Variant report

Variant	nsv829430
Chromosome Location	chr2:55843689-55844381
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:333)
CpG islands
(count:244)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr2:55844198-55845416	A549	lung:	n/a	n/a
2	BHLHE40	chr2:55843601-55846225	K562	blood:	n/a	n/a
3	BHLHE40	chr2:55843614-55845232	HepG2	liver:	n/a	n/a
4	BHLHE40	chr2:55843607-55844198	GM12878	blood:	n/a	n/a
5	BRCA1	chr2:55843994-55844113	HepG2	liver:	n/a	n/a
6	CBX3	chr2:55844209-55845370	HCT-116	colon:	n/a	n/a
7	CCNT2	chr2:55844124-55845338	K562	blood:	n/a	n/a
8	CEBPB	chr2:55844075-55845120	HepG2	liver:	n/a	n/a
9	CHD1	chr2:55843055-55846158	GM12878	blood:	n/a	n/a
10	CHD1	chr2:55843694-55844842	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr2:55843634-55846218	Hela-S3	cervix:	n/a	n/a
12	CHD2	chr2:55844309-55845459	K562	blood:	n/a	n/a
13	CHD2	chr2:55843723-55843890	HepG2	liver:	n/a	n/a
14	CHD2	chr2:55844146-55846183	GM12878	blood:	n/a	n/a
15	CREB1	chr2:55844255-55845205	A549	lung:	n/a	n/a
16	CREB1	chr2:55843785-55846231	HepG2	liver:	n/a	n/a
17	CTCF	chr2:55844060-55844210	GM12871	blood:	n/a	n/a
18	CTCF	chr2:55843640-55843790	HMEC	breast:	n/a	n/a
19	CTCF	chr2:55843620-55843770	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr2:55843660-55843810	GM12873	blood:	n/a	n/a
21	CTCF	chr2:55843640-55843790	AG10803	skin:	n/a	n/a
22	CTCF	chr2:55843680-55843830	HRPEpiC	eye:	n/a	n/a
23	CTCF	chr2:55843600-55843750	MCF-7	breast:	n/a	n/a
24	CTCF	chr2:55844280-55844430	NHEK	skin:	n/a	n/a
25	CTCF	chr2:55843640-55843790	HPF	lung:	n/a	n/a
26	CTCF	chr2:55843640-55843790	GM12873	blood:	n/a	n/a
27	E2F4	chr2:55844159-55845210	K562	blood:	n/a	chr2:55844893-55844904 chr2:55844978-55844990 chr2:55844568-55844583
28	ELF1	chr2:55844092-55845156	GM12878	blood:	n/a	n/a
29	ELF1	chr2:55844143-55846304	HCT-116	colon:	n/a	n/a
30	ELF1	chr2:55844257-55846269	MCF-7	breast:	n/a	n/a
31	ELF1	chr2:55844126-55845422	GM12878	blood:	n/a	n/a
32	ELK1	chr2:55843746-55844233	GM12878	blood:	n/a	n/a
33	EP300	chr2:55843545-55844081	HepG2	liver:	n/a	n/a
34	EP300	chr2:55843610-55843923	GM12878	blood:	n/a	n/a
35	EP300	chr2:55844359-55845297	HepG2	liver:	n/a	n/a
36	EP300	chr2:55843718-55844356	GM12878	blood:	n/a	n/a
37	EP300	chr2:55844334-55845281	A549	lung:	n/a	n/a
38	EP300	chr2:55843551-55845331	ECC-1	luminal epithelium:	n/a	n/a
39	EP300	chr2:55843620-55844185	GM12878	blood:	n/a	n/a
40	ETS1	chr2:55844146-55845466	A549	lung:	n/a	n/a
41	FOS	chr2:55843646-55843837	MCF10A-Er-Src	breast:	n/a	n/a
42	FOXA1	chr2:55843607-55844241	HepG2	liver:	n/a	chr2:55843932-55843944
43	FOXA1	chr2:55843585-55844195	HepG2	liver:	n/a	chr2:55843932-55843944
44	FOXA1	chr2:55843665-55844190	HepG2	liver:	n/a	chr2:55843932-55843944
45	FOXA1	chr2:55843704-55844060	T-47D	breast:	n/a	chr2:55843932-55843944
46	FOXA1	chr2:55843774-55844038	T-47D	breast:	n/a	chr2:55843932-55843944
47	FOXA1	chr2:55843627-55844108	HepG2	liver:	n/a	chr2:55843932-55843944
48	FOXA2	chr2:55843680-55844080	HepG2	liver:	n/a	chr2:55843932-55843944
49	FOXA2	chr2:55843642-55844259	A549	lung:	n/a	chr2:55843932-55843944
50	FOXA2	chr2:55843646-55844308	A549	lung:	n/a	chr2:55843932-55843944

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:55844294-55844344	CMK	blood:	n/a
2	chr2:55843804-55843854	HCT-116	colon:	n/a
3	chr2:55844203-55844253	HNPCEpiC	eye:	n/a
4	chr2:55843804-55843854	HL-60	blood:	n/a
5	chr2:55843772-55843822	SKMC	muscle:	n/a
6	chr2:55844203-55844253	CMK	blood:	n/a
7	chr2:55844203-55844253	HepG2	liver:	n/a
8	chr2:55844203-55844253	HIPEpiC	eye:	n/a
9	chr2:55844203-55844253	ECC-1	luminal epithelium:	n/a
10	chr2:55844203-55844253	NH-A	brain:	n/a
11	chr2:55843804-55843854	SAEC	small airway:	n/a
12	chr2:55843772-55843822	RPTEC	kidney:	n/a
13	chr2:55843772-55843822	NHDF-neo	bronchial:	n/a
