Variant report

Variant	nsv947070
Chromosome Location	chr1:224178779-224183075
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	chr1:224180236-224180463	HepG2	liver:	n/a	n/a
2	ATF1	chr1:224180104-224180596	K562	blood:	n/a	n/a
3	ATF2	chr1:224180111-224180616	GM12878	blood:	n/a	chr1:224180344-224180355
4	ATF2	chr1:224180121-224180542	GM12878	blood:	n/a	chr1:224180344-224180355
5	ATF2	chr1:224180114-224180475	H1-hESC	embryonic stem cell:	n/a	chr1:224180344-224180355
6	ATF2	chr1:224180127-224180483	H1-hESC	embryonic stem cell:	n/a	chr1:224180344-224180355
7	ATF3	chr1:224180214-224180405	GM12878	blood:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
8	ATF3	chr1:224180142-224180506	H1-hESC	embryonic stem cell:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
9	ATF3	chr1:224180121-224180536	GM12878	blood:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
10	ATF3	chr1:224180154-224180502	K562	blood:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
11	ATF3	chr1:224180177-224180522	K562	blood:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
12	ATF3	chr1:224180201-224180512	H1-hESC	embryonic stem cell:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
13	ATF3	chr1:224180172-224180501	HepG2	liver:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
14	ATF3	chr1:224180187-224180478	K562	blood:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
15	BACH1	chr1:224180388-224180426	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr1:224182430-224182667	GM12878	blood:	n/a	n/a
17	BATF	chr1:224182397-224182686	GM12878	blood:	n/a	n/a
18	BATF	chr1:224179785-224180831	GM12878	blood:	n/a	n/a
19	BCL11A	chr1:224179801-224179949	GM12878	blood:	n/a	n/a
20	BCL11A	chr1:224180490-224180840	GM12878	blood:	n/a	chr1:224180534-224180543 chr1:224180711-224180724 chr1:224180714-224180727
21	BCL11A	chr1:224179744-224180938	GM12878	blood:	n/a	chr1:224180534-224180543 chr1:224180711-224180724 chr1:224180714-224180727
22	BCLAF1	chr1:224180115-224180562	GM12878	blood:	n/a	chr1:224180534-224180543
23	BHLHE40	chr1:224180228-224180289	GM12878	blood:	n/a	n/a
24	BHLHE40	chr1:224180242-224180429	K562	blood:	n/a	n/a
25	BRCA1	chr1:224180265-224180436	HepG2	liver:	n/a	n/a
26	BRCA1	chr1:224180216-224180478	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr1:224180176-224180497	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr1:224180221-224180418	GM12878	blood:	n/a	n/a
29	CBX3	chr1:224179390-224179770	K562	blood:	n/a	n/a
30	CBX3	chr1:224180045-224180497	K562	blood:	n/a	n/a
31	CBX3	chr1:224179867-224180856	K562	blood:	n/a	n/a
32	CCNT2	chr1:224180229-224180441	K562	blood:	n/a	n/a
33	CEBPB	chr1:224181360-224181572	Hela-S3	cervix:	n/a	chr1:224181395-224181406
34	CEBPB	chr1:224181204-224181542	K562	blood:	n/a	chr1:224181395-224181406
35	CEBPB	chr1:224179718-224180685	K562	blood:	n/a	chr1:224180401-224180409
36	CEBPB	chr1:224181371-224181408	A549	lung:	n/a	chr1:224181395-224181406
37	CEBPB	chr1:224180250-224180459	A549	lung:	n/a	chr1:224180401-224180409
38	CEBPB	chr1:224180086-224180423	K562	blood:	n/a	chr1:224180401-224180409
39	CEBPB	chr1:224181167-224181579	K562	blood:	n/a	chr1:224181395-224181406
40	CEBPB	chr1:224181288-224181572	IMR90	lung:	n/a	chr1:224181395-224181406
41	CEBPB	chr1:224181368-224181567	HepG2	liver:	n/a	chr1:224181395-224181406
42	CEBPB	chr1:224181360-224181568	K562	blood:	n/a	chr1:224181395-224181406
43	CEBPB	chr1:224180243-224180475	HepG2	liver:	n/a	chr1:224180401-224180409
44	CEBPB	chr1:224180193-224180445	Hela-S3	cervix:	n/a	chr1:224180401-224180409
45	CEBPD	chr1:224180133-224180451	HepG2	liver:	n/a	n/a
46	CEBPD	chr1:224179963-224180625	K562	blood:	n/a	n/a
47	CEBPD	chr1:224181195-224181608	K562	blood:	n/a	n/a
48	CHD2	chr1:224180190-224180494	Hela-S3	cervix:	n/a	n/a
49	CHD2	chr1:224180243-224180430	HepG2	liver:	n/a	n/a
50	CHD2	chr1:224180101-224180490	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:224179665-224179715	BE2_C	brain:	n/a
2	chr1:224179665-224179715	BE2_C	brain:	n/a
3	chr1:224179665-224179715	HL-60	blood:	n/a
4	chr1:224179665-224179715	SKMC	muscle:	n/a
5	chr1:224180288-224180338	SK-N-SH	brain:	n/a
6	chr1:224180444-224180494	ECC-1	luminal epithelium:	n/a
7	chr1:224180444-224180494	GM12891	blood:	n/a
8	chr1:224180302-224180352	PrEC	prostate:	n/a
9	chr1:224180444-224180494	HCT-116	colon:	n/a
10	chr1:224180288-224180338	PANC-1	pancreas:	n/a
11	chr1:224180516-224180566	NB4	blood:	n/a
12	chr1:224180288-224180338	Hepatocyte	liver:	n/a
13	chr1:224179665-224179715	GM12892	blood:	n/a
14	chr1:224180516-224180566	HRPEpiC	eye:	n/a
15	chr1:224180302-224180352	HCF	heart:	n/a
16	chr1:224180444-224180494	LNCaP	prostate:	n/a
17	chr1:224179665-224179715	K562	blood:	n/a
18	chr1:224180444-224180494	HUVEC	blood vessel:	n/a
19	chr1:224179665-224179715	IMR90	lung:	fetal
20	chr1:224180516-224180566	AG09309	skin:	n/a
21	chr1:224180288-224180338	NH-A	brain:	n/a
22	chr1:224180302-224180352	HCPEpiC	choroid plexus:	n/a
23	chr1:224180516-224180566	HEEpiC	esophagus:	n/a
24	chr1:224180288-224180338	AG04449	skin:	fetal
25	chr1:224180288-224180338	HMEC	breast:	n/a
