Variant report

Variant	esv1832550
Chromosome Location	chr1:103913907-104337600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1609)
CpG islands
(count:1343)
Chromatin interactive
region (count:24)
LncRNA
region (count:26)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1609 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

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	chr1:104332136-104332202	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:104068425-104069462	K562	blood:	n/a	n/a
4	ARID3A	chr1:104076441-104076543	K562	blood:	n/a	n/a
5	ARID3A	chr1:104103048-104103509	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:104104781-104104969	HepG2	liver:	n/a	n/a
7	ATF2	chr1:104068276-104068823	GM12878	blood:	n/a	n/a
8	ATF2	chr1:104060167-104060706	GM12878	blood:	n/a	n/a
9	ATF2	chr1:104068246-104068748	GM12878	blood:	n/a	n/a
10	ATF2	chr1:104060069-104060653	GM12878	blood:	n/a	n/a
11	ATF2	chr1:104104531-104104991	GM12878	blood:	n/a	n/a
12	BATF	chr1:104069989-104070340	GM12878	blood:	n/a	chr1:104070131-104070142
13	BATF	chr1:104068947-104069203	GM12878	blood:	n/a	n/a
14	BATF	chr1:104163708-104163856	GM12878	blood:	n/a	n/a
15	BATF	chr1:104069996-104070255	GM12878	blood:	n/a	chr1:104070131-104070142
16	BATF	chr1:104059876-104060357	GM12878	blood:	n/a	chr1:104060014-104060024 chr1:104060094-104060103
17	BATF	chr1:104163710-104163876	GM12878	blood:	n/a	n/a
18	BCL11A	chr1:104163692-104163866	GM12878	blood:	n/a	n/a
19	BCL11A	chr1:104163716-104163847	GM12878	blood:	n/a	n/a
20	BCL3	chr1:104081714-104081999	GM12878	blood:	n/a	n/a
21	BCLAF1	chr1:104057548-104057847	GM12878	blood:	n/a	n/a
22	BCLAF1	chr1:104104511-104104987	GM12878	blood:	n/a	n/a
23	BCLAF1	chr1:104068286-104068884	GM12878	blood:	n/a	n/a
24	BHLHE40	chr1:104104614-104104992	GM12878	blood:	n/a	n/a
25	BHLHE40	chr1:104163686-104163884	HepG2	liver:	n/a	n/a
26	BHLHE40	chr1:104069904-104070362	GM12878	blood:	n/a	n/a
27	BHLHE40	chr1:104068347-104069164	GM12878	blood:	n/a	n/a
28	BHLHE40	chr1:104067893-104069179	K562	blood:	n/a	n/a
29	BRCA1	chr1:104068257-104069233	Hela-S3	cervix:	n/a	chr1:104068541-104068550
30	BRCA1	chr1:104068332-104068755	H1-hESC	embryonic stem cell:	n/a	chr1:104068541-104068550
31	BRCA1	chr1:104068347-104068826	GM12878	blood:	n/a	chr1:104068541-104068550
32	BRCA1	chr1:104068338-104068741	HepG2	liver:	n/a	chr1:104068541-104068550
33	BRCA1	chr1:104326501-104326782	GM12878	blood:	n/a	n/a
34	CBX3	chr1:104068298-104068668	K562	blood:	n/a	n/a
35	CBX3	chr1:104068335-104068703	K562	blood:	n/a	n/a
36	CCNT2	chr1:104068442-104069153	K562	blood:	n/a	n/a
37	CEBPB	chr1:104117717-104117917	HepG2	liver:	n/a	chr1:104117799-104117810
38	CEBPB	chr1:104104635-104104975	HepG2	liver:	n/a	chr1:104104711-104104723
39	CEBPB	chr1:104032490-104032842	Hela-S3	cervix:	n/a	chr1:104032645-104032656
40	CEBPB	chr1:104120629-104120899	HepG2	liver:	n/a	chr1:104120781-104120792 chr1:104120780-104120791 chr1:104120780-104120793
41	CEBPB	chr1:104071533-104071833	HepG2	liver:	n/a	chr1:104071695-104071706
42	CEBPB	chr1:103913905-103914207	IMR90	lung:	n/a	n/a
43	CEBPB	chr1:104120646-104120872	A549	lung:	n/a	chr1:104120781-104120792 chr1:104120780-104120791 chr1:104120780-104120793
44	CEBPB	chr1:104063491-104063778	IMR90	lung:	n/a	n/a
45	CEBPB	chr1:104067855-104068146	K562	blood:	n/a	n/a
46	CEBPB	chr1:104033511-104033829	K562	blood:	n/a	chr1:104033682-104033693
47	CEBPB	chr1:104032495-104032827	HepG2	liver:	n/a	chr1:104032645-104032656
48	CEBPB	chr1:104117700-104117982	IMR90	lung:	n/a	chr1:104117799-104117810
49	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
50	CEBPB	chr1:104128801-104129380	HepG2	liver:	n/a	chr1:104128959-104128968 chr1:104128959-104128968 chr1:104128959-104128968 chr1:104128957-104128970

