Variant report

Variant	nsv873247
Chromosome Location	chr1:227697381-227736363
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:227730233-227730582	HepG2	liver:	n/a	n/a
2	ATF1	chr1:227707460-227707741	K562	blood:	n/a	n/a
3	ATF1	chr1:227706661-227706942	K562	blood:	n/a	n/a
4	ATF1	chr1:227714227-227714537	K562	blood:	n/a	n/a
5	ATF3	chr1:227730280-227730533	HepG2	liver:	n/a	n/a
6	ATF3	chr1:227730265-227730458	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr1:227730265-227730578	A549	lung:	n/a	n/a
8	ATF3	chr1:227714272-227714527	K562	blood:	n/a	n/a
9	BACH1	chr1:227730325-227730695	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr1:227729795-227729933	H1-hESC	embryonic stem cell:	n/a	n/a
11	BATF	chr1:227700860-227701014	GM12878	blood:	n/a	n/a
12	BATF	chr1:227700853-227701013	GM12878	blood:	n/a	n/a
13	BCLAF1	chr1:227730178-227730678	GM12878	blood:	n/a	chr1:227730489-227730498 chr1:227730564-227730577 chr1:227730480-227730493 chr1:227730281-227730294 chr1:227730423-227730436
14	BCLAF1	chr1:227730284-227730600	GM12878	blood:	n/a	chr1:227730489-227730498 chr1:227730564-227730577 chr1:227730480-227730493 chr1:227730423-227730436
15	BHLHE40	chr1:227698710-227698928	K562	blood:	n/a	n/a
16	BHLHE40	chr1:227730171-227730642	GM12878	blood:	n/a	n/a
17	BHLHE40	chr1:227720180-227720273	K562	blood:	n/a	n/a
18	BHLHE40	chr1:227707483-227707580	K562	blood:	n/a	n/a
19	BRCA1	chr1:227730337-227730592	H1-hESC	embryonic stem cell:	n/a	n/a
20	CBX3	chr1:227719754-227720329	K562	blood:	n/a	n/a
21	CCNT2	chr1:227714263-227714522	K562	blood:	n/a	n/a
22	CCNT2	chr1:227720070-227720270	K562	blood:	n/a	n/a
23	CEBPB	chr1:227730278-227730529	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr1:227714275-227714539	K562	blood:	n/a	n/a
25	CEBPB	chr1:227731292-227731512	A549	lung:	n/a	chr1:227731344-227731355 chr1:227731343-227731354
26	CEBPB	chr1:227714266-227714448	K562	blood:	n/a	n/a
27	CEBPB	chr1:227731209-227731525	HepG2	liver:	n/a	chr1:227731344-227731355 chr1:227731343-227731354
28	CEBPB	chr1:227707135-227707359	HepG2	liver:	n/a	n/a
29	CEBPB	chr1:227714425-227714499	HepG2	liver:	n/a	n/a
30	CEBPB	chr1:227731236-227731513	IMR90	lung:	n/a	chr1:227731344-227731355 chr1:227731343-227731354
31	CEBPB	chr1:227721017-227721152	K562	blood:	n/a	chr1:227721086-227721097 chr1:227721086-227721099 chr1:227721086-227721099
32	CEBPB	chr1:227714218-227714599	K562	blood:	n/a	n/a
33	CEBPB	chr1:227707212-227707389	A549	lung:	n/a	n/a
34	CHD1	chr1:227730043-227730074	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr1:227730303-227730617	H1-hESC	embryonic stem cell:	n/a	chr1:227730483-227730493
36	CHD2	chr1:227730120-227730582	HepG2	liver:	n/a	chr1:227730483-227730493
37	CHD2	chr1:227730240-227730628	GM12878	blood:	n/a	chr1:227730483-227730493
38	CREB1	chr1:227730189-227730582	A549	lung:	n/a	n/a
39	CTBP2	chr1:227729350-227730742	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr1:227729740-227729890	HVMF	connective:	n/a	n/a
41	CTCF	chr1:227730076-227730187	GM10266	blood:	n/a	n/a
42	CTCF	chr1:227730307-227730551	MCF-7	breast:	n/a	chr1:227730411-227730420 chr1:227730406-227730422 chr1:227730407-227730420 chr1:227730400-227730421 chr1:227730410-227730423 chr1:227730408-227730418 chr1:227730405-227730423 chr1:227730424-227730437 chr1:227730407-227730420
43	CTCF	chr1:227730100-227730250	NHDF-neo	bronchial:	n/a	n/a
44	CTCF	chr1:227730380-227730530	AG09319	gingival:	n/a	chr1:227730411-227730420 chr1:227730406-227730422 chr1:227730407-227730420 chr1:227730400-227730421 chr1:227730410-227730423 chr1:227730408-227730418 chr1:227730405-227730423 chr1:227730424-227730437 chr1:227730407-227730420
45	CTCF	chr1:227730440-227730590	K562	blood:	n/a	n/a
46	CTCF	chr1:227730360-227730510	HEK293	kidney:	n/a	chr1:227730411-227730420 chr1:227730406-227730422 chr1:227730407-227730420 chr1:227730400-227730421 chr1:227730410-227730423 chr1:227730408-227730418 chr1:227730405-227730423 chr1:227730424-227730437 chr1:227730407-227730420
47	CTCF	chr1:227730380-227730530	HRPEpiC	eye:	n/a	chr1:227730411-227730420 chr1:227730406-227730422 chr1:227730407-227730420 chr1:227730400-227730421 chr1:227730410-227730423 chr1:227730408-227730418 chr1:227730405-227730423 chr1:227730424-227730437 chr1:227730407-227730420
48	CTCF	chr1:227730340-227730490	GM12867	blood:	n/a	chr1:227730411-227730420 chr1:227730406-227730422 chr1:227730407-227730420 chr1:227730400-227730421 chr1:227730410-227730423 chr1:227730408-227730418 chr1:227730405-227730423 chr1:227730424-227730437 chr1:227730407-227730420
49	CTCF	chr1:227730640-227730790	AG09309	skin:	n/a	n/a
50	CTCF	chr1:227730060-227730210	GM12874	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:227730820-227730870	AG04450	lung:	fetal
