Variant report

Variant	nsv872253
Chromosome Location	chr1:146494246-146548549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:224)
CpG islands
(count:1465)
Chromatin interactive
region (count:36)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:224 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:146516435-146516446	K562	blood:	n/a	n/a
2	ATF3	chr1:146544653-146544913	K562	blood:	n/a	chr1:146544720-146544727
3	BATF	chr1:146544687-146544893	GM12878	blood:	n/a	n/a
4	BATF	chr1:146518478-146518756	GM12878	blood:	n/a	n/a
5	BATF	chr1:146518484-146518763	GM12878	blood:	n/a	n/a
6	BATF	chr1:146544664-146544878	GM12878	blood:	n/a	n/a
7	BATF	chr1:146518014-146518382	GM12878	blood:	n/a	n/a
8	BATF	chr1:146518027-146518369	GM12878	blood:	n/a	n/a
9	BCL11A	chr1:146518023-146518390	GM12878	blood:	n/a	n/a
10	BCL11A	chr1:146544622-146544933	GM12878	blood:	n/a	n/a
11	BCL11A	chr1:146544653-146544883	GM12878	blood:	n/a	n/a
12	BCL11A	chr1:146518060-146518399	GM12878	blood:	n/a	n/a
13	BHLHE40	chr1:146544054-146544163	K562	blood:	n/a	n/a
14	CEBPB	chr1:146501929-146502262	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr1:146498283-146498449	K562	blood:	n/a	n/a
16	CEBPB	chr1:146504495-146504541	K562	blood:	n/a	n/a
17	CEBPB	chr1:146501953-146502260	IMR90	lung:	n/a	n/a
18	CEBPB	chr1:146498284-146498468	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr1:146499031-146499218	HepG2	liver:	n/a	chr1:146499089-146499100
20	CEBPB	chr1:146544344-146544471	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr1:146506220-146506370	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr1:146518227-146518251	Spleen_OC	spleen:	n/a	n/a
23	CTCF	chr1:146546693-146546773	GM20000	blood:	n/a	n/a
24	CTCF	chr1:146525497-146525572	Kidney_OC	kidney:	n/a	n/a
25	E2F4	chr1:146519552-146519845	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F6	chr1:146544317-146544457	K562	blood:	n/a	n/a
27	E2F6	chr1:146543761-146544859	H1-hESC	embryonic stem cell:	n/a	n/a
28	E2F6	chr1:146543920-146544639	H1-hESC	embryonic stem cell:	n/a	n/a
29	E2F6	chr1:146543984-146544167	K562	blood:	n/a	n/a
30	EBF1	chr1:146544705-146544900	GM12878	blood:	n/a	n/a
31	EBF1	chr1:146518172-146518653	GM12878	blood:	n/a	n/a
32	EBF1	chr1:146544697-146544889	GM12878	blood:	n/a	n/a
33	EBF1	chr1:146518058-146518657	GM12878	blood:	n/a	n/a
34	EBF1	chr1:146525002-146525104	GM12878	blood:	n/a	n/a
35	EBF1	chr1:146518085-146518457	GM12878	blood:	n/a	n/a
36	EP300	chr1:146547884-146548439	T-47D	breast:	n/a	chr1:146548141-146548148
37	EP300	chr1:146518052-146518403	GM12878	blood:	n/a	chr1:146518199-146518213
38	EP300	chr1:146544712-146544864	GM12878	blood:	n/a	n/a
39	EP300	chr1:146544647-146545022	GM12878	blood:	n/a	n/a
40	EP300	chr1:146518094-146518624	GM12878	blood:	n/a	chr1:146518199-146518213 chr1:146518471-146518485
41	FOS	chr1:146501622-146502265	MCF10A-Er-Src	breast:	n/a	chr1:146502068-146502078 chr1:146501927-146501937 chr1:146502069-146502077 chr1:146502068-146502078 chr1:146502068-146502078 chr1:146502068-146502078
42	FOS	chr1:146518825-146518833	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr1:146517882-146518830	HUVEC	blood vessel:	n/a	chr1:146518066-146518075
44	FOS	chr1:146501900-146502231	MCF10A-Er-Src	breast:	n/a	chr1:146502068-146502078 chr1:146501927-146501937 chr1:146502069-146502077 chr1:146502068-146502078 chr1:146502068-146502078 chr1:146502068-146502078
45	FOS	chr1:146542721-146542847	MCF10A-Er-Src	breast:	n/a	chr1:146542795-146542805 chr1:146542797-146542804 chr1:146542795-146542804
46	FOS	chr1:146518680-146518865	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr1:146501756-146502221	MCF10A-Er-Src	breast:	n/a	chr1:146502068-146502078 chr1:146501927-146501937 chr1:146502069-146502077 chr1:146502068-146502078 chr1:146502068-146502078 chr1:146502068-146502078
48	FOS	chr1:146501663-146502274	MCF10A-Er-Src	breast:	n/a	chr1:146502068-146502078 chr1:146501927-146501937 chr1:146502069-146502077 chr1:146502068-146502078 chr1:146502068-146502078 chr1:146502068-146502078
49	FOS	chr1:146509161-146509590	HUVEC	blood vessel:	n/a	chr1:146509351-146509363
50	FOSL2	chr1:146544692-146544911	HepG2	liver:	n/a	n/a