(count:1343 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:104068567-104068617	AG09319	gingival:	n/a
2	chr1:104068567-104068617	AG09319	gingival:	n/a
3	chr1:104112143-104112193	HNPCEpiC	eye:	n/a
4	chr1:104068118-104068168	AG10803	skin:	n/a
5	chr1:104068490-104068540	HL-60	blood:	n/a
6	chr1:104068121-104068171	PANC-1	pancreas:	n/a
7	chr1:104068419-104068469	NH-A	brain:	n/a
8	chr1:104068490-104068540	AoSMC	blood vessel:	n/a
9	chr1:104068490-104068540	HIPEpiC	eye:	n/a
10	chr1:104112143-104112193	A549	lung:	n/a
11	chr1:104097670-104097720	BJ	skin:	n/a
12	chr1:104065263-104065313	SKMC	muscle:	n/a
13	chr1:104160257-104160307	HNPCEpiC	eye:	n/a
14	chr1:104068664-104068714	T-47D	breast:	n/a
15	chr1:104068490-104068540	NB4	blood:	n/a
16	chr1:104068118-104068168	HL-60	blood:	n/a
17	chr1:104239696-104239746	PFSK-1	brain:	n/a
18	chr1:104111877-104111927	PFSK-1	brain:	n/a
19	chr1:104112143-104112193	GM12891	blood:	n/a
20	chr1:104065263-104065313	GM06990	blood:	n/a
21	chr1:104068567-104068617	HCPEpiC	choroid plexus:	n/a
22	chr1:104068312-104068362	HAEpiC	amniotic membrane:	n/a
23	chr1:104068312-104068362	ProgFib	skin:	n/a
24	chr1:104068567-104068617	HCM	heart:	n/a
25	chr1:104068488-104068538	SK-N-SH	brain:	n/a
26	chr1:104068488-104068538	GM12878	blood:	n/a
27	chr1:104096517-104096567	HAEpiC	amniotic membrane:	n/a
28	chr1:104239696-104239746	ECC-1	luminal epithelium:	n/a
29	chr1:104068301-104068351	AG10803	skin:	n/a
30	chr1:104096621-104096671	BE2_C	brain:	n/a
31	chr1:104068490-104068540	AG10803	skin:	n/a
32	chr1:104068488-104068538	HEK293	kidney:	embryo
33	chr1:104065263-104065313	MCF-7	breast:	n/a
34	chr1:104068567-104068617	HNPCEpiC	eye:	n/a
35	chr1:104068603-104068653	HUVEC	blood vessel:	n/a
36	chr1:104160257-104160307	AG09319	gingival:	n/a
37	chr1:104068312-104068362	GM12878	blood:	n/a
38	chr1:104068301-104068351	SAEC	small airway:	n/a
39	chr1:104068603-104068653	NH-A	brain:	n/a
40	chr1:104111877-104111927	HEEpiC	esophagus:	n/a
41	chr1:104068603-104068653	GM12891	blood:	n/a
42	chr1:104097670-104097720	PFSK-1	brain:	n/a
43	chr1:104068664-104068714	GM06990	blood:	n/a
44	chr1:104065263-104065313	HEEpiC	esophagus:	n/a
45	chr1:104239696-104239746	HPAEpiC	pulmonary alveolar:	n/a
46	chr1:104160257-104160307	HEK293	kidney:	embryo
47	chr1:104068704-104068754	NHDF-neo	bronchial:	n/a
48	chr1:104068488-104068538	HPAEpiC	pulmonary alveolar:	n/a
49	chr1:104160257-104160307	AG09309	skin:	n/a
50	chr1:104068419-104068469	HepG2	liver:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:104067956..104068800-chr18:9474823..9475445,2	Hela-S3	cervix:
2	chr1:104120354..104123298-chr1:104128850..104131166,2	K562	blood:
3	chr1:104068373..104071907-chr1:104081557..104086760,7	K562	blood:
4	chr1:104087556..104090106-chr1:104096002..104097509,2	K562	blood:
5	chr1:104320249..104323301-chr1:104334806..104337281,3	K562	blood:
6	chr1:104330211..104331667-chr1:104674701..104675769,4	MCF-7	breast:
7	chr1:104320249..104323301-chr1:104334806..104337281,3	K562	blood:
8	chr1:104067752..104069863-chr1:104085885..104087467,2	MCF-7	breast:
9	chr1:104068373..104071907-chr1:104081557..104086760,7	K562	blood:
10	chr1:104067221..104069850-chr1:104074751..104077723,3	MCF-7	breast:
11	chr1:103571462..103572103-chr1:104003560..104004261,2	MCF-7	breast:
12	chr1:104120354..104123298-chr1:104128850..104131166,2	K562	blood:
13	chr1:104075755..104077597-chr1:104090154..104091919,2	K562	blood:
14	chr1:104067350..104070075-chr1:104070516..104073483,5	K562	blood:
15	chr1:104087556..104090106-chr1:104096002..104097509,2	K562	blood:
16	chr1:104068563..104070409-chr1:104091369..104094625,4	MCF-7	breast:
17	chr1:104307678..104310486-chr1:104333154..104335185,2	K562	blood:
18	chr1:104307678..104310486-chr1:104333154..104335185,2	K562	blood:
19	chr1:104330809..104331725-chr1:104675161..104675727,2	MCF-7	breast:
20	chr1:104084688..104087612-chr1:104092885..104095420,2	K562	blood:
21	chr1:103571876..103572435-chr1:104003675..104004308,2	MCF-7	breast:
22	chr1:104068563..104070409-chr1:104091369..104094625,4	MCF-7	breast:
23	chr1:104067350..104071361-chr1:104071688..104074634,4	K562	blood:
24	chr1:104075755..104077597-chr1:104090154..104091919,2	K562	blood:

