Variant report

Variant	nsv999292
Chromosome Location	chr1:104067233-104225556
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	chr1:104068398-104069159	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:104103048-104103509	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:104076441-104076543	K562	blood:	n/a	n/a
4	ARID3A	chr1:104104781-104104969	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:104068425-104069462	K562	blood:	n/a	n/a
6	ATF2	chr1:104068276-104068823	GM12878	blood:	n/a	n/a
7	ATF2	chr1:104068246-104068748	GM12878	blood:	n/a	n/a
8	ATF2	chr1:104104531-104104991	GM12878	blood:	n/a	n/a
9	BATF	chr1:104068947-104069203	GM12878	blood:	n/a	n/a
10	BATF	chr1:104069989-104070340	GM12878	blood:	n/a	chr1:104070131-104070142
11	BATF	chr1:104163708-104163856	GM12878	blood:	n/a	n/a
12	BATF	chr1:104069996-104070255	GM12878	blood:	n/a	chr1:104070131-104070142
13	BATF	chr1:104163710-104163876	GM12878	blood:	n/a	n/a
14	BCL11A	chr1:104163716-104163847	GM12878	blood:	n/a	n/a
15	BCL11A	chr1:104163692-104163866	GM12878	blood:	n/a	n/a
16	BCL3	chr1:104081714-104081999	GM12878	blood:	n/a	n/a
17	BCLAF1	chr1:104104511-104104987	GM12878	blood:	n/a	n/a
18	BCLAF1	chr1:104068286-104068884	GM12878	blood:	n/a	n/a
19	BHLHE40	chr1:104163686-104163884	HepG2	liver:	n/a	n/a
20	BHLHE40	chr1:104069904-104070362	GM12878	blood:	n/a	n/a
21	BHLHE40	chr1:104104614-104104992	GM12878	blood:	n/a	n/a
22	BHLHE40	chr1:104067893-104069179	K562	blood:	n/a	n/a
23	BHLHE40	chr1:104068347-104069164	GM12878	blood:	n/a	n/a
24	BRCA1	chr1:104068338-104068741	HepG2	liver:	n/a	chr1:104068541-104068550
25	BRCA1	chr1:104068332-104068755	H1-hESC	embryonic stem cell:	n/a	chr1:104068541-104068550
26	BRCA1	chr1:104068257-104069233	Hela-S3	cervix:	n/a	chr1:104068541-104068550
27	BRCA1	chr1:104068347-104068826	GM12878	blood:	n/a	chr1:104068541-104068550
28	CBX3	chr1:104068335-104068703	K562	blood:	n/a	n/a
29	CBX3	chr1:104068298-104068668	K562	blood:	n/a	n/a
30	CCNT2	chr1:104068442-104069153	K562	blood:	n/a	n/a
31	CEBPB	chr1:104109284-104109624	IMR90	lung:	n/a	chr1:104109438-104109451 chr1:104109440-104109449 chr1:104109438-104109451 chr1:104109515-104109526 chr1:104109440-104109449 chr1:104109438-104109449 chr1:104109440-104109451 chr1:104109440-104109451 chr1:104109440-104109449 chr1:104109438-104109451 chr1:104109440-104109449
32	CEBPB	chr1:104109313-104109613	A549	lung:	n/a	chr1:104109438-104109451 chr1:104109440-104109449 chr1:104109438-104109451 chr1:104109515-104109526 chr1:104109440-104109449 chr1:104109438-104109449 chr1:104109440-104109451 chr1:104109440-104109451 chr1:104109440-104109449 chr1:104109438-104109451 chr1:104109440-104109449
33	CEBPB	chr1:104117700-104117982	IMR90	lung:	n/a	chr1:104117799-104117810
34	CEBPB	chr1:104071533-104071833	HepG2	liver:	n/a	chr1:104071695-104071706
35	CEBPB	chr1:104120629-104120899	HepG2	liver:	n/a	chr1:104120781-104120792 chr1:104120780-104120791 chr1:104120780-104120793
36	CEBPB	chr1:104109287-104109643	HepG2	liver:	n/a	chr1:104109438-104109451 chr1:104109440-104109449 chr1:104109438-104109451 chr1:104109515-104109526 chr1:104109440-104109449 chr1:104109438-104109449 chr1:104109440-104109451 chr1:104109440-104109451 chr1:104109440-104109449 chr1:104109438-104109451 chr1:104109440-104109449
37	CEBPB	chr1:104128801-104129380	HepG2	liver:	n/a	chr1:104128959-104128968 chr1:104128959-104128968 chr1:104128959-104128968 chr1:104128957-104128970
38	CEBPB	chr1:104120615-104120913	IMR90	lung:	n/a	chr1:104120781-104120792 chr1:104120780-104120791 chr1:104120780-104120793
39	CEBPB	chr1:104069315-104069645	K562	blood:	n/a	chr1:104069437-104069448
40	CEBPB	chr1:104104662-104104945	Hela-S3	cervix:	n/a	chr1:104104711-104104723
41	CEBPB	chr1:104071591-104071848	IMR90	lung:	n/a	chr1:104071695-104071706
42	CEBPB	chr1:104103108-104103415	HepG2	liver:	n/a	n/a
43	CEBPB	chr1:104098729-104098994	HepG2	liver:	n/a	n/a
44	CEBPB	chr1:104117717-104117917	HepG2	liver:	n/a	chr1:104117799-104117810
45	CEBPB	chr1:104067855-104068146	K562	blood:	n/a	n/a
46	CEBPB	chr1:104074143-104074222	HepG2	liver:	n/a	chr1:104074178-104074189
47	CEBPB	chr1:104120646-104120872	A549	lung:	n/a	chr1:104120781-104120792 chr1:104120780-104120791 chr1:104120780-104120793
48	CEBPB	chr1:104104635-104104975	HepG2	liver:	n/a	chr1:104104711-104104723
49	CEBPD	chr1:104163704-104163928	K562	blood:	n/a	n/a
