453334-54453335	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs199945532	chr2:54453374-54453375	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs555267673	chr2:54453422-54453423	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs367978017	chr2:54453456-54453457	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs191945244	chr2:54453482-54453483	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs537660226	chr2:54453490-54453491	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs566973283	chr2:54453500-54453501	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs557571684	chr2:54453569-54453570	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs543166757	chr2:54453603-54453604	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs113075721	chr2:54453607-54453608	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs577317798	chr2:54453720-54453721	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs372032899	chr2:54453724-54453725	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs566428381	chr2:54453734-54453735	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs539987749	chr2:54453794-54453795	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs698752	chr2:54453810-54453811	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs572184841	chr2:54453820-54453821	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs543258332	chr2:54453831-54453832	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs181569884	chr2:54453880-54453881	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs140865176	chr2:54453933-54453934	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs144540230	chr2:54453958-54453959	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs565505529	chr2:54453990-54453991	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs185485562	chr2:54453997-54453998	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs116573258	chr2:54454013-54454014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147813070	chr2:54454018-54454019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143864673	chr2:54454086-54454087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530047293	chr2:54454101-54454102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141374572	chr2:54454104-54454105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536529086	chr2:54454230-54454231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568802612	chr2:54454267-54454268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189948193	chr2:54454319-54454320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182506786	chr2:54454341-54454342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147061321	chr2:54454348-54454349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186826984	chr2:54454359-54454360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372968038	chr2:54454391-54454392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs843763	chr2:54454411-54454412	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs578152743	chr2:54454422-54454423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7577156	chr2:54454426-54454427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542632971	chr2:54454432-54454433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556238722	chr2:54454439-54454440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576786578	chr2:54454472-54454473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373050170	chr2:54454477-54454478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566784988	chr2:54454509-54454510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545748483	chr2:54454545-54454546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138233937	chr2:54454559-54454560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527903425	chr2:54454573-54454574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190703851	chr2:54454602-54454603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2051 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54387800-54457400	Weak transcription	Aorta	Aorta
2	chr2:54442200-54456400	Weak transcription	Liver	Liver
3	chr2:54448600-54459400	Weak transcription	Esophagus	oesophagus
4	chr2:54448800-54459400	Weak transcription	HSMM	muscle
5	chr2:54449800-54535200	Weak transcription	Primary T cells from cord blood	blood
6	chr2:54450200-54454600	Weak transcription	Gastric	stomach
7	chr2:54450200-54455800	Weak transcription	Psoas Muscle	Psoas
8	chr2:54450400-54453400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:54451600-54459400	Weak transcription	Left Ventricle	heart
10	chr2:54452400-54453400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:54452400-54453600	Weak transcription	Right Atrium	heart
12	chr2:54452400-54468000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:54452600-54454000	Enhancers	Brain Anterior Caudate	brain
14	chr2:54452800-54490200	Weak transcription	Primary B cells from cord blood	blood
15	chr2:54453000-54453400	Weak transcription	Fetal Heart	heart
16	chr2:54453000-54453800	Active TSS	Brain Cingulate Gyrus	brain
17	chr2:54453000-54454000	Enhancers	Adipose Nuclei	Adipose
18	chr2:54453000-54454000	Enhancers	HepG2	liver
19	chr2:54453000-54454200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:54453000-54456800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:54453200-54453600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:54453200-54453600	Active TSS	Brain Hippocampus Middle	brain
23	chr2:54453200-54453600	Active TSS	Brain Substantia Nigra	brain
24	chr2:54453200-54453600	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr2:54453200-54454000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:54453200-54454000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:54453200-54454000	Enhancers	Fetal Lung	lung
28	chr2:54453200-54454000	Enhancers	HUVEC	blood vessel
29	chr2:54453200-54454400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:54453400-54453600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:54453400-54453600	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr2:54453400-54453600	Enhancers	Fetal Heart	heart
33	chr2:54453400-54453600	Enhancers	HMEC	breast
34	chr2:54453400-54453800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr2:54453400-54453800	Enhancers	Fetal Kidney	kidney
36	chr2:54453400-54453800	Enhancers	Osteobl	bone
37	chr2:54453400-54454000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr2:54453400-54454000	Enhancers	Ovary	ovary
39	chr2:54453600-54453800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr2:54453600-54453800	Weak transcription	Brain Hippocampus Middle	brain
41	chr2:54453600-54453800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr2:54453600-54453800	Flanking Active TSS	Brain Substantia Nigra	brain
43	chr2:54453600-54453800	Enhancers	Right Atrium	heart
44	chr2:54453600-54453800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr2:54453600-54454000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:54453600-54454000	Active TSS	Brain Angular Gyrus	brain
47	chr2:54453600-54454600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:54453600-54455000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:54453600-54455000	Weak transcription	Fetal Heart	heart
50	chr2:54453600-54455800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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