Variant report

Variant	nsv432793
Chromosome Location	chr5:103693025-104115101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1117)
CpG islands
(count:489)
Chromatin interactive
region (count:55)
LncRNA
region (count:39)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1117 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr5:103896403-103896458	K562	blood:	n/a	n/a
2	BACH1	chr5:103964650-103964973	H1-hESC	embryonic stem cell:	n/a	chr5:103964798-103964812
3	BACH1	chr5:103964656-103964967	K562	blood:	n/a	chr5:103964798-103964812
4	BATF	chr5:104087746-104087944	GM12878	blood:	n/a	chr5:104087867-104087878
5	BATF	chr5:104087774-104088008	GM12878	blood:	n/a	chr5:104087867-104087878
6	BCL3	chr5:103874277-103874603	GM12878	blood:	n/a	n/a
7	CBX3	chr5:103848519-103849550	HCT-116	colon:	n/a	n/a
8	CBX3	chr5:103930493-103930963	HCT-116	colon:	n/a	n/a
9	CBX3	chr5:103848462-103849591	HCT-116	colon:	n/a	n/a
10	CEBPB	chr5:103979059-103979385	Hela-S3	cervix:	n/a	chr5:103979192-103979204 chr5:103979237-103979250 chr5:103979238-103979249
11	CEBPB	chr5:103909719-103910040	HepG2	liver:	n/a	chr5:103909877-103909888 chr5:103909875-103909888 chr5:103909875-103909888 chr5:103909875-103909886
12	CEBPB	chr5:103887442-103887732	ECC-1	luminal epithelium:	n/a	chr5:103887660-103887673
13	CEBPB	chr5:103914260-103914410	H1-hESC	embryonic stem cell:	n/a	chr5:103914328-103914339
14	CEBPB	chr5:103982017-103982428	MCF-7	breast:	n/a	n/a
15	CEBPB	chr5:103979056-103979406	HepG2	liver:	n/a	chr5:103979192-103979204 chr5:103979237-103979250 chr5:103979238-103979249
16	CEBPB	chr5:103920992-103921039	K562	blood:	n/a	chr5:103921000-103921013 chr5:103921002-103921013
17	CEBPB	chr5:103876063-103876659	ECC-1	luminal epithelium:	n/a	chr5:103876347-103876359
18	CEBPB	chr5:104021885-104022145	A549	lung:	n/a	n/a
19	CEBPB	chr5:103829789-103830071	HepG2	liver:	n/a	chr5:103829919-103829930 chr5:103829919-103829932 chr5:103829919-103829932
20	CEBPB	chr5:103869150-103869656	MCF-7	breast:	n/a	n/a
21	CEBPB	chr5:103811730-103811930	HepG2	liver:	n/a	chr5:103811846-103811857
22	CEBPB	chr5:103869870-103869945	HepG2	liver:	n/a	chr5:103869907-103869918
23	CEBPB	chr5:103979047-103979334	MCF-7	breast:	n/a	chr5:103979192-103979204 chr5:103979237-103979250 chr5:103979238-103979249
24	CEBPB	chr5:103829806-103830005	K562	blood:	n/a	chr5:103829919-103829930 chr5:103829919-103829932 chr5:103829919-103829932
25	CEBPB	chr5:104090393-104090670	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr5:103829769-103830080	A549	lung:	n/a	chr5:103829919-103829930 chr5:103829919-103829932 chr5:103829919-103829932
27	CEBPB	chr5:103959586-103959878	HepG2	liver:	n/a	chr5:103959714-103959725
28	CEBPB	chr5:103875999-103876753	ECC-1	luminal epithelium:	n/a	chr5:103876347-103876359
29	CEBPB	chr5:103829760-103830095	IMR90	lung:	n/a	chr5:103829919-103829930 chr5:103829919-103829932 chr5:103829919-103829932
30	CEBPB	chr5:103973626-103974033	HepG2	liver:	n/a	chr5:103974009-103974018 chr5:103973699-103973710 chr5:103974007-103974020
31	CEBPB	chr5:103875921-103876697	HCT-116	colon:	n/a	chr5:103876347-103876359
32	CEBPB	chr5:103959586-103959835	A549	lung:	n/a	chr5:103959714-103959725
33	CEBPB	chr5:103979076-103979477	MCF-7	breast:	n/a	chr5:103979192-103979204 chr5:103979237-103979250 chr5:103979238-103979249
34	CEBPB	chr5:103909697-103909987	A549	lung:	n/a	chr5:103909877-103909888 chr5:103909875-103909888 chr5:103909875-103909888 chr5:103909875-103909886
35	CEBPB	chr5:103742238-103742359	H1-hESC	embryonic stem cell:	n/a	chr5:103742300-103742311
36	CEBPB	chr5:103959552-103959885	Hela-S3	cervix:	n/a	chr5:103959714-103959725
37	CEBPB	chr5:103876105-103876703	Hela-S3	cervix:	n/a	chr5:103876347-103876359
38	CEBPB	chr5:103914222-103914488	A549	lung:	n/a	chr5:103914328-103914339
39	CEBPB	chr5:103742154-103742480	IMR90	lung:	n/a	chr5:103742300-103742311
40	CEBPB	chr5:103867090-103867208	A549	lung:	n/a	n/a
41	CEBPB	chr5:104068408-104068610	HepG2	liver:	n/a	chr5:104068507-104068518
42	CEBPB	chr5:104102566-104102783	HepG2	liver:	n/a	chr5:104102656-104102667
43	CEBPB	chr5:103742206-103742448	K562	blood:	n/a	chr5:103742300-103742311
44	CEBPB	chr5:103720632-103720781	K562	blood:	n/a	chr5:103720741-103720752
45	CEBPB	chr5:103909796-103909991	K562	blood:	n/a	chr5:103909877-103909888 chr5:103909875-103909888 chr5:103909875-103909888 chr5:103909875-103909886
46	CEBPB	chr5:103848476-103849969	HCT-116	colon:	n/a	chr5:103849783-103849796 chr5:103849371-103849384
47	CEBPB	chr5:103829803-103830038	H1-hESC	embryonic stem cell:	n/a	chr5:103829919-103829930 chr5:103829919-103829932 chr5:103829919-103829932
48	CEBPB	chr5:103769684-103769759	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr5:103978093-103978388	HepG2	liver:	n/a	chr5:103978230-103978241
50	CEBPB	chr5:103978060-103978382	IMR90	lung:	n/a	chr5:103978230-103978241

