Variant report

Variant	esv3413325
Chromosome Location	chr5:68389021-68391569
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:68389490-68390067	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:68389503-68389964	K562	blood:	n/a	n/a
3	ATF1	chr5:68389539-68390004	K562	blood:	n/a	n/a
4	ATF2	chr5:68389428-68390083	GM12878	blood:	n/a	n/a
5	ATF2	chr5:68389426-68390065	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr5:68389430-68390105	A549	lung:	n/a	n/a
7	ATF3	chr5:68389474-68390112	A549	lung:	n/a	n/a
8	ATF3	chr5:68389539-68389990	K562	blood:	n/a	n/a
9	ATF3	chr5:68389474-68390074	K562	blood:	n/a	n/a
10	BACH1	chr5:68389555-68389754	K562	blood:	n/a	n/a
11	BACH1	chr5:68389541-68389932	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr5:68389510-68389951	GM12878	blood:	n/a	n/a
13	BCL3	chr5:68389516-68390109	A549	lung:	n/a	chr5:68390058-68390067 chr5:68390053-68390066 chr5:68390015-68390028 chr5:68390054-68390067 chr5:68389849-68389862
14	BCL3	chr5:68389509-68390089	A549	lung:	n/a	chr5:68390058-68390067 chr5:68390053-68390066 chr5:68390015-68390028 chr5:68390054-68390067 chr5:68389849-68389862
15	BCLAF1	chr5:68389380-68390395	GM12878	blood:	n/a	chr5:68390058-68390067 chr5:68390053-68390066 chr5:68390015-68390028 chr5:68390054-68390067 chr5:68389849-68389862
16	BHLHE40	chr5:68389534-68390615	K562	blood:	n/a	chr5:68390048-68390064 chr5:68389928-68389944 chr5:68390054-68390070
17	BHLHE40	chr5:68389522-68390664	GM12878	blood:	n/a	chr5:68390048-68390064 chr5:68389928-68389944 chr5:68390054-68390070
18	BHLHE40	chr5:68389499-68390622	HepG2	liver:	n/a	chr5:68390048-68390064 chr5:68389928-68389944 chr5:68390054-68390070
19	BRCA1	chr5:68389613-68390086	HepG2	liver:	n/a	n/a
20	BRCA1	chr5:68389733-68389946	GM12878	blood:	n/a	n/a
21	BRCA1	chr5:68389573-68389911	H1-hESC	embryonic stem cell:	n/a	n/a
22	BRCA1	chr5:68389499-68390047	Hela-S3	cervix:	n/a	n/a
23	CBX3	chr5:68389451-68390006	K562	blood:	n/a	n/a
24	CBX3	chr5:68389497-68390090	K562	blood:	n/a	n/a
25	CCNT2	chr5:68389560-68390446	K562	blood:	n/a	n/a
26	CEBPB	chr5:68389593-68389918	K562	blood:	n/a	n/a
27	CEBPB	chr5:68389549-68390020	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr5:68389615-68389953	HepG2	liver:	n/a	n/a
29	CEBPB	chr5:68389603-68389952	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPD	chr5:68389752-68390013	HepG2	liver:	n/a	n/a
31	CEBPD	chr5:68389685-68390119	HepG2	liver:	n/a	n/a
32	CHD1	chr5:68389442-68391214	IMR90	lung:	n/a	chr5:68389728-68389738
33	CHD1	chr5:68389851-68390047	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD1	chr5:68390265-68390577	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD1	chr5:68389522-68390841	GM12878	blood:	n/a	chr5:68389728-68389738
36	CHD2	chr5:68389516-68390074	H1-hESC	embryonic stem cell:	n/a	chr5:68389728-68389738
37	CHD2	chr5:68389469-68390191	Hela-S3	cervix:	n/a	chr5:68389728-68389738
38	CHD2	chr5:68389037-68389221	K562	blood:	n/a	n/a
39	CHD2	chr5:68389476-68390077	K562	blood:	n/a	chr5:68389728-68389738
40	CHD2	chr5:68389519-68390068	HepG2	liver:	n/a	chr5:68389728-68389738
41	CHD2	chr5:68389465-68390562	GM12878	blood:	n/a	chr5:68389728-68389738
42	CREB1	chr5:68389557-68389971	A549	lung:	n/a	chr5:68389821-68389834
43	CREB1	chr5:68389457-68390762	GM12878	blood:	n/a	chr5:68389821-68389834
44	CREB1	chr5:68389463-68390197	K562	blood:	n/a	chr5:68389821-68389834
45	CREB1	chr5:68389500-68390142	ECC-1	luminal epithelium:	n/a	chr5:68389821-68389834
46	CREB1	chr5:68389423-68390173	A549	lung:	n/a	chr5:68389821-68389834
47	CREB1	chr5:68389484-68390094	H1-hESC	embryonic stem cell:	n/a	chr5:68389821-68389834
48	CREB1	chr5:68389510-68390179	ECC-1	luminal epithelium:	n/a	chr5:68389821-68389834
49	CREB1	chr5:68389456-68390685	HepG2	liver:	n/a	chr5:68389821-68389834
50	CREB1	chr5:68389433-68390470	K562	blood:	n/a	chr5:68389821-68389834

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:68389238-68389288	HL-60	blood:	n/a
2	chr5:68389238-68389288	HL-60	blood:	n/a
3	chr5:68390333-68390383	SK-N-SH_RA	brain:	n/a
4	chr5:68390357-68390407	NT2-D1	testis:	n/a