2	chr1:227730491-227730541	SK-N-SH	brain:	n/a
3	chr1:227729906-227729956	ECC-1	luminal epithelium:	n/a
4	chr1:227729680-227729730	T-47D	breast:	n/a
5	chr1:227729463-227729513	HCF	heart:	n/a
6	chr1:227726508-227726558	Hela-S3	cervix:	n/a
7	chr1:227729463-227729513	AG10803	skin:	n/a
8	chr1:227728774-227728824	HEEpiC	esophagus:	n/a
9	chr1:227726508-227726558	H1-hESC	embryonic stem cell:	embryo
10	chr1:227733522-227733572	A549	lung:	n/a
11	chr1:227730308-227730358	CMK	blood:	n/a
12	chr1:227726508-227726558	RPTEC	kidney:	n/a
13	chr1:227729906-227729956	AG04449	skin:	fetal
14	chr1:227730308-227730358	HIPEpiC	eye:	n/a
15	chr1:227730881-227730931	AG04449	skin:	fetal
16	chr1:227729463-227729513	ovcar-3	ovarian:	n/a
17	chr1:227729463-227729513	HUVEC	blood vessel:	n/a
18	chr1:227730881-227730931	HRPEpiC	eye:	n/a
19	chr1:227733522-227733572	AG04450	lung:	fetal
20	chr1:227730820-227730870	Jurkat	blood:	n/a
21	chr1:227730308-227730358	BE2_C	brain:	n/a
22	chr1:227730308-227730358	HRPEpiC	eye:	n/a
23	chr1:227730308-227730358	Hepatocyte	liver:	n/a
24	chr1:227729598-227729648	HRCEpiC	kidney:	n/a
25	chr1:227730820-227730870	AG10803	skin:	n/a
26	chr1:227728774-227728824	HL-60	blood:	n/a
27	chr1:227733522-227733572	SK-N-SH	brain:	n/a
28	chr1:227733522-227733572	PrEC	prostate:	n/a
29	chr1:227729906-227729956	GM12892	blood:	n/a
30	chr1:227728774-227728824	H1-hESC	embryonic stem cell:	embryo
31	chr1:227730881-227730931	RPTEC	kidney:	n/a
32	chr1:227726508-227726558	ProgFib	skin:	n/a
33	chr1:227726508-227726558	GM12892	blood:	n/a
34	chr1:227729680-227729730	ovcar-3	ovarian:	n/a
35	chr1:227730491-227730541	HRE	kidney:	n/a
36	chr1:227729598-227729648	AoSMC	blood vessel:	n/a
37	chr1:227733522-227733572	K562	blood:	n/a
38	chr1:227730491-227730541	Jurkat	blood:	n/a
39	chr1:227726508-227726558	SK-N-MC	brain:	n/a
40	chr1:227729680-227729730	NT2-D1	testis:	n/a
41	chr1:227729906-227729956	NHBE	bronchial:	n/a
42	chr1:227729906-227729956	MCF-7	breast:	n/a
43	chr1:227729598-227729648	Jurkat	blood:	n/a
44	chr1:227729463-227729513	HL-60	blood:	n/a
45	chr1:227733522-227733572	HL-60	blood:	n/a
46	chr1:227728774-227728824	T-47D	breast:	n/a
47	chr1:227730881-227730931	Hela-S3	cervix:	n/a
48	chr1:227730881-227730931	MCF-7	breast:	n/a
49	chr1:227729906-227729956	A549	lung:	n/a
50	chr1:227730491-227730541	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:227721537..227724263-chr1:227727527..227730135,2	MCF-7	breast:
2	chr1:227700137..227701945-chr1:227703714..227706435,2	MCF-7	breast:
3	chr1:227733965..227736657-chr1:227743143..227745274,2	K562	blood:
4	chr1:227726703..227728573-chr1:227729012..227731358,2	K562	blood:
5	chr1:227728970..227731707-chr1:227751101..227754291,3	MCF-7	breast:
6	chr1:227727960..227729815-chr1:228131832..228133962,2	MCF-7	breast:
7	chr1:227728577..227730296-chr1:227730401..227732480,2	MCF-7	breast:
8	chr1:227725578..227727494-chr1:227729728..227731720,2	MCF-7	breast:
9	chr1:227699513..227702199-chr1:227720616..227723558,2	K562	blood:
10	chr1:227725139..227726773-chr1:227727190..227729662,2	K562	blood:
11	chr1:227718832..227721414-chr1:227723108..227725782,2	K562	blood:
12	chr1:227699513..227702199-chr1:227720616..227723558,2	K562	blood:
13	chr1:227729010..227735281-chr1:227748522..227752811,6	MCF-7	breast:
14	chr1:227704941..227707226-chr1:227710980..227713652,2	K562	blood:
15	chr1:227721537..227724263-chr1:227727527..227730135,2	MCF-7	breast:
16	chr1:227696113..227699015-chr1:227705081..227707461,4	K562	blood:
17	chr1:227704941..227707226-chr1:227710980..227713652,2	K562	blood:
18	chr1:227729455..227731523-chr1:227733555..227735249,2	K562	blood:
19	chr1:227724940..227726791-chr1:227731403..227734272,2	K562	blood:
20	chr1:227725436..227728346-chr1:227728933..227731230,4	MCF-7	breast:
21	chr1:227725578..227727494-chr1:227729728..227731720,2	MCF-7	breast:
22	chr1:227733749..227736446-chr1:227749685..227751475,2	K562	blood:
23	chr1:227696655..227700997-chr1:227705079..227707461,4	K562	blood:
24	chr1:227718832..227721414-chr1:227723108..227725782,2	K562	blood:
25	chr1:227700137..227701945-chr1:227703714..227706435,2	MCF-7	breast:
26	chr1:227727749..227729472-chr1:227739111..227740675,2	K562	blood:
27	chr1:227695645..227697944-chr1:227752053..227753592,2	K562	blood:
28	chr1:227725436..227728346-chr1:227728933..227731230,4	MCF-7	breast:
29	chr1:227727685..227728349-chr18:13120..13866,2	MCF-7	breast:
30	chr1:227724940..227726791-chr1:227731403..227734272,2	K562	blood:
31	chr1:227728158..227729940-chr1:227914897..227917653,2	MCF-7	breast:
32	chr1:227735428..227737258-chr1:227773777..227776402,2	K562	blood:
