Variant report

Variant	esv3367952
Chromosome Location	chr4:55437113-55724644
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1849)
CpG islands
(count:1405)
Chromatin interactive
region (count:104)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:8)

(count:1849 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:55454394-55455108	K562	blood:	n/a	n/a
2	ARID3A	chr4:55451642-55452190	K562	blood:	n/a	n/a
3	ARID3A	chr4:55452430-55452826	K562	blood:	n/a	n/a
4	ARID3A	chr4:55649566-55649807	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:55524997-55525057	HepG2	liver:	n/a	n/a
6	ARID3A	chr4:55437201-55438176	K562	blood:	n/a	n/a
7	ATF1	chr4:55451820-55452249	K562	blood:	n/a	n/a
8	ATF1	chr4:55437416-55438138	K562	blood:	n/a	n/a
9	ATF2	chr4:55593474-55593941	GM12878	blood:	n/a	n/a
10	ATF3	chr4:55437352-55437859	K562	blood:	n/a	n/a
11	ATF3	chr4:55451714-55452065	K562	blood:	n/a	n/a
12	ATF3	chr4:55437458-55437746	K562	blood:	n/a	n/a
13	ATF3	chr4:55718868-55719005	K562	blood:	n/a	n/a
14	BACH1	chr4:55523561-55524183	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr4:55569450-55569650	K562	blood:	n/a	chr4:55569542-55569556
16	BACH1	chr4:55524752-55525080	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr4:55438252-55438372	K562	blood:	n/a	n/a
18	BACH1	chr4:55569468-55569630	H1-hESC	embryonic stem cell:	n/a	chr4:55569542-55569556
19	BATF	chr4:55649614-55649852	GM12878	blood:	n/a	n/a
20	BCL11A	chr4:55612471-55612796	GM12878	blood:	n/a	chr4:55612737-55612746
21	BCL3	chr4:55437366-55437837	K562	blood:	n/a	n/a
22	BCLAF1	chr4:55593568-55593856	GM12878	blood:	n/a	n/a
23	BCLAF1	chr4:55554559-55554874	GM12878	blood:	n/a	n/a
24	BCLAF1	chr4:55437253-55437818	K562	blood:	n/a	n/a
25	BHLHE40	chr4:55707261-55707270	GM12878	blood:	n/a	n/a
26	BHLHE40	chr4:55437215-55437813	K562	blood:	n/a	n/a
27	BHLHE40	chr4:55452884-55453067	K562	blood:	n/a	n/a
28	BHLHE40	chr4:55650240-55650760	K562	blood:	n/a	n/a
29	BHLHE40	chr4:55481802-55481953	K562	blood:	n/a	n/a
30	BHLHE40	chr4:55567403-55567503	K562	blood:	n/a	n/a
31	BHLHE40	chr4:55554137-55554423	GM12878	blood:	n/a	n/a
32	BHLHE40	chr4:55524794-55525578	K562	blood:	n/a	chr4:55525063-55525079
33	BHLHE40	chr4:55719695-55719729	GM12878	blood:	n/a	n/a
34	BHLHE40	chr4:55575693-55575998	K562	blood:	n/a	n/a
35	BHLHE40	chr4:55451901-55452642	K562	blood:	n/a	n/a
36	BHLHE40	chr4:55454595-55455217	K562	blood:	n/a	n/a
37	BHLHE40	chr4:55521115-55521316	K562	blood:	n/a	n/a
38	BHLHE40	chr4:55599215-55599548	GM12878	blood:	n/a	n/a
39	BRCA1	chr4:55524803-55525003	H1-hESC	embryonic stem cell:	n/a	n/a
40	BRCA1	chr4:55442943-55443080	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr4:55523990-55524425	H1-hESC	embryonic stem cell:	n/a	n/a
42	CBX3	chr4:55437262-55437875	K562	blood:	n/a	n/a
43	CBX3	chr4:55524880-55525254	K562	blood:	n/a	n/a
44	CBX3	chr4:55437413-55437769	K562	blood:	n/a	n/a
45	CCNT2	chr4:55451641-55452101	K562	blood:	n/a	n/a
46	CCNT2	chr4:55437377-55437875	K562	blood:	n/a	chr4:55437587-55437607
47	CCNT2	chr4:55522957-55523093	K562	blood:	n/a	n/a
48	CCNT2	chr4:55523780-55525332	K562	blood:	n/a	chr4:55525287-55525296 chr4:55525323-55525332
49	CCNT2	chr4:55454457-55454926	K562	blood:	n/a	chr4:55454690-55454710
50	CCNT2	chr4:55650448-55650689	K562	blood:	n/a	n/a

