Variant report

Variant	nsv880619
Chromosome Location	chr5:53305742-53525671
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1773)
CpG islands
(count:1037)
Chromatin interactive
region (count:126)
LncRNA
region (count:2)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:1773 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:53317701-53318382	K562	blood:	n/a	n/a
2	ARID3A	chr5:53455271-53455286	K562	blood:	n/a	n/a
3	ARID3A	chr5:53309648-53309812	K562	blood:	n/a	n/a
4	ARID3A	chr5:53386517-53387082	K562	blood:	n/a	n/a
5	ARID3A	chr5:53458120-53458410	K562	blood:	n/a	n/a
6	ATF1	chr5:53458113-53458496	K562	blood:	n/a	n/a
7	ATF1	chr5:53317646-53317957	K562	blood:	n/a	n/a
8	ATF1	chr5:53376741-53377002	K562	blood:	n/a	n/a
9	ATF1	chr5:53318184-53318430	K562	blood:	n/a	n/a
10	ATF1	chr5:53386562-53386880	K562	blood:	n/a	n/a
11	ATF1	chr5:53455006-53455335	K562	blood:	n/a	n/a
12	ATF1	chr5:53520053-53520253	K562	blood:	n/a	n/a
13	ATF1	chr5:53467858-53468187	K562	blood:	n/a	n/a
14	ATF1	chr5:53309438-53309746	K562	blood:	n/a	n/a
15	ATF2	chr5:53467794-53468228	GM12878	blood:	n/a	n/a
16	ATF2	chr5:53314185-53314692	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr5:53389643-53390043	GM12878	blood:	n/a	n/a
18	ATF2	chr5:53314142-53314660	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr5:53467772-53468219	GM12878	blood:	n/a	n/a
20	ATF3	chr5:53340856-53341698	A549	lung:	n/a	n/a
21	ATF3	chr5:53309353-53309829	K562	blood:	n/a	n/a
22	ATF3	chr5:53386538-53386845	K562	blood:	n/a	n/a
23	ATF3	chr5:53467826-53468157	K562	blood:	n/a	n/a
24	ATF3	chr5:53341128-53341748	A549	lung:	n/a	n/a
25	ATF3	chr5:53317558-53317966	K562	blood:	n/a	n/a
26	BACH1	chr5:53491533-53491712	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr5:53431687-53431717	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr5:53454954-53455377	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr5:53309399-53309771	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr5:53386684-53386884	H1-hESC	embryonic stem cell:	n/a	chr5:53386743-53386757
31	BACH1	chr5:53386535-53386891	K562	blood:	n/a	chr5:53386743-53386757
32	BACH1	chr5:53459500-53459578	K562	blood:	n/a	n/a
33	BACH1	chr5:53309417-53309971	K562	blood:	n/a	n/a
34	BCL11A	chr5:53314286-53314637	H1-hESC	embryonic stem cell:	n/a	n/a
35	BCL11A	chr5:53314251-53314687	H1-hESC	embryonic stem cell:	n/a	n/a
36	BCL11A	chr5:53423702-53423876	GM12878	blood:	n/a	n/a
37	BCL3	chr5:53340574-53341722	A549	lung:	n/a	n/a
38	BCL3	chr5:53340787-53341675	A549	lung:	n/a	n/a
39	BHLHE40	chr5:53519954-53520401	K562	blood:	n/a	n/a
40	BHLHE40	chr5:53467937-53468166	K562	blood:	n/a	n/a
41	BHLHE40	chr5:53451962-53451996	GM12878	blood:	n/a	n/a
42	BHLHE40	chr5:53525137-53525347	GM12878	blood:	n/a	n/a
43	BHLHE40	chr5:53386547-53386846	K562	blood:	n/a	n/a
44	BHLHE40	chr5:53458013-53458232	K562	blood:	n/a	n/a
45	BHLHE40	chr5:53455058-53455378	K562	blood:	n/a	n/a
46	BHLHE40	chr5:53481982-53482267	K562	blood:	n/a	n/a
47	BRCA1	chr5:53388980-53389300	Hela-S3	cervix:	n/a	n/a
48	CBX3	chr5:53309491-53310013	K562	blood:	n/a	n/a
49	CBX3	chr5:53309359-53309987	HCT-116	colon:	n/a	n/a
50	CBX3	chr5:53309487-53309939	K562	blood:	n/a	n/a