33	chr1:227730297..227731134-chr12:34260025..34260625,2	MCF-7	breast:
34	chr1:227729455..227731523-chr1:227733555..227735249,2	K562	blood:
35	chr1:227726703..227728573-chr1:227729012..227731358,2	K562	blood:
36	chr1:227696113..227699015-chr1:227705081..227707461,4	K562	blood:
37	chr1:227705164..227707099-chr1:227922346..227924920,2	MCF-7	breast:
38	chr1:227721387..227723792-chr1:227750003..227751668,2	MCF-7	breast:
39	chr1:227728577..227730296-chr1:227730401..227732480,2	MCF-7	breast:
40	chr1:227725139..227726773-chr1:227727190..227729662,2	K562	blood:
41	chr1:227696655..227700997-chr1:227705079..227707461,4	K562	blood:
42	chr1:227732140..227734388-chr1:227916123..227918168,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDC42BPA-1	chr1:227698297-227698388	ENSG00000227711
2	lnc-CDC42BPA-1	chr1:227698498-227698669	ENSG00000227711
3	lnc-CDC42BPA-1	chr1:227699298-227699391	ENSG00000227711
4	lnc-CDC42BPA-1	chr1:227708099-227708178	ENSG00000227711
5	lnc-CDC42BPA-1	chr1:227699939-227700069	ENSG00000227711
6	lnc-CDC42BPA-1	chr1:227707461-227707510	ENSG00000227711

Variant related genes	Relation type
ENSG00000227711	TF binding region
ENSG00000227711	CpG island
ENSG00000181450	chromatin interactions
ENSG00000202264	chromatin interactions
ENSG00000081692	chromatin interactions
ENSG00000143740	chromatin interactions

Extended variants
information (count: 1090 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1090 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2644140	chr1:227697381-227697382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs527571726	chr1:227697384-227697385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542881443	chr1:227697429-227697430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542453027	chr1:227697431-227697432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561185374	chr1:227697442-227697443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531496626	chr1:227697444-227697445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368858237	chr1:227697524-227697525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148713128	chr1:227697542-227697543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571364712	chr1:227697609-227697610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562602568	chr1:227697626-227697627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2018401	chr1:227697653-227697654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs113265352	chr1:227697663-227697664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565636263	chr1:227697707-227697708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560741572	chr1:227697731-227697732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185162169	chr1:227697759-227697760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189639401	chr1:227697762-227697763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141591216	chr1:227697774-227697775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181053841	chr1:227697777-227697778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185089868	chr1:227697798-227697799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189874183	chr1:227697834-227697835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553987017	chr1:227697917-227697918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572373809	chr1:227697918-227697919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201527151	chr1:227698030-227698031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199544165	chr1:227698033-227698034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372766321	chr1:227698037-227698038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374990475	chr1:227698038-227698039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200990620	chr1:227698062-227698063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112139039	chr1:227698069-227698070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543056063	chr1:227698071-227698072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72472990	chr1:227698076-227698077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370518678	chr1:227698105-227698106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115008424	chr1:227698109-227698110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34796435	chr1:227698156-227698157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370891183	chr1:227698236-227698237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150910487	chr1:227698267-227698268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565123511	chr1:227698292-227698293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs386639967	chr1:227698294-227698295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58961542	