Variant report

Variant	esv3327012
Chromosome Location	chr1:227741102-227890968
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1011)
CpG islands
(count:1713)
Chromatin interactive
region (count:77)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1011 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:227751026-227751349	K562	blood:	n/a	n/a
2	ARID3A	chr1:227751564-227751877	K562	blood:	n/a	n/a
3	ARID3A	chr1:227751218-227751722	HepG2	liver:	n/a	n/a
4	ATF1	chr1:227757930-227758028	K562	blood:	n/a	n/a
5	ATF1	chr1:227750981-227751936	K562	blood:	n/a	n/a
6	ATF2	chr1:227750934-227751647	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr1:227750900-227751557	GM12878	blood:	n/a	n/a
8	ATF2	chr1:227750837-227751475	GM12878	blood:	n/a	n/a
9	ATF2	chr1:227750761-227751804	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr1:227750978-227751298	K562	blood:	n/a	n/a
11	ATF3	chr1:227750826-227751933	K562	blood:	n/a	n/a
12	BACH1	chr1:227751203-227751694	K562	blood:	n/a	n/a
13	BACH1	chr1:227750856-227750913	K562	blood:	n/a	n/a
14	BACH1	chr1:227751367-227751834	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr1:227779228-227779391	GM12878	blood:	n/a	n/a
16	BATF	chr1:227750972-227751306	GM12878	blood:	n/a	chr1:227751135-227751146
17	BATF	chr1:227779232-227779394	GM12878	blood:	n/a	n/a
18	BCLAF1	chr1:227751242-227751839	GM12878	blood:	n/a	chr1:227751629-227751642 chr1:227751582-227751595 chr1:227751548-227751561
19	BCLAF1	chr1:227751088-227751681	GM12878	blood:	n/a	chr1:227751629-227751642 chr1:227751582-227751595 chr1:227751548-227751561
20	BHLHE40	chr1:227751036-227751857	GM12878	blood:	n/a	chr1:227751546-227751562
21	BHLHE40	chr1:227751105-227751654	HepG2	liver:	n/a	chr1:227751546-227751562
22	BHLHE40	chr1:227751097-227751887	K562	blood:	n/a	chr1:227751546-227751562
23	BHLHE40	chr1:227760484-227760794	K562	blood:	n/a	n/a
24	BHLHE40	chr1:227758115-227758121	GM12878	blood:	n/a	n/a
25	BHLHE40	chr1:227756385-227756616	HepG2	liver:	n/a	n/a
26	BRCA1	chr1:227774440-227774553	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr1:227751268-227751740	HepG2	liver:	n/a	n/a
28	BRCA1	chr1:227750874-227751051	GM12878	blood:	n/a	chr1:227750951-227750958
29	CBX3	chr1:227760385-227760817	K562	blood:	n/a	n/a
30	CBX3	chr1:227842134-227843536	K562	blood:	n/a	n/a
31	CBX3	chr1:227783870-227784326	K562	blood:	n/a	n/a
32	CBX3	chr1:227760352-227760912	K562	blood:	n/a	n/a
33	CBX3	chr1:227750790-227751970	K562	blood:	n/a	n/a
34	CBX3	chr1:227842655-227842994	HCT-116	colon:	n/a	n/a
35	CBX3	chr1:227750618-227752062	K562	blood:	n/a	n/a
36	CBX3	chr1:227842004-227843395	K562	blood:	n/a	n/a
37	CBX3	chr1:227783852-227784220	K562	blood:	n/a	n/a
38	CCNT2	chr1:227760472-227760780	K562	blood:	n/a	chr1:227760621-227760641
39	CCNT2	chr1:227750844-227751880	K562	blood:	n/a	chr1:227751539-227751548
40	CCNT2	chr1:227873536-227873774	K562	blood:	n/a	n/a
41	CEBPB	chr1:227829244-227829526	A549	lung:	n/a	chr1:227829381-227829392
42	CEBPB	chr1:227760569-227760646	K562	blood:	n/a	n/a
43	CEBPB	chr1:227829270-227829473	HepG2	liver:	n/a	chr1:227829381-227829392
44	CEBPB	chr1:227790023-227790250	HepG2	liver:	n/a	chr1:227790129-227790142 chr1:227790129-227790140 chr1:227790131-227790142
45	CEBPB	chr1:227756380-227756667	K562	blood:	n/a	chr1:227756526-227756537
46	CEBPB	chr1:227751049-227751265	K562	blood:	n/a	n/a
47	CEBPB	chr1:227808722-227808763	HepG2	liver:	n/a	chr1:227808728-227808739
48	CEBPB	chr1:227756347-227756700	HepG2	liver:	n/a	chr1:227756526-227756537
49	CEBPB	chr1:227885494-227885692	A549	lung:	n/a	n/a
50	CEBPB	chr1:227754305-227754407	IMR90	lung:	n/a	n/a