(count:1037 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:53359952-53360002	CMK	blood:	n/a
2	chr5:53490839-53490889	SKMC	muscle:	n/a
3	chr5:53389853-53389903	RPTEC	kidney:	n/a
4	chr5:53385120-53385170	HIPEpiC	eye:	n/a
5	chr5:53510393-53510443	GM12892	blood:	n/a
6	chr5:53409045-53409095	RPTEC	kidney:	n/a
7	chr5:53409045-53409095	HRCEpiC	kidney:	n/a
8	chr5:53483018-53483068	HCPEpiC	choroid plexus:	n/a
9	chr5:53510393-53510443	IMR90	lung:	fetal
10	chr5:53516701-53516751	HL-60	blood:	n/a
11	chr5:53483018-53483068	MCF10A-Er-Src	breast:	n/a
12	chr5:53455496-53455546	HUVEC	blood vessel:	n/a
13	chr5:53411773-53411823	HEK293	kidney:	embryo
14	chr5:53409045-53409095	SK-N-SH_RA	brain:	n/a
15	chr5:53362714-53362764	Jurkat	blood:	n/a
16	chr5:53311937-53311987	AG04449	skin:	fetal
17	chr5:53524765-53524815	GM12891	blood:	n/a
18	chr5:53359952-53360002	SAEC	small airway:	n/a
19	chr5:53432372-53432422	PANC-1	pancreas:	n/a
20	chr5:53490839-53490889	PFSK-1	brain:	n/a
21	chr5:53345690-53345740	NT2-D1	testis:	n/a
22	chr5:53524765-53524815	AoSMC	blood vessel:	n/a
23	chr5:53432372-53432422	SK-N-SH_RA	brain:	n/a
24	chr5:53409045-53409095	Hepatocyte	liver:	n/a
25	chr5:53502584-53502634	K562	blood:	n/a
26	chr5:53510393-53510443	HMEC	breast:	n/a
27	chr5:53432372-53432422	MCF-7	breast:	n/a
28	chr5:53389853-53389903	NT2-D1	testis:	n/a
29	chr5:53311937-53311987	HEEpiC	esophagus:	n/a
30	chr5:53432372-53432422	NB4	blood:	n/a
31	chr5:53362714-53362764	GM12878	blood:	n/a
32	chr5:53502584-53502634	AG04450	lung:	fetal
33	chr5:53409045-53409095	AG09309	skin:	n/a
34	chr5:53345690-53345740	NH-A	brain:	n/a
35	chr5:53362714-53362764	HEEpiC	esophagus:	n/a
36	chr5:53311937-53311987	HL-60	blood:	n/a
37	chr5:53483018-53483068	HRE	kidney:	n/a
38	chr5:53320010-53320060	HCPEpiC	choroid plexus:	n/a
39	chr5:53345690-53345740	BE2_C	brain:	n/a
40	chr5:53483018-53483068	T-47D	breast:	n/a
41	chr5:53490839-53490889	IMR90	lung:	fetal
42	chr5:53502584-53502634	HUVEC	blood vessel:	n/a
43	chr5:53490839-53490889	GM12892	blood:	n/a
44	chr5:53311937-53311987	NHDF-neo	bronchial:	n/a
45	chr5:53409045-53409095	SK-N-MC	brain:	n/a
46	chr5:53409045-53409095	GM12892	blood:	n/a
47	chr5:53311937-53311987	ProgFib	skin:	n/a
48	chr5:53516701-53516751	NH-A	brain:	n/a
49	chr5:53490839-53490889	HPAEpiC	pulmonary alveolar:	n/a
50	chr5:53483018-53483068	SKMC	muscle:	n/a