chr1:227698295-227698296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs527308151	chr1:227698362-227698363	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs79651375	chr1:227698370-227698371	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs57976045	chr1:227698375-227698376	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs529651455	chr1:227698416-227698417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180784219	chr1:227698459-227698460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11583000	chr1:227698471-227698472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2819511	chr1:227698474-227698475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs538173546	chr1:227698540-227698541	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs556321909	chr1:227698587-227698588	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs139392580	chr1:227698600-227698601	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs41307664	chr1:227698625-227698626	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs187325145	chr1:227698634-227698635	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:499 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227696600-227699600	Weak transcription	Right Atrium	heart
2	chr1:227699800-227700400	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr1:227700400-227701400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:227701400-227701600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr1:227706800-227707000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:227706800-227707600	Enhancers	K562	blood
7	chr1:227709200-227710200	Enhancers	HSMMtube	muscle
8	chr1:227709600-227710200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:227714200-227721800	ZNF genes & repeats	Liver	Liver
10	chr1:227715400-227719600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:227715600-227721600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:227718000-227718400	ZNF genes & repeats	Fetal Kidney	kidney
13	chr1:227718000-227721000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr1:227718600-227723200	Weak transcription	Psoas Muscle	Psoas
15	chr1:227719400-227720000	ZNF genes & repeats	A549	lung
16	chr1:227719400-227721000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:227719600-227720400	ZNF genes & repeats	Esophagus	oesophagus
18	chr1:227719600-227720400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
19	chr1:227719600-227720600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:227719600-227720800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:227719600-227720800	ZNF genes & repeats	Pancreas	Pancrea
22	chr1:227719800-227720600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:227719800-227720600	Enhancers	Hela-S3	cervix
24	chr1:227719800-227720800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:227719800-227720800	Enhancers	K562	blood
26	chr1:227719800-227721200	ZNF genes & repeats	Aorta	Aorta
27	chr1:227720000-227720800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:227720000-227722000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:227720200-227720400	ZNF genes & repeats	Brain Anterior Caudate	brain
30	chr1:227720200-227720800	ZNF genes & repeats	Left Ventricle	heart
31	chr1:227720200-227721000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr1:227720200-227721000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
33	chr1:227720200-227721200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:227720600-227721200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:227720800-227725800	Weak transcription	Pancreas	Pancrea
36	chr1:227720800-227729200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:227720800-227729200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:227721200-227725800	Weak transcription	Aorta	Aorta
39	chr1:227725200-227729000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr1:227725800-227726200	ZNF genes & repeats	Aorta	Aorta
41	chr1:227725800-227726200	ZNF genes & repeats	Pancreas	Pancrea
42	chr1:227725800-227726400	ZNF genes & repeats	Liver	Liver
43	chr1:227726200-227726800	Weak transcription	Gastric	stomach
44	chr1:227726200-227728600	Weak transcription	Pancreas	Pancrea
45	chr1:227726200-227729600	Weak transcription	Aorta	Aorta
46	chr1:227726400-227729200	Weak transcription	Liver	Liver
47	chr1:227728000-227729200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr1:227728200-227728400	Weak transcription	Gastric	stomach
49	chr1:227728400-227728600	Enhancers	Gastric	stomach
50	chr1:227728400-227729200	Enhancers	Duodenum Mucosa	Duodenum

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