Variant report

Variant	nsv1033620
Chromosome Location	chr6:13419730-13571788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3054)
CpG islands
(count:2624)
Chromatin interactive
region (count:203)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3054 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:13538324-13538588	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:13487615-13487775	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:13550938-13551160	K562	blood:	n/a	n/a
4	ARID3A	chr6:13517443-13517812	HepG2	liver:	n/a	n/a
5	ARID3A	chr6:13548722-13549243	HepG2	liver:	n/a	n/a
6	ARID3A	chr6:13485120-13485440	HepG2	liver:	n/a	n/a
7	ARID3A	chr6:13484142-13484766	HepG2	liver:	n/a	n/a
8	ARID3A	chr6:13474635-13474878	HepG2	liver:	n/a	n/a
9	ATF1	chr6:13466703-13466890	K562	blood:	n/a	n/a
10	ATF1	chr6:13429410-13429956	K562	blood:	n/a	n/a
11	ATF1	chr6:13432236-13432275	K562	blood:	n/a	n/a
12	ATF1	chr6:13437938-13438131	K562	blood:	n/a	n/a
13	ATF1	chr6:13454918-13455453	K562	blood:	n/a	n/a
14	ATF1	chr6:13484426-13484881	K562	blood:	n/a	n/a
15	ATF2	chr6:13427718-13429909	GM12878	blood:	n/a	n/a
16	ATF2	chr6:13422595-13423292	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr6:13431279-13432384	GM12878	blood:	n/a	n/a
18	ATF2	chr6:13555170-13555565	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr6:13453964-13454484	GM12878	blood:	n/a	n/a
20	ATF2	chr6:13454807-13455498	GM12878	blood:	n/a	n/a
21	ATF2	chr6:13454541-13455562	GM12878	blood:	n/a	n/a
22	ATF2	chr6:13526855-13527657	GM12878	blood:	n/a	n/a
23	ATF2	chr6:13453887-13454369	GM12878	blood:	n/a	n/a
24	ATF2	chr6:13426300-13426842	GM12878	blood:	n/a	n/a
25	ATF2	chr6:13427591-13429942	GM12878	blood:	n/a	n/a
26	ATF3	chr6:13429643-13429898	K562	blood:	n/a	chr6:13429774-13429784 chr6:13429777-13429785 chr6:13429777-13429784 chr6:13429773-13429788 chr6:13429775-13429786
27	ATF3	chr6:13560925-13561243	H1-hESC	embryonic stem cell:	n/a	n/a
28	ATF3	chr6:13560934-13561170	K562	blood:	n/a	n/a
29	BACH1	chr6:13486528-13486759	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr6:13535154-13535155	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr6:13486112-13486307	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr6:13422693-13423284	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr6:13487322-13487860	H1-hESC	embryonic stem cell:	n/a	n/a
34	BATF	chr6:13453955-13454302	GM12878	blood:	n/a	n/a
35	BATF	chr6:13428757-13429143	GM12878	blood:	n/a	n/a
36	BATF	chr6:13427950-13428723	GM12878	blood:	n/a	n/a
37	BATF	chr6:13464225-13464440	GM12878	blood:	n/a	chr6:13464355-13464366 chr6:13464356-13464366
38	BATF	chr6:13466547-13466871	GM12878	blood:	n/a	n/a
39	BATF	chr6:13432127-13432401	GM12878	blood:	n/a	chr6:13432274-13432284 chr6:13432273-13432284
40	BATF	chr6:13484323-13484710	GM12878	blood:	n/a	chr6:13484343-13484351 chr6:13484524-13484535
41	BATF	chr6:13454765-13455167	GM12878	blood:	n/a	n/a
42	BATF	chr6:13427973-13429104	GM12878	blood:	n/a	n/a
43	BATF	chr6:13426424-13426768	GM12878	blood:	n/a	n/a
44	BATF	chr6:13484332-13484753	GM12878	blood:	n/a	chr6:13484343-13484351 chr6:13484524-13484535
45	BCL11A	chr6:13484440-13484701	GM12878	blood:	n/a	chr6:13484618-13484627
46	BCL11A	chr6:13427929-13428828	GM12878	blood:	n/a	chr6:13428613-13428622 chr6:13428759-13428768
47	BCL11A	chr6:13454785-13455108	GM12878	blood:	n/a	n/a
48	BCL11A	chr6:13484332-13484676	GM12878	blood:	n/a	chr6:13484618-13484627
49	BCL11A	chr6:13434391-13434880	GM12878	blood:	n/a	n/a
50	BCL11A	chr6:13427957-13429097	GM12878	blood:	n/a	chr6:13428613-13428622 chr6:13428759-13428768