(count:126 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr5:53317383..53319420-chr5:53606124..53608735,2	K562	blood:
2	chr5:53311550..53314051-chr5:53315981..53317505,2	K562	blood:
3	chr5:53416825..53418882-chr5:53422697..53424495,2	MCF-7	breast:
4	chr5:53525101..53527352-chr5:53533083..53535482,2	K562	blood:
5	chr5:53464463..53467165-chr5:53469867..53471977,2	K562	blood:
6	chr5:53445902..53447815-chr5:53568555..53570098,2	K562	blood:
7	chr5:53414031..53416832-chr5:53418670..53420660,2	K562	blood:
8	chr5:53500570..53503274-chr5:53505428..53508274,2	K562	blood:
9	chr5:53374766..53377420-chr5:53380280..53382407,2	K562	blood:
10	chr5:53441409..53443058-chr5:53445412..53448218,2	K562	blood:
11	chr5:53306604..53309631-chr5:53315795..53318869,3	K562	blood:
12	chr5:53407150..53408654-chr5:53411213..53413339,2	K562	blood:
13	chr5:53315365..53317777-chr5:53340345..53343334,2	K562	blood:
14	chr5:52772738..52773313-chr5:53455804..53456355,2	MCF-7	breast:
15	chr5:53414419..53416796-chr5:53420283..53421795,2	MCF-7	breast:
16	chr5:53520729..53522331-chr5:53606250..53607890,2	K562	blood:
17	chr5:53395455..53397497-chr5:53605656..53607237,2	K562	blood:
18	chr5:53311550..53314051-chr5:53315981..53317505,2	K562	blood:
19	chr5:53441409..53443058-chr5:53445412..53448218,2	K562	blood:
20	chr5:53353265..53354821-chr5:53357587..53360122,2	K562	blood:
21	chr5:53378866..53381828-chr5:53385166..53386974,2	K562	blood:
22	chr5:53373898..53375461-chr5:53377172..53379586,2	K562	blood:
23	chr5:53318073..53320029-chr5:53321875..53324645,4	K562	blood:
24	chr5:53413797..53417195-chr5:53423854..53425574,3	MCF-7	breast:
25	chr5:53375920..53378093-chr5:53380907..53382574,2	K562	blood:
26	chr5:53436485..53438347-chr5:53605113..53606791,2	K562	blood:
27	chr5:53363327..53366337-chr5:53367094..53370590,3	K562	blood:
28	chr5:53453219..53457068-chr5:53604623..53608882,5	K562	blood:
29	chr5:53445391..53446895-chr5:53610628..53613056,2	K562	blood:
30	chr5:53452025..53453618-chr5:53455962..53457973,2	K562	blood:
31	chr5:53500570..53503274-chr5:53505428..53508274,2	K562	blood:
32	chr5:53317328..53319798-chr5:53320168..53323539,4	K562	blood:
33	chr5:53432302..53435265-chr5:53439876..53442198,2	MCF-7	breast:
34	chr5:53425532..53428018-chr5:53431677..53433643,2	K562	blood:
35	chr5:53457069..53459158-chr5:53461583..53463151,2	K562	blood:
36	chr5:53508333..53510735-chr5:53512429..53514270,2	K562	blood:
37	chr5:53519436..53521953-chr5:53523241..53525817,2	K562	blood:
38	chr5:53375920..53378093-chr5:53380907..53382574,2	K562	blood:
39	chr5:53313684..53316235-chr5:53319092..53322821,4	K562	blood:
40	chr5:52773878..52774764-chr5:53524810..53525607,3	MCF-7	breast:
41	chr5:53378633..53381453-chr5:53383372..53384998,2	K562	blood:
42	chr5:53378866..53381828-chr5:53385166..53386974,2	K562	blood:
43	chr5:53360829..53362425-chr5:53363916..53365947,2	K562	blood:
44	chr5:53363327..53366337-chr5:53367094..53370590,3	K562	blood:
45	chr5:53370747..53372250-chr5:53378791..53381202,2	K562	blood:
46	chr5:53315365..53317777-chr5:53340345..53343334,2	K562	blood:
47	chr5:53391446..53393871-chr5:53395822..53398416,2	K562	blood:
48	chr5:53304361..53306407-chr5:53311707..53313280,2	MCF-7	breast:
49	chr5:53399759..53401974-chr5:53428344..53430951,2	MCF-7	breast:
50	chr5:53310230..53312789-chr5:53319399..53321683,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MOCS2-8	chr5:53307223-53307426	expReg_chr5_2018_-
2	lnc-RP11-45H22.3.1-5	chr5:53343839-53344138	NONHSAT101442

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4459	chr5:53371390-53371411	MIMAT0018981

No data

Variant related genes	Relation type
MIR4459	TF binding region
RN7SL801P	TF binding region
MIR4459	CpG island
RN7SL801P	CpG island
ENSG00000265421	chromatin interactions
ENSG00000185305	chromatin interactions