(count:26 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AMY1B-1	chr1:104068018-104068139	XLOC_000945
2	lnc-AMY1B-1	chr1:103961376-103961437	XLOC_000945
3	lnc-AMY1B-1	chr1:103961376-103961437	ENSG00000224613.2
4	lnc-AMY1B-1	chr1:103975513-103975718	XLOC_000945
5	lnc-RNPC3-4	chr1:104066184-104066501	NONHSAT004893
6	lnc-AMY1B-1	chr1:104011964-104012012	ENSG00000224613.2
7	lnc-AMY1B-1	chr1:103960701-103960846	XLOC_000945
8	lnc-AMY1B-1	chr1:104068018-104068083	ENSG00000224613.2
9	lnc-AMY1B-1	chr1:103971909-103971995	XLOC_000945
10	lnc-AMY1B-1	chr1:104011964-104012014	XLOC_000945
11	lnc-AMY1B-1	chr1:103971909-103971995	XLOC_000945
12	lnc-AMY1B-1	chr1:103971909-103971995	XLOC_000945
13	lnc-AMY1B-1	chr1:103975513-103975718	XLOC_000945
14	lnc-AMY1B-1	chr1:103975600-103975718	XLOC_000945
15	lnc-AMY1B-1	chr1:104068018-104068139	XLOC_000945
16	lnc-AMY1B-1	chr1:103975513-103975718	XLOC_000945
17	lnc-AMY1B-1	chr1:103971909-103971995	ENSG00000224613.2
18	lnc-AMY1B-1	chr1:104068018-104068115	XLOC_000945
19	lnc-AMY1B-1	chr1:104068018-104068139	XLOC_000945
20	lnc-RNPC3-1	chr1:103957501-103957557	XLOC_000325
21	lnc-AMY1B-1	chr1:103975513-103975718	XLOC_000945
22	lnc-AMY1B-1	chr1:103975513-103975718	ENSG00000224613.2
23	lnc-RNPC3-1	chr1:103967727-103968087	XLOC_000325
24	lnc-AMY1B-1	chr1:103961391-103961437	XLOC_000945
25	lnc-AMY1B-1	chr1:104068018-104068105	XLOC_000945
26	lnc-AMY1B-1	chr1:103971909-103971995	XLOC_000945

No data

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

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

Variant related genes	Relation type
AMY1C	TF binding region
ACTG1P4	TF binding region
AMY1A	TF binding region
ENSG00000224613	TF binding region
RNPC3	TF binding region
ENSG00000230759	TF binding region
AMY1B	TF binding region
ENSG00000234441	TF binding region
AMY2A	TF binding region
AMYP1	TF binding region
RN7SKP285	TF binding region
AMY2B	TF binding region
AMY1C	CpG island
ACTG1P4	CpG island
AMY1A	CpG island
ENSG00000224613	CpG island
RNPC3	CpG island
ENSG00000230759	CpG island
AMY1B	CpG island
ENSG00000234441	CpG island
AMY2A	CpG island
AMYP1	CpG island
RN7SKP285	CpG island
AMY2B	CpG island
ENSG00000185946	chromatin interactions
ENSG00000240038	chromatin interactions
ENSG00000017797	chromatin interactions
ENSG00000224613	chromatin interactions
TOMM20	miRNA target sites
TOMM34	miRNA target sites
TOM1L2	miRNA target sites