(count:1465 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:146522365-146522415	AG09309	skin:	n/a
2	chr1:146522365-146522415	AG09309	skin:	n/a
3	chr1:146494928-146494978	HAEpiC	amniotic membrane:	n/a
4	chr1:146548469-146548519	U87	brain:	n/a
5	chr1:146503900-146503950	NB4	blood:	n/a
6	chr1:146548032-146548082	HIPEpiC	eye:	n/a
7	chr1:146503900-146503950	H1-hESC	embryonic stem cell:	embryo
8	chr1:146515238-146515288	GM12892	blood:	n/a
9	chr1:146533323-146533373	AG10803	skin:	n/a
10	chr1:146548469-146548519	HAEpiC	amniotic membrane:	n/a
11	chr1:146522416-146522466	HNPCEpiC	eye:	n/a
12	chr1:146522878-146522928	NT2-D1	testis:	n/a
13	chr1:146533323-146533373	LNCaP	prostate:	n/a
14	chr1:146515238-146515288	HCF	heart:	n/a
15	chr1:146515238-146515288	RPTEC	kidney:	n/a
16	chr1:146544267-146544317	H1-hESC	embryonic stem cell:	embryo
17	chr1:146522492-146522542	BE2_C	brain:	n/a
18	chr1:146544645-146544695	GM06990	blood:	n/a
19	chr1:146522365-146522415	AG09319	gingival:	n/a
20	chr1:146522365-146522415	GM12891	blood:	n/a
21	chr1:146544267-146544317	NH-A	brain:	n/a
22	chr1:146543992-146544042	PrEC	prostate:	n/a
23	chr1:146498485-146498535	NT2-D1	testis:	n/a
24	chr1:146515238-146515288	AG09309	skin:	n/a
25	chr1:146522416-146522466	HEEpiC	esophagus:	n/a
26	chr1:146525992-146526042	BJ	skin:	n/a
27	chr1:146503900-146503950	ProgFib	skin:	n/a
28	chr1:146522416-146522466	Hela-S3	cervix:	n/a
29	chr1:146521800-146521850	AoSMC	blood vessel:	n/a
30	chr1:146494928-146494978	AG04449	skin:	fetal
31	chr1:146543596-146543646	AoSMC	blood vessel:	n/a
32	chr1:146516011-146516061	GM12892	blood:	n/a
33	chr1:146522365-146522415	SAEC	small airway:	n/a
34	chr1:146522492-146522542	IMR90	lung:	fetal
35	chr1:146498485-146498535	Hela-S3	cervix:	n/a
36	chr1:146544097-146544147	Hela-S3	cervix:	n/a
37	chr1:146522492-146522542	HepG2	liver:	n/a
38	chr1:146519025-146519075	HUVEC	blood vessel:	n/a
39	chr1:146521800-146521850	LNCaP	prostate:	n/a
40	chr1:146547564-146547614	BJ	skin:	n/a
41	chr1:146516011-146516061	T-47D	breast:	n/a
42	chr1:146543992-146544042	SK-N-SH_RA	brain:	n/a
43	chr1:146548469-146548519	Hela-S3	cervix:	n/a
44	chr1:146543992-146544042	BE2_C	brain:	n/a
45	chr1:146544645-146544695	HIPEpiC	eye:	n/a
46	chr1:146495202-146495252	HCM	heart:	n/a
47	chr1:146548469-146548519	A549	lung:	n/a
48	chr1:146544097-146544147	AG04450	lung:	fetal
49	chr1:146503900-146503950	RPTEC	kidney:	n/a
50	chr1:146544044-146544094	GM19239	blood:	n/a