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:103829253-103829303	HRPEpiC	eye:	n/a
2	chr5:103829253-103829303	HRPEpiC	eye:	n/a
3	chr5:103876192-103876242	HPAEpiC	pulmonary alveolar:	n/a
4	chr5:104090236-104090286	T-47D	breast:	n/a
5	chr5:103829253-103829303	HIPEpiC	eye:	n/a
6	chr5:103907009-103907059	NT2-D1	testis:	n/a
7	chr5:103942397-103942447	BE2_C	brain:	n/a
8	chr5:103876192-103876242	Jurkat	blood:	n/a
9	chr5:104090236-104090286	AG09309	skin:	n/a
10	chr5:103787822-103787872	HCT-116	colon:	n/a
11	chr5:103849273-103849323	AoSMC	blood vessel:	n/a
12	chr5:104090236-104090286	RPTEC	kidney:	n/a
13	chr5:103787822-103787872	K562	blood:	n/a
14	chr5:103849273-103849323	HMEC	breast:	n/a
15	chr5:103829253-103829303	HCM	heart:	n/a
16	chr5:104090236-104090286	SKMC	muscle:	n/a
17	chr5:103942397-103942447	HUVEC	blood vessel:	n/a
18	chr5:103876192-103876242	HepG2	liver:	n/a
19	chr5:103787822-103787872	NHDF-neo	bronchial:	n/a
20	chr5:103907009-103907059	Caco-2	colon:	n/a
21	chr5:103820591-103820641	A549	lung:	n/a
22	chr5:103907009-103907059	A549	lung:	n/a
23	chr5:103820591-103820641	K562	blood:	n/a
24	chr5:103787822-103787872	GM12892	blood:	n/a
25	chr5:103787822-103787872	AG10803	skin:	n/a
26	chr5:103787822-103787872	LNCaP	prostate:	n/a
27	chr5:103876192-103876242	K562	blood:	n/a
28	chr5:103849273-103849323	HCF	heart:	n/a
29	chr5:104090236-104090286	MCF-7	breast:	n/a
30	chr5:103849273-103849323	SKMC	muscle:	n/a
31	chr5:104090236-104090286	AoSMC	blood vessel:	n/a
32	chr5:103876192-103876242	SKMC	muscle:	n/a
33	chr5:103829253-103829303	GM12891	blood:	n/a
34	chr5:103942397-103942447	AG10803	skin:	n/a
35	chr5:103876192-103876242	PFSK-1	brain:	n/a
36	chr5:103849273-103849323	HPAEpiC	pulmonary alveolar:	n/a
37	chr5:103787822-103787872	SKMC	muscle:	n/a
38	chr5:103907009-103907059	HIPEpiC	eye:	n/a
39	chr5:104090236-104090286	PFSK-1	brain:	n/a
40	chr5:103820591-103820641	NT2-D1	testis:	n/a
41	chr5:103942397-103942447	SK-N-MC	brain:	n/a
42	chr5:103942397-103942447	ECC-1	luminal epithelium:	n/a
43	chr5:103876192-103876242	HNPCEpiC	eye:	n/a
44	chr5:103829253-103829303	HMEC	breast:	n/a
45	chr5:103942397-103942447	NHBE	bronchial:	n/a
46	chr5:104090236-104090286	AG04449	skin:	fetal
47	chr5:103820591-103820641	GM06990	blood:	n/a
48	chr5:103907009-103907059	ovcar-3	ovarian:	n/a
49	chr5:103907009-103907059	HL-60	blood:	n/a
50	chr5:103787822-103787872	GM19239	blood:	n/a