Extended variants
information (count: 8346 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:8346 , 50 per page) page: 1 2 3 4 5 6 7 ... 167

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1542167	chr5:53305742-53305743	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200858526	chr5:53305747-53305748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578084874	chr5:53305763-53305764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78564270	chr5:53305795-53305796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376900510	chr5:53305796-53305797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34877370	chr5:53305800-53305801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3055398	chr5:53305801-53305802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200158483	chr5:53305802-53305803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550316043	chr5:53305864-53305865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180949324	chr5:53305875-53305876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554199964	chr5:53305894-53305895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563973437	chr5:53305945-53305946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369212903	chr5:53306047-53306048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184588545	chr5:53306061-53306062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112186543	chr5:53306076-53306077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs60652351	chr5:53306140-53306141	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs140307651	chr5:53306150-53306151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373448143	chr5:53306151-53306152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532798432	chr5:53306174-53306175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs60492935	chr5:53306240-53306241	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs560233404	chr5:53306277-53306278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150366773	chr5:53306289-53306290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78429528	chr5:53306301-53306302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181568463	chr5:53306309-53306310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371251627	chr5:53306315-53306316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567470265	chr5:53306369-53306370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538008504	chr5:53306393-53306394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550311622	chr5:53306468-53306469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138098088	chr5:53306496-53306497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575650104	chr5:53306537-53306538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185910462	chr5:53306546-53306547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554129605	chr5:53306548-53306549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12186486	chr5:53306549-53306550	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs536958068	chr5:53306550-53306551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544944808	chr5:53306598-53306599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149118604	chr5:53306607-53306608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576246092	chr5:53306624-53306625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12189535	chr5:53306642-53306643	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs370947104	chr5:53306656-53306657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577315951	chr5:53306657-53306658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12186509	chr5:53306690-53306691	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs560102188	chr5:53306755-53306756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112527414	chr5:53306778-53306779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533489501	chr5:53306790-53306791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181822448	chr5:53306817-53306818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550633292	chr5:53306830-53306831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186510190	chr5:53306895-53306896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192422644	chr5:53306942-53306943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141632356	chr5:53306972-53306973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116436006	chr5:53307005-53307006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	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
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Obesity	20950786	CNVD

Chromatin state (count:2187 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53256800-53310000	Weak transcription	Primary T cells from cord blood	blood
2	chr5:53290600-53309600	Weak transcription	K562	blood
3	chr5:53299000-53307000	Weak transcription	Fetal Muscle Leg	muscle
4	chr5:53299200-53318000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:53302000-53306400	Enhancers	Liver	Liver
6	chr5:53303000-53306400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:53303000-53307000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:53303200-53307400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:53303400-53307000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:53303400-53307000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr5:53303400-53307200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:53303600-53305800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr5:53303600-53305800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:53303600-53305800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr5:53303600-53305800	Enhancers	Fetal Lung	lung
16	chr5:53303600-53306000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:53303600-53306000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:53303600-53306200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:53303600-53306400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:53303600-53306600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:53303600-53307200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:53303800-53306200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:53304400-53305800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:53304400-53306000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:53304400-53309000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:53304400-53309200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:53304400-53309200	Weak transcription	NHDF-Ad	bronchial
28	chr5:53304400-53310200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:53304600-53309000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:53304600-53309000	Weak transcription	HMEC	breast
31	chr5:53304800-53306000	Enhancers	A549	lung
32	chr5:53304800-53309000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:53304800-53309600	Weak transcription	NHEK	skin
34	chr5:53305000-53305800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr5:53305000-53309000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr5:53305200-53305800	Enhancers	Colon Smooth Muscle	Colon
37	chr5:53305200-53306400	Enhancers	HepG2	liver
38	chr5:53305200-53309000	Weak transcription	NHLF	lung
39	chr5:53305400-53306000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:53305400-53306000	Enhancers	Fetal Stomach	stomach
41	chr5:53305600-53306000	Enhancers	Ovary	ovary
42	chr5:53305800-53306800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr5:53305800-53309000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:53305800-53311600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr5:53306000-53309000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:53306000-53309400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr5:53306000-53311800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:53306000-53313000	Weak transcription	Fetal Stomach	stomach
49	chr5:53306000-53314600	Weak transcription	Ovary	ovary
50	chr5:53306400-53311200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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