(count:2624 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:13489248-13489298	IMR90	lung:	fetal
2	chr6:13489248-13489298	IMR90	lung:	fetal
3	chr6:13492509-13492559	HNPCEpiC	eye:	n/a
4	chr6:13487662-13487712	HCM	heart:	n/a
5	chr6:13438879-13438929	HMEC	breast:	n/a
6	chr6:13428588-13428638	HMEC	breast:	n/a
7	chr6:13511629-13511679	HNPCEpiC	eye:	n/a
8	chr6:13487879-13487929	AG09309	skin:	n/a
9	chr6:13428588-13428638	Hepatocyte	liver:	n/a
10	chr6:13486249-13486299	BJ	skin:	n/a
11	chr6:13486415-13486465	CMK	blood:	n/a
12	chr6:13486608-13486658	AG09309	skin:	n/a
13	chr6:13486545-13486595	HL-60	blood:	n/a
14	chr6:13487879-13487929	HRE	kidney:	n/a
15	chr6:13486608-13486658	PFSK-1	brain:	n/a
16	chr6:13469700-13469750	PrEC	prostate:	n/a
17	chr6:13428522-13428572	HMEC	breast:	n/a
18	chr6:13487863-13487913	MCF-7	breast:	n/a
19	chr6:13555624-13555674	ECC-1	luminal epithelium:	n/a
20	chr6:13466329-13466379	HIPEpiC	eye:	n/a
21	chr6:13488404-13488454	K562	blood:	n/a
22	chr6:13471187-13471237	MCF-7	breast:	n/a
23	chr6:13487863-13487913	GM06990	blood:	n/a
24	chr6:13469700-13469750	NH-A	brain:	n/a
25	chr6:13511629-13511679	PrEC	prostate:	n/a
26	chr6:13489246-13489296	MCF10A-Er-Src	breast:	n/a
27	chr6:13495838-13495888	K562	blood:	n/a
28	chr6:13428588-13428638	HRCEpiC	kidney:	n/a
29	chr6:13486608-13486658	H1-hESC	embryonic stem cell:	embryo
30	chr6:13486608-13486658	MCF-7	breast:	n/a
31	chr6:13560875-13560925	Hepatocyte	liver:	n/a
32	chr6:13492509-13492559	NHBE	bronchial:	n/a
33	chr6:13555624-13555674	ProgFib	skin:	n/a
34	chr6:13487883-13487933	AG09309	skin:	n/a
35	chr6:13492509-13492559	HEK293	kidney:	embryo
36	chr6:13428657-13428707	H1-hESC	embryonic stem cell:	embryo
37	chr6:13470414-13470464	H1-hESC	embryonic stem cell:	embryo
38	chr6:13487018-13487068	ECC-1	luminal epithelium:	n/a
39	chr6:13446618-13446668	PrEC	prostate:	n/a
40	chr6:13486425-13486475	IMR90	lung:	fetal
41	chr6:13487883-13487933	Hepatocyte	liver:	n/a
42	chr6:13495838-13495888	HepG2	liver:	n/a
43	chr6:13486249-13486299	MCF10A-Er-Src	breast:	n/a
44	chr6:13483832-13483882	HMEC	breast:	n/a
45	chr6:13488404-13488454	A549	lung:	n/a
46	chr6:13487879-13487929	HCF	heart:	n/a
47	chr6:13511451-13511501	Hepatocyte	liver:	n/a
48	chr6:13487863-13487913	Hela-S3	cervix:	n/a
49	chr6:13487879-13487929	BJ	skin:	n/a
50	chr6:13512880-13512930	ProgFib	skin:	n/a