5	chr5:68389996-68390046	AG10803	skin:	n/a
6	chr5:68389620-68389670	CMK	blood:	n/a
7	chr5:68389704-68389754	AG09309	skin:	n/a
8	chr5:68390788-68390838	HCPEpiC	choroid plexus:	n/a
9	chr5:68389849-68389899	PANC-1	pancreas:	n/a
10	chr5:68389849-68389899	AG10803	skin:	n/a
11	chr5:68389620-68389670	HL-60	blood:	n/a
12	chr5:68390788-68390838	HL-60	blood:	n/a
13	chr5:68389620-68389670	HCPEpiC	choroid plexus:	n/a
14	chr5:68389238-68389288	AG04449	skin:	fetal
15	chr5:68390333-68390383	HEK293	kidney:	embryo
16	chr5:68389678-68389728	HEEpiC	esophagus:	n/a
17	chr5:68389840-68389890	AG09309	skin:	n/a
18	chr5:68389620-68389670	GM06990	blood:	n/a
19	chr5:68389537-68389587	AoSMC	blood vessel:	n/a
20	chr5:68390357-68390407	A549	lung:	n/a
21	chr5:68389996-68390046	Jurkat	blood:	n/a
22	chr5:68390357-68390407	NHDF-neo	bronchial:	n/a
23	chr5:68389996-68390046	ovcar-3	ovarian:	n/a
24	chr5:68390788-68390838	K562	blood:	n/a
25	chr5:68390357-68390407	HMEC	breast:	n/a
26	chr5:68389704-68389754	NH-A	brain:	n/a
27	chr5:68389996-68390046	GM12891	blood:	n/a
28	chr5:68389678-68389728	MCF10A-Er-Src	breast:	n/a
29	chr5:68389996-68390046	LNCaP	prostate:	n/a
30	chr5:68389537-68389587	HRE	kidney:	n/a
31	chr5:68390357-68390407	HNPCEpiC	eye:	n/a
32	chr5:68389849-68389899	GM12891	blood:	n/a
33	chr5:68389849-68389899	BJ	skin:	n/a
34	chr5:68389852-68389902	K562	blood:	n/a
35	chr5:68389849-68389899	CMK	blood:	n/a
36	chr5:68389704-68389754	PrEC	prostate:	n/a
37	chr5:68389996-68390046	IMR90	lung:	fetal
38	chr5:68389704-68389754	HepG2	liver:	n/a
39	chr5:68389238-68389288	IMR90	lung:	fetal
40	chr5:68389852-68389902	Hepatocyte	liver:	n/a
41	chr5:68390788-68390838	HEK293	kidney:	embryo
42	chr5:68390333-68390383	HCPEpiC	choroid plexus:	n/a
43	chr5:68389537-68389587	NT2-D1	testis:	n/a
44	chr5:68389996-68390046	NT2-D1	testis:	n/a
45	chr5:68389678-68389728	HCT-116	colon:	n/a
46	chr5:68389840-68389890	GM12892	blood:	n/a
47	chr5:68389537-68389587	BE2_C	brain:	n/a
48	chr5:68389537-68389587	HCPEpiC	choroid plexus:	n/a
49	chr5:68390357-68390407	HPAEpiC	pulmonary alveolar:	n/a
50	chr5:68389852-68389902	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:68388226..68392530-chr5:68662317..68667070,8	K562	blood:
2	chr5:68337727..68340697-chr5:68388577..68391488,3	MCF-7	breast:
3	chr5:68389643..68390291-chr7:45025687..45026218,2	NB4	blood:
4	chr5:68388349..68391314-chr5:68786934..68789626,2	MCF-7	breast:
5	chr15:75248787..75249569-chr5:68389697..68390264,2	Hela-S3	cervix:
6	chr5:68389720..68391335-chr5:68512201..68513725,2	MCF-7	breast:
7	chr5:68388464..68391397-chr5:68483791..68487195,4	K562	blood:
8	chr5:68389777..68391751-chr5:68483907..68486743,2	MCF-7	breast:
9	chr5:68388860..68391967-chr5:68513712..68515652,4	K562	blood:
10	chr5:68388171..68390847-chr5:68662913..68666552,4	K562	blood:
11	chr5:68388453..68391488-chr5:68483791..68487092,6	K562	blood:
12	chr5:68387785..68391337-chr5:68461261..68464730,5	K562	blood:
13	chr5:68388388..68391466-chr5:68512032..68515267,4	MCF-7	breast:
14	chr5:68388706..68391393-chr5:68627238..68631529,6	MCF-7	breast:
15	chr14:96968195..96968730-chr5:68389846..68390449,2	Hela-S3	cervix:
16	chr1:52344412..52344919-chr5:68389599..68390184,2	NB4	blood:
17	chr5:68388570..68392149-chr5:68396982..68399420,3	MCF-7	breast:
18	chr5:68389331..68393521-chr5:68397846..68403936,9	K562	blood:
19	chr5:68387450..68391238-chr5:68664593..68668133,5	MCF-7	breast:

Variant related genes	Relation type
SLC30A5	TF binding region
SLC30A5	CpG island
ENSG00000198794	chromatin interactions
ENSG00000134057	chromatin interactions
ENSG00000145740	chromatin interactions
ENSG00000178718	chromatin interactions
ENSG00000197822	chromatin interactions
ENSG00000232956	chromatin interactions
ENSG00000260806	chromatin interactions
ENSG00000078618	chromatin interactions
ENSG00000152942	chromatin interactions
ENSG00000153044	chromatin interactions
ENSG00000090060	chromatin interactions
ENSG00000183323	chromatin interactions
ENSG00000134056	chromatin interactions
ENSG00000250237	chromatin interactions
ENSG00000215006	chromatin interactions