14	chr2:55843804-55843854	PANC-1	pancreas:	n/a
15	chr2:55843772-55843822	Caco-2	colon:	n/a
16	chr2:55844203-55844253	HPAEpiC	pulmonary alveolar:	n/a
17	chr2:55844203-55844253	LNCaP	prostate:	n/a
18	chr2:55844203-55844253	NB4	blood:	n/a
19	chr2:55843804-55843854	ECC-1	luminal epithelium:	n/a
20	chr2:55843804-55843854	CMK	blood:	n/a
21	chr2:55844203-55844253	GM19239	blood:	n/a
22	chr2:55844294-55844344	HEEpiC	esophagus:	n/a
23	chr2:55843772-55843822	IMR90	lung:	fetal
24	chr2:55843772-55843822	HCT-116	colon:	n/a
25	chr2:55844203-55844253	MCF10A-Er-Src	breast:	n/a
26	chr2:55843804-55843854	HRCEpiC	kidney:	n/a
27	chr2:55843804-55843854	AG09309	skin:	n/a
28	chr2:55843804-55843854	AG04449	skin:	fetal
29	chr2:55844294-55844344	GM19239	blood:	n/a
30	chr2:55843772-55843822	CMK	blood:	n/a
31	chr2:55843804-55843854	HCPEpiC	choroid plexus:	n/a
32	chr2:55843804-55843854	HEEpiC	esophagus:	n/a
33	chr2:55843772-55843822	HRPEpiC	eye:	n/a
34	chr2:55844294-55844344	AG04449	skin:	fetal
35	chr2:55844294-55844344	SKMC	muscle:	n/a
36	chr2:55843772-55843822	HCM	heart:	n/a
37	chr2:55844203-55844253	SKMC	muscle:	n/a
38	chr2:55843772-55843822	HepG2	liver:	n/a
39	chr2:55843804-55843854	SK-N-MC	brain:	n/a
40	chr2:55844203-55844253	NHDF-neo	bronchial:	n/a
41	chr2:55843804-55843854	BJ	skin:	n/a
42	chr2:55844203-55844253	K562	blood:	n/a
43	chr2:55844294-55844344	HRCEpiC	kidney:	n/a
44	chr2:55844294-55844344	AoSMC	blood vessel:	n/a
45	chr2:55843804-55843854	NH-A	brain:	n/a
46	chr2:55844203-55844253	SK-N-SH_RA	brain:	n/a
47	chr2:55844203-55844253	AG04449	skin:	fetal
48	chr2:55843804-55843854	NHDF-neo	bronchial:	n/a
49	chr2:55844203-55844253	Hela-S3	cervix:	n/a
50	chr2:55844203-55844253	A549	lung:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55643936..55648492-chr2:55843198..55848689,6	K562	blood:
2	chr2:55841795..55844862-chr2:55919047..55922552,3	K562	blood:
3	chr2:55843805..55846748-chr2:55896170..55899222,4	MCF-7	breast:
4	chr2:55843362..55845607-chr2:55918078..55921710,3	K562	blood:
5	chr2:55746181..55748765-chr2:55843177..55845713,3	MCF-7	breast:
6	chr2:55644452..55648722-chr2:55843350..55848689,7	K562	blood:
7	chr15:52859559..52861665-chr2:55842687..55845255,2	MCF-7	breast:
8	chr2:55496021..55497900-chr2:55843389..55845266,2	K562	blood:
9	chr2:55843912..55844474-chrX:27481115..27481634,2	Hela-S3	cervix:
10	chr17:27052759..27053541-chr2:55843996..55844983,2	Hela-S3	cervix:
11	chr17:57914014..57916719-chr2:55842770..55844822,2	MCF-7	breast:
12	chr2:55459912..55461600-chr2:55842449..55844888,2	K562	blood:
13	chr2:55508376..55510742-chr2:55843787..55846796,4	K562	blood:
14	chr2:55458277..55462347-chr2:55843080..55846218,4	K562	blood:
15	chr2:55507639..55510296-chr2:55843126..55844712,2	K562	blood:
16	chr2:55276798..55279791-chr2:55841794..55843892,2	K562	blood:
17	chr2:55496021..55498315-chr2:55843389..55845953,2	K562	blood:
18	chr2:55494631..55497013-chr2:55842868..55845390,2	MCF-7	breast:
19	chr10:99051546..99052354-chr2:55843946..55844595,2	Hela-S3	cervix:
20	chr2:55273795..55276620-chr2:55843969..55846667,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272606	TF binding region
SMEK2	TF binding region
ENSG00000272606	CpG island
SMEK2	CpG island
ENSG00000062716	chromatin interactions
ENSG00000160602	chromatin interactions
ENSG00000115355	chromatin interactions
ENSG00000162997	chromatin interactions
ENSG00000160606	chromatin interactions
ENSG00000143947	chromatin interactions
ENSG00000162994	chromatin interactions
ENSG00000085760	chromatin interactions
ENSG00000115310	chromatin interactions
ENSG00000128989	chromatin interactions
ENSG00000224960	chromatin interactions
ENSG00000138035	chromatin interactions
ENSG00000163001	chromatin interactions

Extended variants