50	CHD1	chr1:104069816-104070434	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:104112143-104112193	H1-hESC	embryonic stem cell:	embryo
2	chr1:104113039-104113089	K562	blood:	n/a
3	chr1:104112143-104112193	H1-hESC	embryonic stem cell:	embryo
4	chr1:104113039-104113089	K562	blood:	n/a
5	chr1:104113061-104113111	HRE	kidney:	n/a
6	chr1:104068567-104068617	SK-N-SH	brain:	n/a
7	chr1:104068567-104068617	HEEpiC	esophagus:	n/a
8	chr1:104068664-104068714	Jurkat	blood:	n/a
9	chr1:104068118-104068168	HEK293	kidney:	embryo
10	chr1:104068419-104068469	Caco-2	colon:	n/a
11	chr1:104096621-104096671	BJ	skin:	n/a
12	chr1:104068301-104068351	BJ	skin:	n/a
13	chr1:104068488-104068538	MCF-7	breast:	n/a
14	chr1:104160257-104160307	Caco-2	colon:	n/a
15	chr1:104160257-104160307	SK-N-SH_RA	brain:	n/a
16	chr1:104068603-104068653	HRE	kidney:	n/a
17	chr1:104096621-104096671	AG09309	skin:	n/a
18	chr1:104068121-104068171	GM12891	blood:	n/a
19	chr1:104112143-104112193	Hepatocyte	liver:	n/a
20	chr1:104068664-104068714	SK-N-MC	brain:	n/a
21	chr1:104068121-104068171	SKMC	muscle:	n/a
22	chr1:104111877-104111927	BE2_C	brain:	n/a
23	chr1:104068603-104068653	Hepatocyte	liver:	n/a
24	chr1:104068118-104068168	NHBE	bronchial:	n/a
25	chr1:104068603-104068653	HMEC	breast:	n/a
26	chr1:104068118-104068168	NH-A	brain:	n/a
27	chr1:104068419-104068469	Hela-S3	cervix:	n/a
28	chr1:104068664-104068714	NH-A	brain:	n/a
29	chr1:104112143-104112193	HNPCEpiC	eye:	n/a
30	chr1:104068301-104068351	NB4	blood:	n/a
31	chr1:104096621-104096671	GM19239	blood:	n/a
32	chr1:104068935-104068985	HAEpiC	amniotic membrane:	n/a
33	chr1:104068312-104068362	HAEpiC	amniotic membrane:	n/a
34	chr1:104068490-104068540	T-47D	breast:	n/a
35	chr1:104112143-104112193	AG10803	skin:	n/a
36	chr1:104068704-104068754	PFSK-1	brain:	n/a
37	chr1:104068419-104068469	GM12892	blood:	n/a
38	chr1:104160257-104160307	HCM	heart:	n/a
39	chr1:104068567-104068617	AG09319	gingival:	n/a
40	chr1:104160257-104160307	NT2-D1	testis:	n/a
41	chr1:104068419-104068469	HRCEpiC	kidney:	n/a
42	chr1:104068664-104068714	HRCEpiC	kidney:	n/a
43	chr1:104068301-104068351	MCF10A-Er-Src	breast:	n/a
44	chr1:104096621-104096671	HUVEC	blood vessel:	n/a
45	chr1:104113061-104113111	PANC-1	pancreas:	n/a
46	chr1:104113061-104113111	NHDF-neo	bronchial:	n/a
47	chr1:104096621-104096671	HPAEpiC	pulmonary alveolar:	n/a
48	chr1:104068490-104068540	NB4	blood:	n/a
49	chr1:104113061-104113111	AG04450	lung:	fetal
50	chr1:104068312-104068362	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:104067350..104071361-chr1:104071688..104074634,4	K562	blood:
2	chr1:104084688..104087612-chr1:104092885..104095420,2	K562	blood:
3	chr1:104068563..104070409-chr1:104091369..104094625,4	MCF-7	breast:
4	chr1:104087556..104090106-chr1:104096002..104097509,2	K562	blood:
5	chr1:104067956..104068800-chr18:9474823..9475445,2	Hela-S3	cervix:
6	chr1:104067752..104069863-chr1:104085885..104087467,2	MCF-7	breast:
7	chr1:104067350..104070075-chr1:104070516..104073483,5	K562	blood:
8	chr1:104075755..104077597-chr1:104090154..104091919,2	K562	blood:
9	chr1:104120354..104123298-chr1:104128850..104131166,2	K562	blood:
10	chr1:104120354..104123298-chr1:104128850..104131166,2	K562	blood:
11	chr1:104068373..104071907-chr1:104081557..104086760,7	K562	blood:
12	chr1:104067221..104069850-chr1:104074751..104077723,3	MCF-7	breast:
13	chr1:104068563..104070409-chr1:104091369..104094625,4	MCF-7	breast:
14	chr1:104075755..104077597-chr1:104090154..104091919,2	K562	blood:
15	chr1:104068373..104071907-chr1:104081557..104086760,7	K562	blood:
16	chr1:104087556..104090106-chr1:104096002..104097509,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AMY1B-1	chr1:104068018-104068139	XLOC_000945
2	lnc-AMY1B-1	chr1:104068018-104068115	XLOC_000945
3	lnc-AMY1B-1	chr1:104068018-104068105	XLOC_000945
4	lnc-AMY1B-1	chr1:104068018-104068139	XLOC_000945
5	lnc-AMY1B-1	chr1:104068018-104068139	XLOC_000945
6	lnc-AMY1B-1	chr1:104068018-104068083	ENSG00000224613.2

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	RNPC3	hsa-miR-192-5p	chr1:104096163-104096184

Variant related genes	Relation type
RNPC3	TF binding region
ENSG00000234441	TF binding region
AMY2A	TF binding region
ACTG1P4	TF binding region
AMY1A	TF binding region
AMY2B	TF binding region
ENSG00000224613	TF binding region
RNPC3	CpG island
