Variant report

Variant	esv3441517
Chromosome Location	chr5:177658571-177661119
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:520)
CpG islands
(count:672)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:520 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr5:177658255-177658574	K562	blood:	n/a	n/a
2	BACH1	chr5:177659303-177660211	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr5:177660141-177660312	K562	blood:	n/a	n/a
4	BACH1	chr5:177658981-177659154	K562	blood:	n/a	n/a
5	BHLHE40	chr5:177659237-177659880	GM12878	blood:	n/a	n/a
6	BHLHE40	chr5:177658902-177660468	K562	blood:	n/a	chr5:177659901-177659917
7	BHLHE40	chr5:177659243-177660128	HepG2	liver:	n/a	chr5:177659901-177659917
8	BRCA1	chr5:177659175-177659241	HepG2	liver:	n/a	n/a
9	BRCA1	chr5:177659209-177660020	Hela-S3	cervix:	n/a	n/a
10	CBX3	chr5:177658924-177659313	K562	blood:	n/a	n/a
11	CCNT2	chr5:177658782-177659973	K562	blood:	n/a	chr5:177659893-177659902
12	CEBPB	chr5:177658130-177658612	K562	blood:	n/a	chr5:177658233-177658246
13	CEBPB	chr5:177658108-177658571	A549	lung:	n/a	chr5:177658233-177658246
14	CEBPB	chr5:177658068-177658597	HepG2	liver:	n/a	chr5:177658233-177658246
15	CEBPB	chr5:177658050-177659845	Hela-S3	cervix:	n/a	chr5:177658233-177658246
16	CEBPB	chr5:177658040-177658742	IMR90	lung:	n/a	chr5:177658233-177658246
17	CEBPB	chr5:177658065-177658752	HepG2	liver:	n/a	chr5:177658233-177658246
18	CEBPB	chr5:177659541-177659738	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPD	chr5:177659639-177660049	HepG2	liver:	n/a	n/a
20	CEBPD	chr5:177659331-177659604	HepG2	liver:	n/a	n/a
21	CHD1	chr5:177659337-177659712	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD1	chr5:177658630-177659365	GM12878	blood:	n/a	n/a
23	CHD2	chr5:177659624-177660086	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr5:177658350-177658689	GM12878	blood:	n/a	n/a
25	CHD2	chr5:177659324-177659853	HepG2	liver:	n/a	n/a
26	CHD2	chr5:177659627-177659758	K562	blood:	n/a	n/a
27	CHD2	chr5:177659275-177660074	Hela-S3	cervix:	n/a	n/a
28	CHD2	chr5:177659116-177660350	GM12878	blood:	n/a	n/a
29	CHD2	chr5:177659070-177659402	K562	blood:	n/a	n/a
30	CREB1	chr5:177659288-177659808	H1-hESC	embryonic stem cell:	n/a	n/a
31	CREB1	chr5:177658724-177660160	HepG2	liver:	n/a	n/a
32	CREB1	chr5:177659119-177659938	A549	lung:	n/a	n/a
33	CREB1	chr5:177659070-177659977	GM12878	blood:	n/a	n/a
34	CTCF	chr5:177658800-177658950	HMEC	breast:	n/a	n/a
35	CTCF	chr5:177659140-177659290	HepG2	liver:	n/a	n/a
36	CTCF	chr5:177659160-177659310	HCT-116	colon:	n/a	n/a
37	CTCF	chr5:177659260-177659410	HCM	heart:	n/a	n/a
38	CTCF	chr5:177659180-177659330	AG09319	gingival:	n/a	n/a
39	CTCF	chr5:177659240-177659390	SAEC	small airway:	n/a	n/a
40	CTCF	chr5:177659260-177659410	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr5:177659060-177659210	GM12866	blood:	n/a	n/a