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:146526066..146527690-chr1:146547733..146550722,2	MCF-7	breast:
2	chr1:146500894..146503604-chr1:146505375..146507725,2	MCF-7	breast:
3	chr1:146500715..146505145-chr1:146554885..146558544,5	MCF-7	breast:
4	chr1:146528549..146530712-chr1:146551544..146553259,2	K562	blood:
5	chr1:146527377..146530067-chr1:146546745..146548540,2	K562	blood:
6	chr1:146520193..146523021-chr1:146542603..146544431,2	MCF-7	breast:
7	chr1:146529272..146532255-chr1:146554616..146557776,4	K562	blood:
8	chr1:146524746..146527617-chr1:146553998..146556493,3	MCF-7	breast:
9	chr1:146526066..146527690-chr1:146547733..146550722,2	MCF-7	breast:
10	chr1:146528515..146532214-chr1:146553802..146557776,4	K562	blood:
11	chr1:146505925..146509776-chr1:146553090..146557502,5	K562	blood:
12	chr1:144891445..144893339-chr1:146502271..146504240,2	MCF-7	breast:
13	chr1:146523530..146527862-chr1:146554112..146557348,5	K562	blood:
14	chr1:146500874..146503757-chr1:146554554..146557584,3	K562	blood:
15	chr1:146533488..146536910-chr1:146554170..146556510,5	K562	blood:
16	chr1:144889740..144892703-chr1:146500075..146502138,3	MCF-7	breast:
17	chr1:146500894..146503604-chr1:146505375..146507725,2	MCF-7	breast:
18	chr1:146503324..146505730-chr1:146554828..146557692,2	K562	blood:
19	chr1:146542036..146544748-chr1:149223441..149225409,2	MCF-7	breast:
20	chr1:146512877..146514536-chr1:146516459..146518711,2	K562	blood:
21	chr1:146502664..146505503-chr1:146555291..146557477,4	MCF-7	breast:
22	chr1:146510544..146512904-chr1:146555893..146558120,2	K562	blood:
23	chr1:146497930..146500435-chr1:146553357..146556279,3	MCF-7	breast:
24	chr1:146510052..146513278-chr1:146553511..146556367,3	MCF-7	breast:
25	chr1:146527377..146530067-chr1:146546745..146548540,2	K562	blood:
26	chr1:144890884..144894068-chr1:146500995..146504405,3	K562	blood:
27	chr1:146505843..146507927-chr1:146554979..146557647,2	K562	blood:
28	chr1:146525668..146528622-chr1:146554429..146557542,4	K562	blood:
29	chr1:146518746..146520434-chr1:146527924..146529866,2	MCF-7	breast:
30	chr1:146529795..146532554-chr1:146543290..146546177,2	MCF-7	breast:
31	chr1:146518746..146520434-chr1:146527924..146529866,2	MCF-7	breast:
32	chr1:144883229..144886021-chr1:146495313..146498284,2	MCF-7	breast:
33	chr1:146500274..146502846-chr1:146563478..146565211,2	MCF-7	breast:
34	chr1:146512877..146514536-chr1:146516459..146518711,2	K562	blood:
35	chr1:146532723..146535338-chr1:146554228..146556510,3	K562	blood:
36	chr1:146529795..146532554-chr1:146543290..146546177,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRKAB2-6	chr1:146542981-146543443	NONHSAT005993
2	lnc-PRKAB2-6	chr1:146544010-146544117	NONHSAT005993

No data

Variant related genes	Relation type
NBPF13P	TF binding region
RNVU1-8	TF binding region
ENSG00000225603	TF binding region
NBPF13P	CpG island
RNVU1-8	CpG island
ENSG00000225603	CpG island
ENSG00000225603	chromatin interactions
ENSG00000230832	chromatin interactions
ENSG00000206737	chromatin interactions

Extended variants
information (count: 2501 )
Associated
traits (count: 157 )