ENSG00000234441	CpG island
AMY2A	CpG island
ACTG1P4	CpG island
AMY1A	CpG island
AMY2B	CpG island
ENSG00000224613	CpG island
ENSG00000224613	chromatin interactions
ENSG00000017797	chromatin interactions
ENSG00000240038	chromatin interactions
ENSG00000185946	chromatin interactions
TOMM34	miRNA target sites

Extended variants
information (count: 2629 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:2629 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574024680	chr1:104067238-104067239	Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs534795252	chr1:104067246-104067247	Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs553232730	chr1:104067321-104067322	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7538379	chr1:104067356-104067357	Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs575987483	chr1:104067374-104067375	Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs115681068	chr1:104067387-104067388	Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs182353164	chr1:104067398-104067399	Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs150519907	chr1:104067425-104067426	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs561950172	chr1:104067444-104067445	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs575173414	chr1:104067455-104067456	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs542298635	chr1:104067500-104067501	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs187679635	chr1:104067542-104067543	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs528784899	chr1:104067564-104067565	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs547589598	chr1:104067582-104067583	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs546759891	chr1:104067595-104067596	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs192633388	chr1:104067600-104067601	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs532461147	chr1:104067604-104067605	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs551058807	chr1:104067606-104067607	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs28558115	chr1:104067608-104067609	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs538656276	chr1:104067722-104067723	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs200968943	chr1:104067737-104067738	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs368947863	chr1:104067738-104067739	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs202090325	chr1:104067739-104067740	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs201687120	chr1:104067750-104067751	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs542601987	chr1:104067758-104067759	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs533017819	chr1:104067767-104067768	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs536643962	chr1:104067789-104067790	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs116635881	chr1:104067864-104067865	Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs370747438	chr1:104067865-104067866	Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs76324549	chr1:104067877-104067878	Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs185133672	chr1:104067891-104067892	Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs571421240	chr1:104067917-104067918	Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs538502990	chr1:104067964-104067965	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs78290040	chr1:104068029-104068030	Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs557008491	chr1:104068038-104068039	Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs575278223	chr1:104068097-104068098	Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs542191804	chr1:104068276-104068277	Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs554163440	chr1:104068337-104068338	Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs368107151	chr1:104068379-104068380	Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs573163787	chr1:104068425-104068426	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs570077425	chr1:104068459-104068460	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs565291953	chr1:104068504-104068505	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs532738647	chr1:104068590-104068591	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs188456106	chr1:104068651-104068652	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs41299553	chr1:104068680-104068681	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs530164593	chr1:104068715-104068716	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs374597633	chr1:104068755-104068756	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs548979249	chr1:104068762-104068763	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs566889438	chr1:104068763-104068764	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs559208129	chr1:104068783-104068784	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	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