information (count: 46 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150318495	chr2:55843730-55843731	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs3828238	chr2:55843746-55843747	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs540564179	chr2:55843769-55843770	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs192576092	chr2:55843808-55843809	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs184862903	chr2:55843840-55843841	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs72923716	chr2:55843851-55843852	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570252819	chr2:55843853-55843854	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs539276397	chr2:55843874-55843875	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs782592	chr2:55843875-55843876	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	mRNA abundance
10	rs368346821	chr2:55843876-55843877	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs542466461	chr2:55843918-55843919	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs534434802	chr2:55843919-55843920	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs554222991	chr2:55843937-55843938	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs181584649	chr2:55843944-55843945	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs572535197	chr2:55843955-55843956	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs372612985	chr2:55844007-55844008	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
17	rs541559281	chr2:55844015-55844016	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
18	rs200695886	chr2:55844056-55844057	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
19	rs536849047	chr2:55844063-55844064	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs575249026	chr2:55844069-55844070	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs557070166	chr2:55844085-55844086	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs782593	chr2:55844105-55844106	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs546043025	chr2:55844123-55844124	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
24	rs113412410	chr2:55844125-55844126	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs559011039	chr2:55844144-55844145	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs531757900	chr2:55844155-55844156	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs572446356	chr2:55844178-55844179	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs541571370	chr2:55844182-55844183	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
29	rs561356522	chr2:55844183-55844184	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs200947202	chr2:55844238-55844239	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs368163761	chr2:55844243-55844244	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs371734429	chr2:55844245-55844246	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs200130552	chr2:55844247-55844248	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs375707496	chr2:55844259-55844260	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs543659562	chr2:55844263-55844264	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs369057149	chr2:55844270-55844271	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs372606907	chr2:55844274-55844275	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs373812967	chr2:55844281-55844282	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs551312234	chr2:55844286-55844287	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
40	rs375956251	chr2:55844287-55844288	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
41	rs573813045	chr2:55844305-55844306	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
42	rs199629271	chr2:55844316-55844317	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