(count:1713 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:227750857-227750907	HL-60	blood:	n/a
2	chr1:227750857-227750907	PrEC	prostate:	n/a
3	chr1:227748003-227748053	SK-N-SH_RA	brain:	n/a
4	chr1:227751410-227751460	ProgFib	skin:	n/a
5	chr1:227848847-227848897	Jurkat	blood:	n/a
6	chr1:227750857-227750907	HL-60	blood:	n/a
7	chr1:227750857-227750907	PrEC	prostate:	n/a
8	chr1:227748003-227748053	SK-N-SH_RA	brain:	n/a
9	chr1:227751410-227751460	ProgFib	skin:	n/a
10	chr1:227848847-227848897	Jurkat	blood:	n/a
11	chr1:227746453-227746503	ProgFib	skin:	n/a
12	chr1:227754452-227754502	NH-A	brain:	n/a
13	chr1:227751251-227751301	GM06990	blood:	n/a
14	chr1:227751251-227751301	HPAEpiC	pulmonary alveolar:	n/a
15	chr1:227747468-227747518	MCF10A-Er-Src	breast:	n/a
16	chr1:227751555-227751605	HCM	heart:	n/a
17	chr1:227748424-227748474	AG04449	skin:	fetal
18	chr1:227805562-227805612	AG09309	skin:	n/a
19	chr1:227751251-227751301	SK-N-SH_RA	brain:	n/a
20	chr1:227754452-227754502	AoSMC	blood vessel:	n/a
21	chr1:227754452-227754502	Caco-2	colon:	n/a
22	chr1:227746294-227746344	BJ	skin:	n/a
23	chr1:227751018-227751068	CMK	blood:	n/a
24	chr1:227750892-227750942	PANC-1	pancreas:	n/a
25	chr1:227751318-227751368	HEEpiC	esophagus:	n/a
26	chr1:227746882-227746932	ovcar-3	ovarian:	n/a
27	chr1:227751228-227751278	GM12878	blood:	n/a
28	chr1:227746111-227746161	H1-hESC	embryonic stem cell:	embryo
29	chr1:227751018-227751068	GM06990	blood:	n/a
30	chr1:227748003-227748053	HEEpiC	esophagus:	n/a
31	chr1:227746191-227746241	HUVEC	blood vessel:	n/a
32	chr1:227848847-227848897	GM12892	blood:	n/a
33	chr1:227751612-227751662	HNPCEpiC	eye:	n/a
34	chr1:227751555-227751605	T-47D	breast:	n/a
35	chr1:227748719-227748769	H1-hESC	embryonic stem cell:	embryo
36	chr1:227748442-227748492	GM12891	blood:	n/a
37	chr1:227747268-227747318	BE2_C	brain:	n/a
38	chr1:227805562-227805612	BJ	skin:	n/a
39	chr1:227751018-227751068	GM12891	blood:	n/a
40	chr1:227747268-227747318	SK-N-SH	brain:	n/a
41	chr1:227751018-227751068	T-47D	breast:	n/a
42	chr1:227746294-227746344	NH-A	brain:	n/a
43	chr1:227748424-227748474	HCF	heart:	n/a
44	chr1:227748442-227748492	HCT-116	colon:	n/a
45	chr1:227753056-227753106	ECC-1	luminal epithelium:	n/a
46	chr1:227748003-227748053	PANC-1	pancreas:	n/a
47	chr1:227751290-227751340	IMR90	lung:	fetal
48	chr1:227748424-227748474	GM12878	blood:	n/a
49	chr1:227751228-227751278	BJ	skin:	n/a
50	chr1:227751555-227751605	HCPEpiC	choroid plexus:	n/a