Variant overlapped rSNPs/rCNVs (count:2501 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10900375	chr1:146494246-146494247	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs80089820	chr1:146494259-146494260	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371609025	chr1:146494270-146494271	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187278804	chr1:146494313-146494314	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs587728967	chr1:146494330-146494331	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587618836	chr1:146494370-146494371	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78525111	chr1:146494371-146494372	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192218299	chr1:146494375-146494376	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587762044	chr1:146494398-146494399	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587634871	chr1:146494407-146494408	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs587691874	chr1:146494420-146494421	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142770726	chr1:146494424-146494425	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146961519	chr1:146494471-146494472	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs587717965	chr1:146494482-146494483	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112430827	chr1:146494487-146494488	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs137984790	chr1:146494502-146494503	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs587647315	chr1:146494507-146494508	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34958799	chr1:146494510-146494511	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11587748	chr1:146494511-146494512	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs587682840	chr1:146494537-146494538	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs587739917	chr1:146494549-146494550	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs587596895	chr1:146494557-146494558	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs587672395	chr1:146494567-146494568	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201474313	chr1:146494568-146494569	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs587625885	chr1:146494578-146494579	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs587651658	chr1:146494608-146494609	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs587738861	chr1:146494621-146494622	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs587634823	chr1:146494663-146494664	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150664515	chr1:146494664-146494665	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs587769289	chr1:146494665-146494666	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs587614575	chr1:146494685-146494686	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183183902	chr1:146494715-146494716	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs587698348	chr1:146494719-146494720	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188949060	chr1:146494720-146494721	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs587652372	chr1:146494727-146494728	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs587729797	chr1:146494752-146494753	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374430617	chr1:146494788-146494789	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs587660113	chr1:146494920-146494921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs587737832	chr1:146494924-146494925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs80179587	chr1:146494929-146494930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs587596175	chr1:146494962-146494963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11240078	chr1:146494964-146494965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs587704495	chr1:146494968-146494969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139530264	chr1:146495002-146495003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs587680101	chr1:146495003-146495004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144186004	chr1:146495021-146495022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs587612516	chr1:146495031-146495032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs587665498	chr1:146495042-146495043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs587746973	chr1:146495050-146495051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs587619581	chr1:146495060-146495061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:157)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	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
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	17142309	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Anaplastic thyroid cancer	18753363	CNVD

Chromatin state (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146487200-146495000	Weak transcription	Liver	Liver
2	chr1:146493200-146494800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:146494800-146504200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:146501000-146502600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:146501400-146501600	Enhancers	NHEK	skin
6	chr1:146501600-146501800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:146501600-146506800	Weak transcription	NHEK	skin
8	chr1:146502600-146502800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:146502600-146503000	Bivalent Enhancer	HMEC	breast
10	chr1:146502800-146503000	Enhancers	HSMMtube	muscle
11	chr1:146502800-146503800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:146503800-146504200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:146503800-146504600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:146504200-146504400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:146504200-146504600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:146504600-146508800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:146506800-146507600	Enhancers	NHEK	skin
18	chr1:146507400-146507800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:146508800-146509200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:146509200-146509400	Flanking Active TSS	HUVEC	blood vessel
21	chr1:146509200-146509600	Enhancers	Primary T cells from cord blood	blood
22	chr1:146509200-146509600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr1:146509200-146509600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:146509200-146509600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:146509400-146509600	Enhancers	HUVEC	blood vessel
26	chr1:146509600-146510400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:146509600-146515000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:146510400-146514800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:146512400-146513200	Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr1:146512600-146513400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:146512800-146513000	Enhancers	Primary B cells from peripheral blood	blood
32	chr1:146513000-146513200	Enhancers	Primary B cells from cord blood	blood
33	chr1:146513000-146514200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr1:146513200-146513800	Active TSS	Primary T cells fromperipheralblood	blood
35	chr1:146513200-146514200	Weak transcription	Primary B cells from cord blood	blood
36	chr1:146513200-146514200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr1:146513400-146517800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:146514200-146514400	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr1:146514200-146521400	Enhancers	Primary B cells from cord blood	blood
40	chr1:146514200-146521800	Enhancers	Primary B cells from peripheral blood	blood
41	chr1:146514400-146514600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:146514600-146514800	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr1:146514800-146515000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr1:146514800-146517800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:146515000-146515800	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr1:146515000-146518400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:146515000-146520400	Enhancers	Primary hematopoietic stem cells	blood
48	chr1:146515200-146515400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr1:146515800-146516800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr1:146515800-146519000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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