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:103808557..103811668-chr5:103812642..103816209,3	MCF-7	breast:
2	chr5:103747998..103750504-chr5:103755568..103757533,2	MCF-7	breast:
3	chr5:103144212..103144806-chr5:103748305..103749025,2	MCF-7	breast:
4	chr5:104086946..104088891-chr5:104090048..104092847,2	MCF-7	breast:
5	chr5:103950660..103952781-chr5:103982477..103984816,2	MCF-7	breast:
6	chr5:103720063..103721767-chr5:103728887..103730529,2	MCF-7	breast:
7	chr5:103875480..103877892-chr5:103901637..103904578,2	MCF-7	breast:
8	chr5:103909538..103911101-chr5:103914099..103915788,2	K562	blood:
9	chr5:103982040..103982621-chr5:104952113..104952873,2	MCF-7	breast:
10	chr3:75693392..75694000-chr5:103852101..103852601,2	MCF-7	breast:
11	chr5:103747998..103750504-chr5:103755568..103757533,2	MCF-7	breast:
12	chr5:103720063..103721767-chr5:103728887..103730529,2	MCF-7	breast:
13	chr5:103755525..103757594-chr5:103760680..103762734,2	K562	blood:
14	chr5:103984998..103987505-chr5:103990796..103992380,2	MCF-7	breast:
15	chr10:123096692..123097195-chr5:103919780..103920280,2	MCF-7	breast:
16	chr5:104091669..104093962-chr5:104097846..104099466,2	MCF-7	breast:
17	chr5:103909538..103911101-chr5:103914099..103915788,2	K562	blood:
18	chr5:103843512..103846064-chr5:104654970..104657716,2	K562	blood:
19	chr5:103755525..103757594-chr5:103760680..103762734,2	K562	blood:
20	chr5:102891327..102893155-chr5:103823232..103825009,2	K562	blood:
21	chr5:104091669..104093962-chr5:104097846..104099466,2	MCF-7	breast:
22	chr5:75897144..75897771-chr5:103707251..103707772,2	MCF-7	breast:
23	chr5:103876372..103877993-chr5:103878021..103880311,2	MCF-7	breast:
24	chr5:103853669..103855650-chr5:103858863..103860532,2	MCF-7	breast:
25	chr5:103984998..103987505-chr5:103990796..103992380,2	MCF-7	breast:
26	chr5:103955211..103956753-chr5:103960969..103962805,2	MCF-7	breast:
27	chr5:103897573..103899944-chr5:103901473..103904077,2	K562	blood:
28	chr5:103812785..103815361-chr5:104049597..104051659,2	K562	blood:
29	chr5:103875480..103877892-chr5:103901637..103904578,2	MCF-7	breast:
30	chr5:104086946..104088891-chr5:104090048..104092847,2	MCF-7	breast:
31	chr5:103959799..103963456-chr5:103964708..103968737,3	MCF-7	breast:
32	chr5:103853669..103855650-chr5:103858863..103860532,2	MCF-7	breast:
33	chr5:104033301..104035974-chr5:104038075..104040842,2	MCF-7	breast:
34	chr5:103987247..103989988-chr5:103992385..103995079,2	MCF-7	breast:
35	chr5:103950660..103952781-chr5:103982477..103984816,2	MCF-7	breast:
36	chr5:103985280..103987996-chr5:104035377..104038063,2	MCF-7	breast:
37	chr5:104028054..104030764-chr5:104032138..104034804,2	K562	blood:
38	chr5:103761403..103764401-chr5:103998452..104000157,2	MCF-7	breast:
39	chr5:103764530..103765315-chr5:105577184..105577701,2	MCF-7	breast:
40	chr5:103761403..103764401-chr5:103998452..104000157,2	MCF-7	breast:
41	chr5:103987247..103989988-chr5:103992385..103995079,2	MCF-7	breast:
42	chr5:104033301..104035974-chr5:104038075..104040842,2	MCF-7	breast:
43	chr5:103870028..103872324-chr5:103876211..103878199,2	MCF-7	breast:
44	chr5:103812785..103815361-chr5:104049597..104051659,2	K562	blood:
45	chr5:103985280..103987996-chr5:104035377..104038063,2	MCF-7	breast:
46	chr5:103794931..103796667-chr5:103798124..103800738,2	K562	blood:
47	chr5:104080992..104082950-chr5:104084605..104086219,2	K562	blood:
48	chr5:103955211..103956753-chr5:103960969..103962805,2	MCF-7	breast:
49	chr5:103808557..103811668-chr5:103812642..103816209,3	MCF-7	breast:
50	chr5:103794931..103796667-chr5:103798124..103800738,2	K562	blood:

(count:39 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-5	chr5:104080291-104080310	NONHSAT103088
2	lnc-NUDT12-5	chr5:104052350-104052364	NONHSAT103081
3	lnc-NUDT12-5	chr5:104052350-104052364	NONHSAT103082
4	lnc-NUDT12-5	chr5:104075198-104075336	ENSG00000251574
5	lnc-C5orf30-3	chr5:104109342-104109441	ENSG00000253776
6	lnc-NUDT12-5	chr5:104074998-104075113	ENSG00000251574
7	lnc-NUDT12-5	chr5:104098981-104099084	ENSG00000251574
8	lnc-NUDT12-5	chr5:104109434-104109524	NONHSAT103081
9	lnc-NUDT12-6	chr5:103718999-103719083	ENSG00000251574
10	lnc-NUDT12-5	chr5:104098981-104099084	ENSG00000251574
11	lnc-NUDT12-5	chr5:104074962-104075113	ENSG00000251574
12	lnc-NUDT12-5	chr5:104075198-104075336	ENSG00000251574
13	lnc-NUDT12-5	chr5:104109314-104109524	NONHSAT103082
14	lnc-C5orf30-2	chr5:104098977-104099084	XLOC_004497
15	lnc-NUDT12-4	chr5:103716610-103716740	XLOC_004946
16	lnc-NUDT12-5	chr5:104109314-104109524	NONHSAT103088
17	lnc-NUDT12-5	chr5:104082242-104082310	ENSG00000251574
18	lnc-NUDT12-5	chr5:104109434-104109523	ENSG00000251574
19	lnc-NUDT12-5	chr5:104109314-104109492	ENSG00000251574
20	lnc-NUDT12-5	chr5:103966237-103966357	ENSG00000251574
21	lnc-NUDT12-5	chr5:103966088-103966357	ENSG00000251574
22	lnc-NUDT12-5	chr5:104081064-104081147	NONHSAT103088
23	lnc-NUDT12-4	chr5:103716257-103716480	XLOC_004946
24	lnc-NUDT12-5	chr5:104079736-104079892	ENSG00000251574
25	lnc-NUDT12-5	chr5:104109314-104109361	ENSG00000251574
26	lnc-NUDT12-13	chr5:104103132-104103235	l_2988_chr5:104103131-104137422_testes
27	lnc-NUDT12-6	chr5:103819905-103820353	ENSG00000251574
28	lnc-NUDT12-5	chr5:104098932-104099084	ENSG00000251574
29	lnc-NUDT12-5	chr5:104075198-104075242	ENSG00000251574
30	lnc-NUDT12-5	chr5:104098981-104099084	ENSG00000251574
31	lnc-NUDT12-5	chr5:104109314-104109485	ENSG00000251574
32	lnc-NUDT12-5	chr5:104109314-104109397	ENSG00000251574
33	lnc-NUDT12-5	chr5:104098981-104099084	NONHSAT103081
34	lnc-NUDT12-5	chr5:104079393-104079555	ENSG00000251574
35	lnc-NUDT12-5	chr5:104098981-104099084	ENSG00000251574
36	lnc-NUDT12-5	chr5:104072462-104072616	ENSG00000251574
37	lnc-NUDT12-5	chr5:104098981-104099084	NONHSAT103082
38	lnc-NUDT12-5	chr5:104074955-104075113	ENSG00000251574
39	lnc-C5orf30-2	chr5:104079736-104079888	XLOC_004497