Extended variants
information (count: 4512 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:4512 , 50 per page) page: 1 2 3 4 5 6 7 ... 91

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373074218	chr1:103913956-103913957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370484358	chr1:103914004-103914005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563491636	chr1:103914016-103914017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531042218	chr1:103914126-103914127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147990333	chr1:103914211-103914212	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141617544	chr1:103914216-103914217	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535635987	chr1:103914257-103914258	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547421572	chr1:103914277-103914278	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534503431	chr1:103914298-103914299	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150080245	chr1:103914355-103914356	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115215576	chr1:103914369-103914370	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28576594	chr1:103914533-103914534	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575921487	chr1:103914542-103914543	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138739047	chr1:103914598-103914599	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376020376	chr1:103914600-103914601	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs555031714	chr1:103914607-103914608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538461299	chr1:103914632-103914633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72692392	chr1:103914661-103914662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556668901	chr1:103914734-103914735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529594117	chr1:103914776-103914777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142554350	chr1:103914796-103914797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375756057	chr1:103914797-103914798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547936832	chr1:103914830-103914831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566161725	chr1:103914878-103914879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142727266	chr1:103914989-103914990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375953132	chr1:103914995-103914996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs578201549	chr1:103915035-103915036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12096158	chr1:103915049-103915050	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs545342095	chr1:103915052-103915053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189549317	chr1:103915058-103915059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6657566	chr1:103915062-103915063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181970407	chr1:103915110-103915111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368656557	chr1:103915123-103915124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527337031	chr1:103915132-103915133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184747788	chr1:103915140-103915141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555165181	chr1:103915194-103915195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188761620	chr1:103915210-103915211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547580400	chr1:103915328-103915329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181553403	chr1:103915385-103915386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533281607	chr1:103915395-103915396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570251456	chr1:103915400-103915401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569349373	chr1:103915445-103915446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146327802	chr1:103915449-103915450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537446399	chr1:103915454-103915455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186034352	chr1:103915455-103915456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191083252	chr1:103915456-103915457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567022482	chr1:103915457-103915458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367622172	chr1:103915479-103915480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553545613	chr1:103915484-103915485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181467460	chr1:103915499-103915500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
Ewing''s sarcoma	17952124	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
Hypoplastic left heart syndrome	22349727	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	19287141	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:1625 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103913800-103914200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:103913800-103915400	Enhancers	Adipose Nuclei	Adipose
3	chr1:103914000-103914600	Enhancers	Fetal Heart	heart
4	chr1:103914000-103915400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:103914200-103914600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:103914200-103914600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:103914200-103916200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:103914600-103914800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:103914600-103916200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:103914800-103915800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:103915600-103916200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:103915800-103916200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:103920200-103920600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:104003600-104005400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:104003800-104005400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:104004600-104005200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:104004600-104005200	Enhancers	HUVEC	blood vessel
18	chr1:104004800-104005200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:104004800-104005200	Enhancers	HMEC	breast
20	chr1:104008600-104009600	Weak transcription	Aorta	Aorta
21	chr1:104009600-104010400	Strong transcription	Aorta	Aorta
22	chr1:104010400-104015800	Weak transcription	Aorta	Aorta
23	chr1:104021600-104025800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:104032400-104032800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:104032400-104033000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr1:104032400-104033000	Enhancers	Hela-S3	cervix
27	chr1:104032600-104033000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:104032800-104033000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:104033000-104034800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:104033000-104038000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:104034400-104038600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:104034800-104035000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:104034800-104035200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:104035200-104040000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:104037200-104039400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:104038000-104040600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr1:104038600-104040600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:104038800-104039000	Enhancers	Osteobl	bone
39	chr1:104038800-104039600	Enhancers	NHLF	lung
40	chr1:104039000-104039400	Enhancers	NH-A	brain
41	chr1:104039000-104040000	Weak transcription	Osteobl	bone
42	chr1:104039000-104041400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:104039200-104039400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:104039200-104040600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:104039400-104040000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:104039400-104041200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:104039400-104041400	Enhancers	HMEC	breast
48	chr1:104039600-104040600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:104040000-104040400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:104040000-104040400	Enhancers	Osteobl	bone

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