(count:203 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr6:13466729..13469720-chr6:13485556..13487664,2	MCF-7	breast:
2	chr6:13533695..13535228-chr6:13615336..13618039,2	MCF-7	breast:
3	chr6:13522682..13524760-chr6:13529345..13531013,2	MCF-7	breast:
4	chr6:13464385..13467011-chr6:13494544..13496840,2	MCF-7	breast:
5	chr6:13558689..13560628-chr6:13565264..13567231,2	K562	blood:
6	chr6:13489525..13492132-chr6:13508702..13511366,2	MCF-7	breast:
7	chr6:13491132..13493545-chr6:13494855..13497448,2	K562	blood:
8	chr6:13453145..13455587-chr6:13457422..13460283,2	K562	blood:
9	chr6:13327291..13329947-chr6:13444548..13447508,3	K562	blood:
10	chr6:13414416..13414955-chr6:13538016..13538705,2	MCF-7	breast:
11	chr6:13503277..13504938-chr6:13505521..13507595,2	K562	blood:
12	chr6:13468251..13470033-chr6:13486325..13489131,2	K562	blood:
13	chr6:13523078..13528567-chr6:13572959..13576229,4	MCF-7	breast:
14	chr6:13554502..13556301-chr6:13573550..13575524,2	K562	blood:
15	chr6:13417839..13420815-chr6:13486813..13488730,2	MCF-7	breast:
16	chr6:13543133..13546223-chr6:13547654..13551374,3	K562	blood:
17	chr6:13446993..13448620-chr6:13450498..13451999,2	K562	blood:
18	chr6:13486147..13488786-chr6:13613803..13616517,3	K562	blood:
19	chr6:13559538..13562474-chr6:13573149..13574921,2	MCF-7	breast:
20	chr6:13474954..13479608-chr6:13485470..13489356,6	MCF-7	breast:
21	chr6:13493859..13496685-chr6:13512133..13514978,2	K562	blood:
22	chr6:13486350..13490681-chr6:13504668..13507736,4	K562	blood:
23	chr6:13477336..13479814-chr6:13494111..13495894,2	MCF-7	breast:
24	chr6:13421809..13424895-chr6:13440143..13443244,3	MCF-7	breast:
25	chr6:13554572..13556594-chr6:13565636..13567750,2	K562	blood:
26	chr6:13485719..13487951-chr6:13517533..13519891,2	MCF-7	breast:
27	chr6:13509314..13512710-chr6:13515099..13518078,3	MCF-7	breast:
28	chr6:13459869..13463008-chr6:13572189..13575188,3	MCF-7	breast:
29	chr6:13406145..13408180-chr6:13453724..13455818,2	MCF-7	breast:
30	chr6:13461316..13464526-chr6:13474276..13478535,4	MCF-7	breast:
31	chr6:13446993..13448620-chr6:13450498..13451999,2	K562	blood:
32	chr6:13489525..13492132-chr6:13508702..13511366,2	MCF-7	breast:
33	chr6:13486545..13489203-chr6:13612282..13616748,6	MCF-7	breast:
34	chr6:13471062..13472931-chr6:13486374..13489089,2	MCF-7	breast:
35	chr6:13500313..13502729-chr6:13573324..13575697,3	K562	blood:
36	chr6:13336544..13337259-chr6:13535152..13535749,2	MCF-7	breast:
37	chr6:13355838..13357537-chr6:13511461..13514141,2	K562	blood:
38	chr6:13426005..13428428-chr6:13430205..13432759,2	K562	blood:
39	chr6:13474713..13477366-chr6:13526684..13528787,2	MCF-7	breast:
40	chr6:13453259..13455801-chr6:13460525..13463218,2	K562	blood:
41	chr6:13527340..13529081-chr6:13533634..13535711,2	K562	blood:
42	chr6:13453259..13455801-chr6:13460525..13463218,2	K562	blood:
43	chr6:13454561..13455464-chr6:13538054..13539004,3	MCF-7	breast:
44	chr6:13562426..13565050-chr6:13570346..13572936,3	MCF-7	breast:
45	chr6:13479967..13483779-chr6:13484008..13490030,8	MCF-7	breast:
46	chr6:13487783..13489612-chr6:13498824..13500617,2	MCF-7	breast:
47	chr6:13533766..13535568-chr6:13536974..13538905,2	K562	blood:
48	chr6:13458838..13461788-chr6:13485026..13487935,2	MCF-7	breast:
49	chr6:13426718..13428428-chr6:13429369..13431705,2	K562	blood:
50	chr6:13477336..13479814-chr6:13494111..13495894,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SIRT5-2	chr6:13547936-13548245	NONHSAT107809
2	lnc-SIRT5-3	chr6:13437936-13438069	l_3117_chr6:13436803-13438069_testes
3	lnc-AL583828.1-1	chr6:13469502-13470862	NONHSAT107806
4	lnc-SIRT5-3	chr6:13436804-13437109	l_3117_chr6:13436803-13438069_testes
5	lnc-AL583828.1-1	chr6:13472213-13472295	NONHSAT107806

No data

Variant related genes	Relation type
GFOD1-AS1	TF binding region
SIRT5	TF binding region
ENSG00000187461	TF binding region
RPS4XP7	TF binding region
RN7SKP204	TF binding region
GFOD1	TF binding region
GFOD1-AS1	CpG island
SIRT5	CpG island
ENSG00000187461	CpG island
RPS4XP7	CpG island
RN7SKP204	CpG island
GFOD1	CpG island
ENSG00000237786	chromatin interactions
ENSG00000145990	chromatin interactions
ENSG00000215022	chromatin interactions
ENSG00000261071	chromatin interactions
ENSG00000202351	chromatin interactions
ENSG00000124523	chromatin interactions
ENSG00000145979	chromatin interactions
ENSG00000218265	chromatin interactions
ENSG00000187461	chromatin interactions
ENSG00000225921	chromatin interactions

Extended variants
information (count: 6173 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:6173 , 50 per page) page: 1 2 3 4 5 6 7 ... 124