26	chr1:224180302-224180352	Jurkat	blood:	n/a
27	chr1:224179665-224179715	CMK	blood:	n/a
28	chr1:224180302-224180352	GM06990	blood:	n/a
29	chr1:224180288-224180338	HPAEpiC	pulmonary alveolar:	n/a
30	chr1:224180302-224180352	ECC-1	luminal epithelium:	n/a
31	chr1:224180302-224180352	AG10803	skin:	n/a
32	chr1:224179665-224179715	ECC-1	luminal epithelium:	n/a
33	chr1:224180516-224180566	HCT-116	colon:	n/a
34	chr1:224179665-224179715	A549	lung:	n/a
35	chr1:224180288-224180338	ovcar-3	ovarian:	n/a
36	chr1:224179665-224179715	PANC-1	pancreas:	n/a
37	chr1:224179665-224179715	PrEC	prostate:	n/a
38	chr1:224180288-224180338	HRE	kidney:	n/a
39	chr1:224180444-224180494	HIPEpiC	eye:	n/a
40	chr1:224180516-224180566	Caco-2	colon:	n/a
41	chr1:224180444-224180494	SK-N-SH	brain:	n/a
42	chr1:224180516-224180566	HRCEpiC	kidney:	n/a
43	chr1:224180288-224180338	H1-hESC	embryonic stem cell:	embryo
44	chr1:224180444-224180494	HepG2	liver:	n/a
45	chr1:224180288-224180338	GM06990	blood:	n/a
46	chr1:224180444-224180494	HCPEpiC	choroid plexus:	n/a
47	chr1:224180288-224180338	CMK	blood:	n/a
48	chr1:224180444-224180494	PANC-1	pancreas:	n/a
49	chr1:224180288-224180338	SK-N-MC	brain:	n/a
50	chr1:224180516-224180566	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:224178733..224180652-chr1:224310129..224312087,2	K562	blood:
2	chr1:224178905..224181889-chr1:224301318..224303879,2	MCF-7	breast:
3	chr1:223887763..223889342-chr1:224178879..224180474,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXO28-1	chr1:224180714-224180749	NONHSAT009760

Variant related genes	Relation type
ENSG00000232372	TF binding region
ENSG00000243000	TF binding region
ENSG00000185495	TF binding region
ENSG00000232372	CpG island
ENSG00000243000	CpG island
ENSG00000185495	CpG island
ENSG00000162909	chromatin interactions
ENSG00000143756	chromatin interactions

Extended variants
information (count: 152 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536775727	chr1:224178812-224178813	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
2	rs552005624	chr1:224178834-224178835	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
3	rs570393437	chr1:224178839-224178840	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
4	rs56125778	chr1:224178929-224178930	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs55889798	chr1:224178936-224178937	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs55832742	chr1:224178981-224178982	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs534331486	chr1:224178993-224178994	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs6689080	chr1:224178999-224179000	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs59706483	chr1:224179001-224179002	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs536043602	chr1:224179014-224179015	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs557617794	chr1:224179016-224179017	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs575932682	chr1:224179101-224179102	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs546244686	chr1:224179104-224179105	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs186036654	chr1:224179109-224179110	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs573146363	chr1:224179140-224179141	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs540317050	chr1:224179149-224179150	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs56102632	chr1:224179222-224179223	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs559586946	chr1:224179269-224179270	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs529969677	chr1:224179294-224179295	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs370289343	chr1:224179320-224179321	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs547957612	chr1:224179323-224179324	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs563111860	chr1:224179326-224179327	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs199947005	chr1:224179386-224179387	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs539739083	chr1:224179420-224179421	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs191151503	chr1:224179437-224179438	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs4233238	chr1:224179439-224179440	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs572802221	chr1:224179451-224179452	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs35435413	chr1:224179468-224179469	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs397708138	chr1:224179469-224179470	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs570455438	chr1:224179496-224179497	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs183870624	chr1:224179518-224179519	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs186242054	chr1:224179524-224179525	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs568749934	chr1:224179532-224179533	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs536129198	chr1:224179555-224179556	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs3121392	chr1:224179569-224179570	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs4654038	chr1:224179624-224179625	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	mRNA abundance