42	CTCF	chr5:177659140-177659290	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr5:177659040-177659443	K562	blood:	n/a	n/a
44	CTCF	chr5:177659140-177659290	NHLF	lung:	n/a	n/a
45	CTCF	chr5:177658720-177658870	HCPEpiC	choroid plexus:	n/a	n/a
46	CTCF	chr5:177659140-177659290	NHDF-neo	bronchial:	n/a	n/a
47	CTCF	chr5:177659120-177659270	K562	blood:	n/a	n/a
48	CTCF	chr5:177659081-177659419	IMR90	lung:	n/a	n/a
49	CTCF	chr5:177659140-177659290	AG04450	lung:	n/a	n/a
50	CTCF	chr5:177659943-177660224	K562	blood:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177660351-177660401	HIPEpiC	eye:	n/a
2	chr5:177660351-177660401	HIPEpiC	eye:	n/a
3	chr5:177660305-177660355	HRPEpiC	eye:	n/a
4	chr5:177659926-177659976	GM19239	blood:	n/a
5	chr5:177660351-177660401	IMR90	lung:	fetal
6	chr5:177660509-177660559	AG09309	skin:	n/a
7	chr5:177659585-177659635	AG10803	skin:	n/a
8	chr5:177660036-177660086	H1-hESC	embryonic stem cell:	embryo
9	chr5:177660036-177660086	ovcar-3	ovarian:	n/a
10	chr5:177660305-177660355	GM06990	blood:	n/a
11	chr5:177660509-177660559	Hepatocyte	liver:	n/a
12	chr5:177659229-177659279	GM19239	blood:	n/a
13	chr5:177660509-177660559	HRCEpiC	kidney:	n/a
14	chr5:177659229-177659279	Caco-2	colon:	n/a
15	chr5:177660305-177660355	AoSMC	blood vessel:	n/a
16	chr5:177659919-177659969	MCF10A-Er-Src	breast:	n/a
17	chr5:177659926-177659976	GM06990	blood:	n/a
18	chr5:177660351-177660401	HMEC	breast:	n/a
19	chr5:177660509-177660559	AoSMC	blood vessel:	n/a
20	chr5:177659919-177659969	AoSMC	blood vessel:	n/a
21	chr5:177658991-177659041	HEEpiC	esophagus:	n/a
22	chr5:177658991-177659041	HepG2	liver:	n/a
23	chr5:177660351-177660401	U87	brain:	n/a
24	chr5:177659971-177660021	MCF-7	breast:	n/a
25	chr5:177660351-177660401	HCM	heart:	n/a
26	chr5:177659971-177660021	BE2_C	brain:	n/a
27	chr5:177659919-177659969	Hela-S3	cervix:	n/a
28	chr5:177659919-177659969	H1-hESC	embryonic stem cell:	embryo
29	chr5:177660305-177660355	NHBE	bronchial:	n/a
30	chr5:177659383-177659433	AG09319	gingival:	n/a
31	chr5:177658991-177659041	SAEC	small airway:	n/a
32	chr5:177659971-177660021	HUVEC	blood vessel:	n/a
33	chr5:177659971-177660021	PrEC	prostate:	n/a
34	chr5:177659229-177659279	HepG2	liver:	n/a
35	chr5:177660305-177660355	HepG2	liver:	n/a
36	chr5:177659585-177659635	K562	blood:	n/a
37	chr5:177660351-177660401	AG04449	skin:	fetal
38	chr5:177659926-177659976	NHDF-neo	bronchial:	n/a
39	chr5:177659926-177659976	HRCEpiC	kidney:	n/a
40	chr5:177659229-177659279	HCT-116	colon:	n/a
41	chr5:177659585-177659635	HCM	heart:	n/a
42	chr5:177659585-177659635	GM19239	blood:	n/a
43	chr5:177659585-177659635	ovcar-3	ovarian:	n/a
44	chr5:177658991-177659041	Hepatocyte	liver:	n/a
45	chr5:177658991-177659041	AG10803	skin:	n/a
46	chr5:177659585-177659635	NHDF-neo	bronchial:	n/a
47	chr5:177658991-177659041	LNCaP	prostate:	n/a
48	chr5:177658991-177659041	CMK	blood:	n/a
49	chr5:177658991-177659041	PANC-1	pancreas:	n/a
50	chr5:177659585-177659635	HEK293	kidney:	embryo