(count:1405 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:55442371-55442421	HAEpiC	amniotic membrane:	n/a
2	chr4:55524199-55524249	T-47D	breast:	n/a
3	chr4:55442371-55442421	HAEpiC	amniotic membrane:	n/a
4	chr4:55524199-55524249	T-47D	breast:	n/a
5	chr4:55575932-55575982	H1-hESC	embryonic stem cell:	embryo
6	chr4:55523233-55523283	H1-hESC	embryonic stem cell:	embryo
7	chr4:55543682-55543732	HUVEC	blood vessel:	n/a
8	chr4:55510632-55510682	GM12892	blood:	n/a
9	chr4:55636163-55636213	H1-hESC	embryonic stem cell:	embryo
10	chr4:55523756-55523806	AoSMC	blood vessel:	n/a
11	chr4:55521379-55521429	HCM	heart:	n/a
12	chr4:55543682-55543732	HCM	heart:	n/a
13	chr4:55524333-55524383	HRCEpiC	kidney:	n/a
14	chr4:55523756-55523806	SK-N-SH_RA	brain:	n/a
15	chr4:55525106-55525156	RPTEC	kidney:	n/a
16	chr4:55499029-55499079	SK-N-SH_RA	brain:	n/a
17	chr4:55524400-55524450	AG10803	skin:	n/a
18	chr4:55510632-55510682	ECC-1	luminal epithelium:	n/a
19	chr4:55524199-55524249	HMEC	breast:	n/a
20	chr4:55592838-55592888	HIPEpiC	eye:	n/a
21	chr4:55534703-55534753	A549	lung:	n/a
22	chr4:55575932-55575982	GM19239	blood:	n/a
23	chr4:55524145-55524195	NH-A	brain:	n/a
24	chr4:55543682-55543732	MCF-7	breast:	n/a
25	chr4:55523756-55523806	HRCEpiC	kidney:	n/a
26	chr4:55527240-55527290	AG04450	lung:	fetal
27	chr4:55534703-55534753	HCF	heart:	n/a
28	chr4:55524145-55524195	HNPCEpiC	eye:	n/a
29	chr4:55575932-55575982	GM12878	blood:	n/a
30	chr4:55499384-55499434	MCF-7	breast:	n/a
31	chr4:55708795-55708845	NT2-D1	testis:	n/a
32	chr4:55650393-55650443	BE2_C	brain:	n/a
33	chr4:55524400-55524450	ECC-1	luminal epithelium:	n/a
34	chr4:55650393-55650443	Caco-2	colon:	n/a
35	chr4:55528138-55528188	MCF-7	breast:	n/a
36	chr4:55636163-55636213	AG10803	skin:	n/a
37	chr4:55650393-55650443	AG10803	skin:	n/a
38	chr4:55442371-55442421	PrEC	prostate:	n/a
39	chr4:55575932-55575982	GM12891	blood:	n/a
40	chr4:55442371-55442421	HEEpiC	esophagus:	n/a
41	chr4:55523824-55523874	HepG2	liver:	n/a
42	chr4:55527240-55527290	SKMC	muscle:	n/a
43	chr4:55442371-55442421	LNCaP	prostate:	n/a
44	chr4:55525106-55525156	SK-N-MC	brain:	n/a
45	chr4:55708795-55708845	MCF10A-Er-Src	breast:	n/a
46	chr4:55650393-55650443	LNCaP	prostate:	n/a
47	chr4:55523824-55523874	SK-N-SH_RA	brain:	n/a
48	chr4:55521379-55521429	PFSK-1	brain:	n/a
49	chr4:55708795-55708845	SKMC	muscle:	n/a
50	chr4:55523756-55523806	Caco-2	colon:	n/a