(count:77 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:227770918..227773838-chr1:227849267..227851586,2	K562	blood:
2	chr1:227750868..227753411-chr1:227876649..227879488,3	MCF-7	breast:
3	chr1:227745812..227749133-chr1:227750205..227753010,3	K562	blood:
4	chr1:227751815..227753395-chr1:227758245..227760827,2	K562	blood:
5	chr1:227753836..227756057-chr1:227770854..227772985,2	K562	blood:
6	chr1:227849383..227851144-chr1:227857842..227859420,2	K562	blood:
7	chr1:227747468..227754046-chr1:227756230..227762193,11	K562	blood:
8	chr1:227746809..227749278-chr1:227751802..227753794,2	K562	blood:
9	chr1:227750485..227753140-chr1:227776941..227779437,2	K562	blood:
10	chr1:227746379..227748088-chr1:227771119..227773064,2	K562	blood:
11	chr1:227791876..227793589-chr1:227795199..227797035,2	MCF-7	breast:
12	chr1:227747297..227750908-chr1:227767756..227771118,3	K562	blood:
13	chr1:227758119..227760802-chr16:33923322..33925835,2	MCF-7	breast:
14	chr1:227842682..227845099-chr1:227847635..227850326,2	MCF-7	breast:
15	chr1:227751959..227755569-chr1:227762720..227764448,3	MCF-7	breast:
16	chr1:227746379..227748088-chr1:227771119..227773064,2	K562	blood:
17	chr1:227767723..227770508-chr1:227774778..227776968,2	K562	blood:
18	chr1:227797075..227799559-chr1:227811537..227814521,3	MCF-7	breast:
19	chr1:227751815..227753395-chr1:227758245..227760827,2	K562	blood:
20	chr1:227826740..227828774-chr1:227831005..227833659,2	K562	blood:
21	chr1:227840840..227843774-chr1:227844086..227846968,3	K562	blood:
22	chr1:227751959..227755569-chr1:227762720..227764448,3	MCF-7	breast:
23	chr1:227733965..227736657-chr1:227743143..227745274,2	K562	blood:
24	chr1:227749302..227751553-chr1:227846304..227849175,2	K562	blood:
25	chr1:227855952..227858398-chr1:227859286..227860995,3	MCF-7	breast:
26	chr1:227824309..227826366-chr1:227826711..227829251,2	K562	blood:
27	chr1:227824309..227826366-chr1:227826711..227829251,2	K562	blood:
28	chr1:227753836..227756057-chr1:227770854..227772985,2	K562	blood:
29	chr1:227864255..227866581-chr1:227882293..227884095,2	MCF-7	breast:
30	chr1:227788387..227792001-chr1:227793458..227797265,5	K562	blood:
31	chr1:227797075..227799559-chr1:227811537..227814521,3	MCF-7	breast:
32	chr1:227797816..227799614-chr1:227803015..227804639,2	MCF-7	breast:
33	chr1:227833022..227835351-chr1:227838845..227841426,2	K562	blood:
34	chr1:227750211..227752851-chr1:227914757..227917634,3	MCF-7	breast:
35	chr1:227798107..227799678-chr1:227830599..227832461,2	K562	blood:
36	chr1:227745812..227749133-chr1:227750205..227753010,3	K562	blood:
37	chr1:227786695..227788345-chr1:227795346..227798093,2	K562	blood:
38	chr1:227798107..227799678-chr1:227830599..227832461,2	K562	blood:
39	chr1:227767226..227769814-chr1:227770248..227772241,2	K562	blood:
40	chr1:227840840..227843527-chr1:227844086..227846913,2	K562	blood:
41	chr1:227746078..227748822-chr1:227750543..227752863,2	MCF-7	breast:
42	chr1:227803218..227804951-chr1:227810975..227813465,2	MCF-7	breast:
43	chr1:227860615..227863443-chr1:227864558..227866312,2	K562	blood:
44	chr1:227837115..227837866-chr12:131600904..131601538,2	MCF-7	breast:
45	chr1:227840840..227843774-chr1:227844086..227846968,3	K562	blood:
46	chr1:227695645..227697944-chr1:227752053..227753592,2	K562	blood:
47	chr1:227750240..227752795-chr1:227921793..227923560,2	K562	blood:
48	chr1:227749843..227751616-chr1:227752949..227754872,2	K562	blood:
49	chr1:227797816..227799614-chr1:227803015..227804639,2	MCF-7	breast:
50	chr1:227749534..227751612-chr1:227801658..227804167,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-JMJD4-2	chr1:227885275-227885408	NONHSAT009937
2	lnc-JMJD4-2	chr1:227885286-227885408	NONHSAT009936
3	lnc-JMJD4-3	chr1:227786125-227786795	NONHSAT009929
4	lnc-JMJD4-2	chr1:227884733-227884856	NONHSAT009937
5	lnc-JMJD4-2	chr1:227884733-227884867	NONHSAT009936
6	lnc-JMJD4-2	chr1:227884593-227885127	NONHSAT009935
7	lnc-JMJD4-2	chr1:227885361-227885635	NONHSAT009935
8	lnc-JMJD4-2	chr1:227885831-227885904	NONHSAT009935

No data

Variant related genes	Relation type
ZNF847P	TF binding region
RNA5SP77	TF binding region
ZNF678	TF binding region
ENSG00000225934	TF binding region
ENSG00000265216	TF binding region
ZNF847P	CpG island
RNA5SP77	CpG island
ZNF678	CpG island
ENSG00000225934	CpG island
ENSG00000265216	CpG island
ENSG00000225934	chromatin interactions
ENSG00000202264	chromatin interactions
ENSG00000265216	chromatin interactions
ENSG00000143740	chromatin interactions
ENSG00000163050	chromatin interactions
ENSG00000181450	chromatin interactions
ENSG00000081692	chromatin interactions