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:177019232..177020994-chr5:177656791..177659399,2	K562	blood:
2	chr5:177659189..177660088-chr5:178017540..178018315,2	K562	blood:
3	chr22:32057870..32058631-chr5:177659389..177660070,2	HCT-116	colon:
4	chr5:177659880..177662371-chr5:178030366..178033143,2	K562	blood:
5	chr5:177659087..177660769-chr5:178052015..178054177,2	K562	blood:
6	chr5:177613072..177615957-chr5:177659065..177661764,2	MCF-7	breast:

No data

Variant related genes	Relation type
PHYKPL	TF binding region
PHYKPL	CpG island
ENSG00000113240	chromatin interactions
ENSG00000244234	chromatin interactions
ENSG00000241878	chromatin interactions
ENSG00000184840	chromatin interactions
ENSG00000050767	chromatin interactions

Extended variants
information (count: 121 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559200996	chr5:177658582-177658583	Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs577471276	chr5:177658589-177658590	Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs183209408	chr5:177658595-177658596	Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs556356896	chr5:177658604-177658605	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs574168434	chr5:177658625-177658626	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs566330832	chr5:177658626-177658627	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs541504516	chr5:177658631-177658632	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs559847607	chr5:177658632-177658633	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs527267666	chr5:177658635-177658636	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs58118907	chr5:177658656-177658657	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs564359073	chr5:177658675-177658676	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs187929919	chr5:177658676-177658677	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs549912296	chr5:177658685-177658686	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs142085224	chr5:177658718-177658719	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs568282117	chr5:177658725-177658726	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs73336845	chr5:177658758-177658759	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs548693382	chr5:177658776-177658777	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs567017946	chr5:177658796-177658797	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs145740819	chr5:177658798-177658799	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs567199182	chr5:177658865-177658866	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs558692727	chr5:177658875-177658876	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs201687899	chr5:177658879-177658880	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs2973729	chr5:177658883-177658884	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs191799977	chr5:177658889-177658890	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs3749810	chr5:177658896-177658897	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs574674774	chr5:177658941-177658942	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs2973727	chr5:177658945-177658946	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs370531851	chr5:177658958-177658959	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs375451706	chr5:177658968-177658969	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs67412107	chr5:177659071-177659072	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs2913861	chr5:177659075-177659076	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs534996256	chr5:177659140-177659141	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs368662430	chr5:177659172-177659173	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs563940279	chr5:177659265-177659266	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs576257357	chr5:177659295-177659296	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs543718136	chr5:177659299-177659300	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs3749808	chr5:177659325-177659326	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs529098076	chr5:177659347-177659348	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs547617294	chr5:177659351-177659352	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs560530726	chr5:177659355-177659356	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs527801989	chr5:177659356-177659357	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs552518309	chr5:177659357-177659358	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs538001614	chr5:177659362-177659363	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs2913860	chr5:177659366-177659367	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs538274469	chr5:177659370-177659371	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs550049785	chr5:177659374-177659375	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs575569308	chr5:177659410-177659411	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs371906783	chr5:177659411-177659412	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs3749806	chr5:177659429-177659430	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs535603645	chr5:177659439-177659440	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177656400-177658600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:177656800-177658600	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr5:177657000-177658600	Genic enhancers	Placenta	Placenta
4	chr5:177657400-177658800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
5	chr5:177657400-177659200	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr5:177657400-177659200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
7	chr5:177657600-177658600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
8	chr5:177657600-177658600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
9	chr5:177657600-177658600	Enhancers	Fetal Heart	heart
10	chr5:177657600-177658600	Transcr. at gene 5' and 3'	A549	lung
11	chr5:177657600-177658600	Transcr. at gene 5' and 3'	NHEK	skin
12	chr5:177657600-177658800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:177657600-177658800	Flanking Active TSS	Hela-S3	cervix
14	chr5:177657600-177659000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr5:177657600-177659000	Flanking Active TSS	Liver	Liver
16	chr5:177657600-177659400	Transcr. at gene 5' and 3'	Dnd41	blood
17	chr5:177657800-177658800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:177657800-177658800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
19	chr5:177657800-177658800	Transcr. at gene 5' and 3'	Right Ventricle	heart
20	chr5:177657800-177658800	Flanking Active TSS	HepG2	liver
21	chr5:177657800-177658800	Flanking Active TSS	Osteobl	bone
22	chr5:177657800-177659000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:177657800-177659000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr5:177657800-177659200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
25	chr5:177657800-177659200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:177658000-177658600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:177658000-177658600	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:177658000-177658600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:177658000-177658600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
30	chr5:177658000-177658600	Genic enhancers	Aorta	Aorta
31	chr5:177658000-177658600	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
32	chr5:177658000-177658600	Transcr. at gene 5' and 3'	Fetal Lung	lung
33	chr5:177658000-177658600	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
34	chr5:177658000-177658600	Transcr. at gene 5' and 3'	Sigmoid Colon	Sigmoid Colon
35	chr5:177658000-177658600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
36	chr5:177658000-177658600	Genic enhancers	Spleen	Spleen
37	chr5:177658000-177658600	Transcr. at gene 5' and 3'	HSMM	muscle
38	chr5:177658000-177658800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:177658000-177658800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:177658000-177658800	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr5:177658000-177658800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr5:177658000-177658800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr5:177658000-177658800	Flanking Active TSS	Psoas Muscle	Psoas
44	chr5:177658000-177658800	Flanking Active TSS	HSMMtube	muscle
45	chr5:177658000-177658800	Flanking Active TSS	NHDF-Ad	bronchial
46	chr5:177658000-177659000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr5:177658000-177659000	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr5:177658000-177659000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr5:177658000-177659200	Flanking Active TSS	Fetal Brain Male	brain
50	chr5:177658000-177659200	Flanking Active TSS	HUVEC	blood vessel

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