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9474154	chr6:13419730-13419731	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532168580	chr6:13419731-13419732	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs116102829	chr6:13419793-13419794	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs548179614	chr6:13419840-13419841	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs565590470	chr6:13419865-13419866	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs184423419	chr6:13419897-13419898	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs547840767	chr6:13419903-13419904	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs9474155	chr6:13419906-13419907	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs78494325	chr6:13419925-13419926	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs567576099	chr6:13419927-13419928	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs557002307	chr6:13419966-13419967	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs570996982	chr6:13419972-13419973	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs141298831	chr6:13419973-13419974	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs147247779	chr6:13419985-13419986	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs573544365	chr6:13419991-13419992	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs376970023	chr6:13420081-13420082	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs138998701	chr6:13420122-13420123	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs6458811	chr6:13420145-13420146	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs564603500	chr6:13420147-13420148	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs530350860	chr6:13420166-13420167	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs576632338	chr6:13420170-13420171	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs545551725	chr6:13420173-13420174	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs78860605	chr6:13420174-13420175	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs528338860	chr6:13420179-13420180	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs6910652	chr6:13420207-13420208	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs73366931	chr6:13420233-13420234	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs73366933	chr6:13420298-13420299	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs534645338	chr6:13420317-13420318	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs550449162	chr6:13420338-13420339	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs570514140	chr6:13420355-13420356	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs150095374	chr6:13420360-13420361	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs16874132	chr6:13420407-13420408	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs547189349	chr6:13420408-13420409	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs73366936	chr6:13420421-13420422	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs73366937	chr6:13420442-13420443	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs78142676	chr6:13420446-13420447	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs6458812	chr6:13420487-13420488	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs73366941	chr6:13420558-13420559	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs114944074	chr6:13420579-13420580	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs73725822	chr6:13420586-13420587	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs562404569	chr6:13420589-13420590	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs187724562	chr6:13420623-13420624	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs559147724	chr6:13420631-13420632	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs576092703	chr6:13420640-13420641	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs143132756	chr6:13420665-13420666	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs541797643	chr6:13420670-13420671	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs147477490	chr6:13420682-13420683	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs16874136	chr6:13420685-13420686	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs545337754	chr6:13420721-13420722	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs550517656	chr6:13420735-13420736	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	16790693	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD

Chromatin state (count:4490 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13405000-13421800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:13408600-13422600	Weak transcription	HSMM	muscle
3	chr6:13408800-13420200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:13408800-13423000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:13411400-13421800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:13411600-13424200	Enhancers	Right Ventricle	heart
7	chr6:13413600-13419800	Weak transcription	Esophagus	oesophagus
8	chr6:13414000-13420000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:13414000-13421400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:13414000-13421800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:13414000-13421800	Weak transcription	Brain Germinal Matrix	brain
12	chr6:13414000-13422000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:13414600-13422000	Weak transcription	NHLF	lung
14	chr6:13414800-13420200	Weak transcription	HSMMtube	muscle
15	chr6:13415000-13420000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:13415000-13420400	Weak transcription	Colon Smooth Muscle	Colon
17	chr6:13415200-13420200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr6:13415400-13422600	Weak transcription	Gastric	stomach
19	chr6:13417200-13420400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:13417200-13424200	Enhancers	Brain Angular Gyrus	brain
21	chr6:13417600-13422000	Enhancers	Brain Hippocampus Middle	brain
22	chr6:13417600-13424000	Enhancers	Brain Cingulate Gyrus	brain
23	chr6:13417800-13420400	Enhancers	Pancreas	Pancrea
24	chr6:13417800-13420800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr6:13417800-13424000	Enhancers	Adipose Nuclei	Adipose
26	chr6:13417800-13424200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:13417800-13424200	Enhancers	Left Ventricle	heart
28	chr6:13417800-13424600	Enhancers	Right Atrium	heart
29	chr6:13417800-13424800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr6:13417800-13427000	Enhancers	Psoas Muscle	Psoas
31	chr6:13418200-13420600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:13418200-13421400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr6:13418200-13421600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:13418200-13421800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:13418400-13420200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr6:13418400-13421000	Enhancers	Liver	Liver
37	chr6:13418400-13421400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr6:13418400-13421800	Weak transcription	Fetal Kidney	kidney
39	chr6:13418600-13419800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:13418600-13420000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr6:13418600-13420400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr6:13418800-13420000	Enhancers	Fetal Brain Male	brain
43	chr6:13418800-13420800	Enhancers	Spleen	Spleen
44	chr6:13418800-13421800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:13418800-13422600	Weak transcription	HepG2	liver
46	chr6:13418800-13422600	Enhancers	HUVEC	blood vessel
47	chr6:13418800-13422800	Enhancers	Fetal Heart	heart
48	chr6:13419000-13419800	Enhancers	Aorta	Aorta
49	chr6:13419000-13420000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr6:13419000-13420000	Weak transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links