ENSG00000085231	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543877254	chr5:68389030-68389031	Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs555378901	chr5:68389149-68389150	Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs567231750	chr5:68389175-68389176	Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs534759479	chr5:68389189-68389190	Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs557624312	chr5:68389193-68389194	Weak transcription Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs28546615	chr5:68389239-68389240	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs548570875	chr5:68389271-68389272	Weak transcription Enhancers Active TSS Flanking Active TSS	CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs557344126	chr5:68389310-68389311	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs368903051	chr5:68389378-68389379	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs542838618	chr5:68389471-68389472	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs555185165	chr5:68389531-68389532	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs36096312	chr5:68389563-68389564	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs58575768	chr5:68389606-68389607	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs16898480	chr5:68389714-68389715	Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs565046868	chr5:68389756-68389757	Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
16	rs114287979	chr5:68389759-68389760	Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
17	rs182378260	chr5:68389784-68389785	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
18	rs566677557	chr5:68389785-68389786	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
19	rs186912253	chr5:68389792-68389793	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs530866442	chr5:68389799-68389800	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs548904622	chr5:68389817-68389818	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs559177136	chr5:68389855-68389856	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
23	rs143965380	chr5:68389872-68389873	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
24	rs528306987	chr5:68389882-68389883	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
25	rs546686943	chr5:68389902-68389903	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
26	rs547326340	chr5:68389928-68389929	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
27	rs571389202	chr5:68390007-68390008	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
28	rs538618301	chr5:68390010-68390011	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
29	rs550585278	chr5:68390019-68390020	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
30	rs337260	chr5:68390203-68390204	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs536999216	chr5:68390204-68390205	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs377352065	chr5:68390227-68390228	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs554966035	chr5:68390266-68390267	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs337259	chr5:68390284-68390285	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs534138269	chr5:68390315-68390316	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs375339220	chr5:68390319-68390320	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs558596180	chr5:68390325-68390326	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs190983637	chr5:68390340-68390341	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs183550756	chr5:68390405-68390406	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs559048933	chr5:68390412-68390413	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs188179381	chr5:68390427-68390428	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs574746815	chr5:68390433-68390434	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs193162200	chr5:68390436-68390437	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs561044575	chr5:68390499-68390500	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs528270005	chr5:68390517-68390518	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs546846147	chr5:68390573-68390574	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs184603616	chr5:68390617-68390618	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs532285857	chr5:68390656-68390657	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs563473992	chr5:68390705-68390706	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs35138235	chr5:68390706-68390707	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Lung adenocarcinoma	17086460	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Lung cancer	17086460	CNVD