Extended variants
information (count: 4886 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:4886 , 50 per page) page: 1 2 3 4 5 6 7 ... 98

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201088863	chr1:227741126-227741127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201963040	chr1:227741128-227741129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200198320	chr1:227741131-227741132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192015963	chr1:227741196-227741197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182948959	chr1:227741235-227741236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559427610	chr1:227741245-227741246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528285942	chr1:227741251-227741252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374000229	chr1:227741302-227741303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561060755	chr1:227741323-227741324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531651371	chr1:227741379-227741380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs60835672	chr1:227741410-227741411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs571113480	chr1:227741422-227741423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7413796	chr1:227741423-227741424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs547132974	chr1:227741444-227741445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370541031	chr1:227741447-227741448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565335678	chr1:227741452-227741453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535899735	chr1:227741582-227741583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554562924	chr1:227741589-227741590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs61833168	chr1:227741610-227741611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185779587	chr1:227741666-227741667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201794715	chr1:227741736-227741737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140856936	chr1:227741755-227741756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs578235054	chr1:227741769-227741770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531476086	chr1:227741918-227741919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545515377	chr1:227742001-227742002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560596364	chr1:227742025-227742026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572387995	chr1:227742028-227742029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112257237	chr1:227742097-227742098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542622388	chr1:227742116-227742117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113047836	chr1:227742119-227742120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561357041	chr1:227742126-227742127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531460303	chr1:227742135-227742136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572922871	chr1:227742155-227742156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190097536	chr1:227742299-227742300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540438122	chr1:227742308-227742309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532224636	chr1:227742322-227742323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547071279	chr1:227742343-227742344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377476856	chr1:227742369-227742370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182324904	chr1:227742375-227742376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529816933	chr1:227742400-227742401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547826970	chr1:227742401-227742402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144826633	chr1:227742402-227742403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550284515	chr1:227742486-227742487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538145598	chr1:227742507-227742508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556943068	chr1:227742508-227742509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571847302	chr1:227742517-227742518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187697391	chr1:227742580-227742581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370673184	chr1:227742581-227742582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554420332	chr1:227742649-227742650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72632831	chr1:227742669-227742670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

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
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2155 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227731000-227748400	Weak transcription	Right Atrium	heart
2	chr1:227743800-227744200	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr1:227744000-227744400	Enhancers	Stomach Mucosa	stomach
4	chr1:227744200-227744400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr1:227746000-227746600	Bivalent Enhancer	Primary B cells from cord blood	blood
6	chr1:227746000-227746600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:227746200-227746400	ZNF genes & repeats	Spleen	Spleen
8	chr1:227746200-227746800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:227746200-227747400	Active TSS	Placenta Amnion	Placenta Amnion
10	chr1:227746200-227747600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
11	chr1:227746200-227747800	Enhancers	Primary B cells from peripheral blood	blood
12	chr1:227746400-227746600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:227746400-227747400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
14	chr1:227746400-227749200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:227746400-227749200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:227746400-227751200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr1:227746600-227746800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:227746600-227747000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
19	chr1:227746600-227747000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
20	chr1:227746600-227747000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:227746600-227749800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:227746800-227747000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
23	chr1:227746800-227747000	Bivalent Enhancer	Fetal Thymus	thymus
24	chr1:227746800-227747400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:227747000-227747200	Enhancers	Pancreas	Pancrea
26	chr1:227747000-227747600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr1:227747000-227748400	Bivalent Enhancer	Primary B cells from cord blood	blood
28	chr1:227747000-227748400	Bivalent Enhancer	Fetal Heart	heart
29	chr1:227747000-227749000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:227747200-227747400	Bivalent Enhancer	Fetal Intestine Small	intestine
31	chr1:227747200-227747400	Bivalent Enhancer	Fetal Stomach	stomach
32	chr1:227747200-227747600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:227747200-227747600	Bivalent Enhancer	Brain Germinal Matrix	brain
34	chr1:227747200-227747800	Weak transcription	Pancreas	Pancrea
35	chr1:227747200-227749000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr1:227747400-227747600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
37	chr1:227747400-227747600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:227747400-227747600	Flanking Active TSS	Right Ventricle	heart
39	chr1:227747400-227747800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr1:227747400-227748600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
41	chr1:227747600-227747800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
42	chr1:227747600-227747800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
43	chr1:227747600-227747800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
44	chr1:227747600-227747800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:227747600-227748000	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:227747600-227748000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
47	chr1:227747600-227748000	Bivalent Enhancer	Stomach Mucosa	stomach
48	chr1:227747600-227748200	Active TSS	Brain Substantia Nigra	brain
49	chr1:227747600-227748200	Enhancers	Right Ventricle	heart
50	chr1:227747600-227748600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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