43	rs200421664	chr2:55844336-55844337	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
44	rs61995875	chr2:55844338-55844339	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs145705257	chr2:55844346-55844347	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
46	rs552808379	chr2:55844359-55844360	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55842400-55843800	Flanking Active TSS	Duodenum Mucosa	Duodenum
2	chr2:55842400-55846200	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr2:55842400-55846200	Active TSS	NH-A	brain
4	chr2:55842400-55846400	Active TSS	HSMMtube	muscle
5	chr2:55842400-55846400	Active TSS	NHLF	lung
6	chr2:55842600-55846200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:55842600-55846200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr2:55842600-55846200	Active TSS	A549	lung
9	chr2:55842600-55846200	Active TSS	K562	blood
10	chr2:55842600-55846400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:55842600-55846400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr2:55842600-55846400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:55842600-55846400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:55842600-55846400	Active TSS	Pancreas	Pancrea
15	chr2:55842600-55846400	Active TSS	Psoas Muscle	Psoas
16	chr2:55842600-55846800	Active TSS	H1 Cell Line	embryonic stem cell
17	chr2:55842800-55843800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr2:55842800-55843800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr2:55842800-55843800	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr2:55842800-55844000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr2:55842800-55844000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:55842800-55844200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:55842800-55845400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:55842800-55846000	Active TSS	Liver	Liver
25	chr2:55842800-55846200	Active TSS	Brain Hippocampus Middle	brain
26	chr2:55842800-55846200	Active TSS	Stomach Smooth Muscle	stomach
27	chr2:55842800-55846200	Active TSS	GM12878-XiMat	blood
28	chr2:55842800-55846200	Active TSS	Hela-S3	cervix
29	chr2:55842800-55846200	Active TSS	HMEC	breast
30	chr2:55842800-55846400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:55842800-55846400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:55842800-55846400	Active TSS	Fetal Intestine Large	intestine
33	chr2:55842800-55846400	Active TSS	Fetal Kidney	kidney
34	chr2:55842800-55846400	Active TSS	HSMM	muscle
35	chr2:55842800-55846800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:55842800-55847800	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr2:55843000-55843800	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr2:55843000-55843800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:55843000-55844000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:55843000-55844000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:55843000-55844000	Active TSS	Brain Germinal Matrix	brain
42	chr2:55843000-55845200	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr2:55843000-55846200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:55843000-55846200	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr2:55843000-55846200	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr2:55843000-55846200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:55843000-55846200	Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr2:55843000-55846200	Active TSS	Muscle Satellite Cultured Cells	--
49	chr2:55843000-55846200	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr2:55843000-55846200	Active TSS	Brain Cingulate Gyrus	brain

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