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Schizophrenia	20967226	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	19287141	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1501 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:104043200-104067400	Weak transcription	Aorta	Aorta
2	chr1:104050000-104067400	Weak transcription	Left Ventricle	heart
3	chr1:104059800-104067400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:104059800-104067400	Weak transcription	Osteobl	bone
5	chr1:104060400-104067400	Weak transcription	Fetal Heart	heart
6	chr1:104060600-104067400	Weak transcription	HUVEC	blood vessel
7	chr1:104061000-104067400	Weak transcription	GM12878-XiMat	blood
8	chr1:104062400-104067400	Weak transcription	Right Ventricle	heart
9	chr1:104064800-104067400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:104065000-104067400	Weak transcription	Pancreas	Pancrea
11	chr1:104065200-104067800	Enhancers	Fetal Intestine Large	intestine
12	chr1:104065800-104067800	Weak transcription	Fetal Stomach	stomach
13	chr1:104066200-104067400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:104066400-104067400	Active TSS	Psoas Muscle	Psoas
15	chr1:104066400-104067400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:104066600-104067600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr1:104066800-104067400	Enhancers	Dnd41	blood
18	chr1:104066800-104067400	Enhancers	K562	blood
19	chr1:104067000-104067400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:104067000-104067400	Enhancers	HepG2	liver
21	chr1:104067000-104067400	Enhancers	NHEK	skin
22	chr1:104067000-104067600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:104067200-104067400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:104067200-104067400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:104067200-104067400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:104067200-104067400	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr1:104067200-104067400	Enhancers	Hela-S3	cervix
28	chr1:104067200-104067400	Enhancers	HMEC	breast
29	chr1:104067200-104067600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr1:104067200-104067800	Enhancers	Fetal Intestine Small	intestine
31	chr1:104067200-104067800	Enhancers	Placenta	Placenta
32	chr1:104067200-104071400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:104067400-104067600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr1:104067400-104067600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:104067400-104067600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:104067400-104067600	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr1:104067400-104067600	Enhancers	Primary B cells from peripheral blood	blood
38	chr1:104067400-104067600	Enhancers	Primary T cells from cord blood	blood
39	chr1:104067400-104067600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:104067400-104067600	Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr1:104067400-104067600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:104067400-104067600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr1:104067400-104067600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr1:104067400-104067600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:104067400-104067600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:104067400-104067600	Enhancers	Adipose Nuclei	Adipose
47	chr1:104067400-104067600	Enhancers	Liver	Liver
48	chr1:104067400-104067600	Enhancers	Brain Angular Gyrus	brain
49	chr1:104067400-104067600	Enhancers	Brain Hippocampus Middle	brain
50	chr1:104067400-104067600	Enhancers	Duodenum Mucosa	Duodenum

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