No data

Variant related genes	Relation type
ENSG00000253776	TF binding region
ENSG00000251574	TF binding region
ENSG00000253776	CpG island
ENSG00000251574	CpG island
ENSG00000251574	chromatin interactions
ENSG00000112874	chromatin interactions
CREB3L2	miRNA target sites

Extended variants
information (count: 5508 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:5508 , 50 per page) page: 1 2 3 4 5 6 7 ... 111

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563643708	chr5:103697005-103697006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114272221	chr5:103697009-103697010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552946640	chr5:103697029-103697030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553421065	chr5:103697034-103697035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572934683	chr5:103697043-103697044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548311190	chr5:103697094-103697095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184528375	chr5:103697101-103697102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149535276	chr5:103697102-103697103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs58599314	chr5:103697141-103697142	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs544463210	chr5:103697156-103697157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535226996	chr5:103697157-103697158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561327712	chr5:103697168-103697169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112536801	chr5:103697203-103697204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374492381	chr5:103697209-103697210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565784225	chr5:103697228-103697229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528124057	chr5:103697234-103697235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144181553	chr5:103697238-103697239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571218832	chr5:103697302-103697303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530827576	chr5:103697406-103697407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189102760	chr5:103697419-103697420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567388559	chr5:103697444-103697445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542571704	chr5:103697512-103697513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182491118	chr5:103697565-103697566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148241406	chr5:103697583-103697584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566646136	chr5:103697589-103697590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538712955	chr5:103697601-103697602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187178880	chr5:103697617-103697618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1822216	chr5:103697619-103697620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111302932	chr5:103697620-103697621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539884287	chr5:103697625-103697626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544627163	chr5:103697639-103697640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556498570	chr5:103697640-103697641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554223021	chr5:103697641-103697642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190409749	chr5:103697660-103697661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181636032	chr5:103697681-103697682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2963223	chr5:103697687-103697688	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs528213880	chr5:103697693-103697694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201545679	chr5:103697707-103697708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545073875	chr5:103697777-103697778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185920030	chr5:103697865-103697866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530506960	chr5:103697886-103697887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550633212	chr5:103697923-103697924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139569453	chr5:103697941-103697942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529917338	chr5:103697961-103697962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558859520	chr5:103697967-103697968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546789129	chr5:103698021-103698022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114311550	chr5:103698030-103698031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577014112	chr5:103698078-103698079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113641489	chr5:103698104-103698105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs386690707	chr5:103698109-103698110	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
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
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103697000-103697600	Enhancers	HSMMtube	muscle
2	chr5:103697000-103698600	Enhancers	Osteobl	bone
3	chr5:103697200-103698000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr5:103697200-103698200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:103697400-103699200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:103697600-103698000	Weak transcription	HSMMtube	muscle
7	chr5:103697800-103699800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:103698000-103698400	Enhancers	HSMMtube	muscle
9	chr5:103698600-103699200	Weak transcription	Osteobl	bone
10	chr5:103699000-103699600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:103699200-103699600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:103699200-103699600	Active TSS	Osteobl	bone
13	chr5:103699400-103699800	Active TSS	GM12878-XiMat	blood
14	chr5:103699600-103699800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:103705600-103705800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:103705800-103706200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr5:103705800-103706400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:103706200-103708000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr5:103706400-103706600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:103706600-103706800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:103706600-103708200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:103707000-103708000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:103707200-103707400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
24	chr5:103707400-103707800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr5:103707800-103708600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr5:103708000-103708600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr5:103708000-103708600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:103708000-103708800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr5:103708200-103708400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:103708200-103708600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:103708200-103708600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:103708200-103708600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr5:103708200-103708600	Enhancers	HUVEC	blood vessel
34	chr5:103708400-103708800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:103708800-103710200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:103708800-103711000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr5:103711000-103711400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr5:103712800-103715800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:103715800-103716400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:103736400-103737600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:103736600-103737400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:103742200-103742600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
43	chr5:103742400-103742600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr5:103742600-103745600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr5:103743600-103744200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:103743800-103744200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr5:103743800-103744200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr5:103743800-103744200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:103743800-103744800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr5:103744200-103744400	Enhancers	HUES64 Cell Line	embryonic stem cell

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