(count:104 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr4:55440360..55442966-chr4:55443376..55446145,3	K562	blood:
2	chr4:55357285..55359614-chr4:55438694..55440274,2	K562	blood:
3	chr4:55481868..55484293-chr4:55528991..55530564,2	K562	blood:
4	chr4:55455740..55458184-chr4:55518555..55520404,2	K562	blood:
5	chr4:55188829..55189372-chr4:55706928..55707723,2	MCF-7	breast:
6	chr4:55681554..55685266-chr4:55686930..55690371,3	K562	blood:
7	chr4:55436094..55437601-chr4:55449957..55451605,2	K562	blood:
8	chr4:55452869..55453638-chr4:55708509..55709111,2	MCF-7	breast:
9	chr4:55585742..55588385-chr4:55588743..55591028,2	MCF-7	breast:
10	chr4:55571105..55573069-chr4:55576330..55579168,2	K562	blood:
11	chr4:55549683..55550510-chr4:55831004..55831737,2	MCF-7	breast:
12	chr4:55707866..55710526-chr4:55713081..55715385,2	MCF-7	breast:
13	chr4:55667601..55670189-chr4:55684155..55685708,2	K562	blood:
14	chr4:55519656..55521557-chr4:55522615..55525022,3	K562	blood:
15	chr4:55613168..55615604-chr4:55620283..55622444,2	K562	blood:
16	chr4:55503201..55504980-chr4:55510390..55512353,2	K562	blood:
17	chr4:55432509..55435392-chr4:55437347..55440504,3	K562	blood:
18	chr4:55526044..55527656-chr4:55529218..55531772,2	MCF-7	breast:
19	chr4:55708286..55708872-chr4:55827341..55828280,4	MCF-7	breast:
20	chr4:55605484..55608271-chr4:55609162..55610751,2	MCF-7	breast:
21	chr4:55610926..55612759-chr4:55613214..55615197,2	MCF-7	breast:
22	chr4:55667601..55670189-chr4:55684155..55685708,2	K562	blood:
23	chr4:55719853..55721560-chr4:55728141..55729710,2	K562	blood:
24	chr4:55437669..55439693-chr4:55458499..55461313,2	K562	blood:
25	chr4:55567098..55569303-chr4:55573075..55575854,2	K562	blood:
26	chr4:55524498..55525559-chr4:55707838..55708970,3	MCF-7	breast:
27	chr4:55412343..55414208-chr4:55542565..55544089,2	K562	blood:
28	chr4:55585916..55588173-chr4:55590799..55592700,2	K562	blood:
29	chr20:52457233..52457942-chr4:55449043..55449853,2	MCF-7	breast:
30	chr4:55522620..55525465-chr4:55527232..55529578,3	K562	blood:
31	chr4:55459508..55460256-chr4:55524686..55525285,2	MCF-7	breast:
32	chr4:55549261..55550394-chr4:55706621..55707808,6	MCF-7	breast:
33	chr4:55524601..55525543-chr4:55535853..55536680,2	MCF-7	breast:
34	chr4:55445449..55448428-chr4:55450519..55452386,2	K562	blood:
35	chr4:55184800..55185406-chr4:55706810..55707325,2	MCF-7	breast:
36	chr4:55524852..55526702-chr4:55529627..55531996,2	K562	blood:
37	chr4:55551469..55552431-chr4:55706923..55707730,2	MCF-7	breast:
38	chr4:55415531..55418177-chr4:55435603..55437355,2	K562	blood:
39	chr4:55605484..55608271-chr4:55609162..55610751,2	MCF-7	breast:
40	chr4:55571105..55573069-chr4:55576330..55579168,2	K562	blood:
41	chr4:55549261..55550394-chr4:55706621..55707808,6	MCF-7	breast:
42	chr4:55524498..55525559-chr4:55707619..55708970,5	MCF-7	breast:
43	chr4:55445449..55448428-chr4:55450519..55452386,2	K562	blood:
44	chr4:55524498..55525559-chr4:55707838..55708970,3	MCF-7	breast:
45	chr4:55444047..55449090-chr4:55449528..55453666,5	K562	blood:
46	chr4:55412214..55414847-chr4:55443164..55445591,2	K562	blood:
47	chr4:55585916..55588173-chr4:55590799..55592700,2	K562	blood:
48	chr4:55524852..55526702-chr4:55529627..55531996,2	K562	blood:
49	chr4:55500450..55502781-chr4:55503910..55506040,3	K562	blood:
50	chr4:55524498..55525559-chr4:55707619..55708970,5	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDR-1	chr4:55711093-55711568	XLOC_003950
2	lnc-KDR-2	chr4:55469380-55471344	XLOC_003949
3	lnc-KDR-2	chr4:55473050-55473298	ENSG00000250456
4	lnc-KDR-2	chr4:55469378-55471344	ENSG00000250456
5	lnc-KDR-2	chr4:55473050-55473298	XLOC_003949
6	lnc-KIT-1	chr4:55711734-55711778	XLOC_003541
7	lnc-KDR-1	chr4:55702335-55702582	NONHSAT096427
8	lnc-KDR-1	chr4:55711290-55711429	NONHSAT096427
9	lnc-KDR-1	chr4:55702327-55702582	XLOC_003950

No data

(count:8 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	KIT	hsa-miR-221-3p	chr4:55605738-55605760
2	KIT	hsa-miR-186-5p	chr4:55606565-55606585
3	KIT	hsa-miR-221-3p	chr4:55606668-55606689
4	KIT	hsa-miR-221-3p	chr4:55606682-55606689
5	KIT	hsa-miR-335-5p	chr4:55605926-55605947
6	KIT	hsa-miR-222-3p	chr4:55605740-55605760
7	KIT	hsa-miR-222-3p	chr4:55606682-55606689
8	KIT	hsa-miR-222-3p	chr4:55606669-55606689