37	rs575870229	chr1:224179641-224179642	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs539650731	chr1:224179662-224179663	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs59111173	chr1:224179669-224179670	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs573298672	chr1:224179671-224179672	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs201426567	chr1:224179675-224179676	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs55793298	chr1:224179676-224179677	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs138012112	chr1:224179679-224179680	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs540605093	chr1:224179691-224179692	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs561773689	chr1:224179744-224179745	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs573716596	chr1:224179784-224179785	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs543637885	chr1:224179792-224179793	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs55823516	chr1:224179793-224179794	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs563554466	chr1:224179857-224179858	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs190814098	chr1:224179922-224179923	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	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
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD

Chromatin state (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224136400-224179800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:224138000-224179600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:224138200-224179200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:224138200-224179600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:224138200-224179600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:224138400-224179600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:224138400-224179800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:224138600-224179600	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:224138800-224179800	Weak transcription	Left Ventricle	heart
10	chr1:224139800-224179600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:224140200-224179800	Weak transcription	Placenta	Placenta
12	chr1:224140400-224179200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:224140400-224179800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:224141400-224179200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:224145000-224179800	Weak transcription	Primary T cells from cord blood	blood
16	chr1:224146800-224179600	Weak transcription	Fetal Intestine Large	intestine
17	chr1:224150000-224179800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:224150000-224179800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:224150200-224179800	Weak transcription	Liver	Liver
20	chr1:224154600-224179200	Weak transcription	Psoas Muscle	Psoas
21	chr1:224158000-224179400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr1:224158000-224179800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:224161400-224179600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:224161600-224179800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr1:224162200-224179600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:224168800-224179800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:224170600-224179600	Weak transcription	Fetal Intestine Small	intestine
28	chr1:224173600-224179800	Weak transcription	Fetal Stomach	stomach
29	chr1:224176000-224180000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:224176200-224179200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:224176800-224179200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:224177000-224179600	Weak transcription	HSMM	muscle
33	chr1:224179000-224179200	Enhancers	Brain Substantia Nigra	brain
34	chr1:224179000-224179600	Enhancers	Pancreas	Pancrea
35	chr1:224179000-224179600	Enhancers	Dnd41	blood
36	chr1:224179000-224179600	Enhancers	K562	blood
37	chr1:224179000-224182200	Active TSS	GM12878-XiMat	blood
38	chr1:224179200-224179400	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr1:224179200-224179400	Enhancers	Psoas Muscle	Psoas
40	chr1:224179200-224179400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr1:224179200-224179400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr1:224179200-224179400	Enhancers	Spleen	Spleen
43	chr1:224179200-224179600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:224179200-224179600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:224179200-224179600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:224179200-224179600	Enhancers	Brain Anterior Caudate	brain
47	chr1:224179200-224179600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:224179200-224179600	Enhancers	Ovary	ovary
49	chr1:224179200-224179600	Enhancers	HepG2	liver
50	chr1:224179200-224179800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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