Prostate cancer	16461572	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:462 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68381200-68389400	Weak transcription	HUVEC	blood vessel
2	chr5:68382400-68389800	Weak transcription	Right Atrium	heart
3	chr5:68386200-68389400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:68386400-68389400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:68386400-68389400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:68386400-68389400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:68387200-68389400	Weak transcription	Liver	Liver
8	chr5:68387200-68389600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:68387400-68389200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:68387400-68389200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:68387400-68389400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:68387400-68389400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:68387400-68389400	Weak transcription	HMEC	breast
14	chr5:68387400-68389400	Enhancers	K562	blood
15	chr5:68387400-68389400	Weak transcription	NH-A	brain
16	chr5:68387400-68389400	Weak transcription	NHEK	skin
17	chr5:68387400-68389800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:68387600-68389200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:68387600-68389400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:68387600-68389400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:68387600-68389400	Weak transcription	HSMM	muscle
22	chr5:68387600-68389800	Weak transcription	Right Ventricle	heart
23	chr5:68387800-68389400	Weak transcription	HSMMtube	muscle
24	chr5:68388000-68389400	Weak transcription	Osteobl	bone
25	chr5:68388600-68389800	Enhancers	Fetal Heart	heart
26	chr5:68388800-68389200	Enhancers	HepG2	liver
27	chr5:68388800-68389400	Enhancers	Hela-S3	cervix
28	chr5:68389000-68389400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:68389000-68389400	Enhancers	A549	lung
30	chr5:68389000-68389800	Enhancers	GM12878-XiMat	blood
31	chr5:68389200-68389400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr5:68389200-68389400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:68389200-68389400	Enhancers	Dnd41	blood
34	chr5:68389200-68389400	Flanking Active TSS	HepG2	liver
35	chr5:68389200-68389600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr5:68389200-68390200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:68389200-68390400	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr5:68389200-68390600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:68389200-68390800	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr5:68389400-68389600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:68389400-68389600	Enhancers	Primary B cells from cord blood	blood
42	chr5:68389400-68389600	Enhancers	Primary B cells from peripheral blood	blood
43	chr5:68389400-68389600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr5:68389400-68389600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr5:68389400-68389600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr5:68389400-68389600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr5:68389400-68389600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:68389400-68389600	Flanking Active TSS	Liver	Liver
49	chr5:68389400-68389600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr5:68389400-68389600	Enhancers	Fetal Thymus	thymus

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