Variant related genes	Relation type
ENSG00000250456	TF binding region
ENSG00000249727	TF binding region
ENSG00000251256	TF binding region
KIT	TF binding region
ENSG00000250456	CpG island
ENSG00000249727	CpG island
ENSG00000251256	CpG island
KIT	CpG island
ENSG00000157404	chromatin interactions
RLF	miRNA target sites
LITAF	miRNA target sites

Extended variants
information (count: 10199 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:10199 , 50 per page) page: 1 2 3 4 5 6 7 ... 204

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544955764	chr4:55437135-55437136	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs374883490	chr4:55437156-55437157	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs200739207	chr4:55437157-55437158	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs539700858	chr4:55437166-55437167	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs557745909	chr4:55437176-55437177	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs572918057	chr4:55437180-55437181	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs569114259	chr4:55437184-55437185	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs35730212	chr4:55437187-55437188	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs561530073	chr4:55437189-55437190	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs75897174	chr4:55437196-55437197	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs201031947	chr4:55437199-55437200	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs141484459	chr4:55437205-55437206	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs375738854	chr4:55437319-55437320	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs540426677	chr4:55437401-55437402	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560645390	chr4:55437412-55437413	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532538615	chr4:55437478-55437479	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2703485	chr4:55437492-55437493	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562572801	chr4:55437538-55437539	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546673086	chr4:55437579-55437580	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187005509	chr4:55437596-55437597	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527555237	chr4:55437618-55437619	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs79075412	chr4:55437622-55437623	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs571244471	chr4:55437636-55437637	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs139171005	chr4:55437655-55437656	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs546516123	chr4:55437664-55437665	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs546681605	chr4:55437689-55437690	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs571267464	chr4:55437740-55437741	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs149497175	chr4:55437741-55437742	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs193194468	chr4:55437769-55437770	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs374627829	chr4:55437801-55437802	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs77928674	chr4:55437806-55437807	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs185208287	chr4:55437849-55437850	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs190132079	chr4:55437939-55437940	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs555248369	chr4:55437951-55437952	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs574994399	chr4:55438001-55438002	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs540912714	chr4:55438017-55438018	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs554118214	chr4:55438075-55438076	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs577349994	chr4:55438103-55438104	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs17084484	chr4:55438114-55438115	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs144150223	chr4:55438156-55438157	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs531619460	chr4:55438166-55438167	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs140574162	chr4:55438181-55438182	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs193115215	chr4:55438199-55438200	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs75506121	chr4:55438221-55438222	Enhancers Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529987241	chr4:55438249-55438250	Enhancers Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546848652	chr4:55438303-55438304	Enhancers Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566583867	chr4:55438360-55438361	Enhancers Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71599643	chr4:55438399-55438400	Enhancers Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532311351	chr4:55438496-55438497	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531822219	chr4:55438564-55438565	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164920	CNVD
Cancer	22183965	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	17440070	CNVD
Melanoma	18980976	CNVD
Rhabdomyosarcoma	20807811	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22543975	CNVD

Chromatin state (count:2284 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55434600-55439400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr4:55435000-55437400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:55436400-55437600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
4	chr4:55436400-55438000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
5	chr4:55436400-55438400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:55436400-55439000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
7	chr4:55436600-55437400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:55436800-55438600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr4:55437000-55437400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:55437000-55437400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:55437000-55438200	Flanking Active TSS	K562	blood
12	chr4:55437400-55437600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:55437400-55438000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:55437400-55438200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:55437400-55438200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:55437400-55438200	Enhancers	Ovary	ovary
17	chr4:55437400-55438600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
18	chr4:55437400-55438800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr4:55437400-55438800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr4:55437600-55438000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:55437600-55438600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr4:55437600-55438800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr4:55437600-55439000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr4:55437800-55438200	Enhancers	Primary hematopoietic stem cells	blood
25	chr4:55438000-55438200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
26	chr4:55438000-55438400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:55438000-55438400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:55438200-55438800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
29	chr4:55438200-55441600	Enhancers	K562	blood
30	chr4:55438400-55438800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:55438400-55439200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:55438400-55442400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:55438600-55438800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
34	chr4:55438600-55438800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
35	chr4:55439200-55439400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:55439200-55439400	Enhancers	Psoas Muscle	Psoas
37	chr4:55439400-55440000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr4:55441600-55442000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:55441600-55450600	Weak transcription	K562	blood
40	chr4:55442000-55442200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr4:55442000-55442800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr4:55442000-55442800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr4:55442000-55443000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr4:55442200-55442400	Enhancers	H9 Cell Line	embryonic stem cell
45	chr4:55442200-55442400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr4:55442200-55442600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr4:55442400-55442800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:55448400-55449200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:55449200-55452000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:55450600-55451400	Enhancers	K562	blood

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