Variant report

Variant	esv3404065
Chromosome Location	chr6:13709573-13714171
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:895)
CpG islands
(count:611)
Chromatin interactive
region (count:40)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:895 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:13712158-13713048	HepG2	liver:	n/a	chr6:13712676-13712692
2	ARID3A	chr6:13710549-13710787	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:13712424-13713017	K562	blood:	n/a	chr6:13712676-13712692
4	ARID3A	chr6:13711049-13711203	HepG2	liver:	n/a	n/a
5	ARID3A	chr6:13709592-13710928	K562	blood:	n/a	n/a
6	ARID3A	chr6:13709911-13710277	HepG2	liver:	n/a	n/a
7	ARID3A	chr6:13711869-13711948	HepG2	liver:	n/a	n/a
8	ATF1	chr6:13709946-13710245	K562	blood:	n/a	n/a
9	ATF2	chr6:13712162-13713177	GM12878	blood:	n/a	n/a
10	ATF2	chr6:13712283-13712816	GM12878	blood:	n/a	n/a
11	ATF2	chr6:13712194-13712654	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr6:13712234-13712753	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr6:13712200-13712336	K562	blood:	n/a	n/a
14	BACH1	chr6:13712053-13712635	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr6:13710641-13711213	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr6:13712822-13713150	GM12878	blood:	n/a	n/a
17	BATF	chr6:13712807-13713104	GM12878	blood:	n/a	n/a
18	BCLAF1	chr6:13711670-13712004	GM12878	blood:	n/a	chr6:13711812-13711825 chr6:13711810-13711823 chr6:13711801-13711809
19	BCLAF1	chr6:13712091-13712679	GM12878	blood:	n/a	chr6:13712433-13712446
20	BCLAF1	chr6:13711562-13712688	GM12878	blood:	n/a	chr6:13712033-13712046 chr6:13712038-13712047 chr6:13711812-13711825 chr6:13711810-13711823 chr6:13712035-13712048 chr6:13711801-13711809 chr6:13712433-13712446 chr6:13712036-13712049 chr6:13712039-13712052
21	BCLAF1	chr6:13712053-13712685	K562	blood:	n/a	chr6:13712433-13712446
22	BHLHE40	chr6:13711771-13712718	K562	blood:	n/a	chr6:13712430-13712446 chr6:13712033-13712049 chr6:13712296-13712312 chr6:13712027-13712043 chr6:13712039-13712055 chr6:13712036-13712052
23	BHLHE40	chr6:13710691-13711324	K562	blood:	n/a	chr6:13711105-13711121 chr6:13711102-13711118
24	BHLHE40	chr6:13712145-13712649	HepG2	liver:	n/a	chr6:13712430-13712446 chr6:13712296-13712312
25	BHLHE40	chr6:13711667-13712679	GM12878	blood:	n/a	chr6:13712430-13712446 chr6:13712033-13712049 chr6:13712296-13712312 chr6:13712027-13712043 chr6:13712039-13712055 chr6:13712036-13712052
26	BHLHE40	chr6:13712951-13713151	GM12878	blood:	n/a	n/a
27	BRCA1	chr6:13712056-13712543	GM12878	blood:	n/a	n/a
28	BRCA1	chr6:13711828-13712668	HepG2	liver:	n/a	n/a
29	BRCA1	chr6:13711762-13712860	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr6:13711975-13712750	H1-hESC	embryonic stem cell:	n/a	n/a
31	CBX3	chr6:13712182-13713153	K562	blood:	n/a	n/a
32	CCNT2	chr6:13709817-13710043	K562	blood:	n/a	n/a
33	CCNT2	chr6:13710762-13713047	K562	blood:	n/a	chr6:13711078-13711087
34	CEBPB	chr6:13712311-13712871	GM12878	blood:	n/a	n/a
35	CEBPB	chr6:13712326-13712803	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPD	chr6:13710915-13711175	HepG2	liver:	n/a	n/a
37	CEBPD	chr6:13711670-13712614	HepG2	liver:	n/a	n/a
38	CHD1	chr6:13711002-13711337	GM12878	blood:	n/a	n/a
39	CHD1	chr6:13710875-13711328	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD1	chr6:13712348-13712950	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD1	chr6:13710047-13710210	GM12878	blood:	n/a	n/a
42	CHD1	chr6:13711607-13713115	GM12878	blood:	n/a	n/a
43	CHD2	chr6:13710951-13711154	K562	blood:	n/a	n/a
44	CHD2	chr6:13710950-13711333	HepG2	liver:	n/a	n/a
45	CHD2	chr6:13711628-13712710	GM12878	blood:	n/a	n/a
46	CHD2	chr6:13711773-13712724	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr6:13711743-13712731	K562	blood:	n/a	n/a
48	CHD2	chr6:13711682-13712641	HepG2	liver:	n/a	n/a
49	CHD2	chr6:13710849-13711309	Hela-S3	cervix:	n/a	n/a
50	CHD2	chr6:13711674-13712684	Hela-S3	cervix:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:13711921-13711971	PFSK-1	brain:	n/a
2	chr6:13711921-13711971	PFSK-1	brain:	n/a
3	chr6:13712555-13712605	SAEC	small airway:	n/a
4	chr6:13711924-13711974	NHBE	bronchial:	n/a
5	chr6:13710042-13710092	HCT-116	colon:	n/a
6	chr6:13712693-13712743	MCF-7	breast:	n/a
7	chr6:13711938-13711988	HCPEpiC	choroid plexus:	n/a
8	chr6:13712693-13712743	GM12892	blood:	n/a
9	chr6:13710042-13710092	BE2_C	brain:	n/a
10	chr6:13711723-13711773	HEK293	kidney:	embryo
11	chr6:13712555-13712605	T-47D	breast:	n/a
12	chr6:13711723-13711773	MCF-7	breast:	n/a
13	chr6:13710980-13711030	AG09309	skin:	n/a
14	chr6:13712174-13712224	AG04449	skin:	fetal
15	chr6:13710980-13711030	IMR90	lung:	fetal
16	chr6:13711938-13711988	HRPEpiC	eye:	n/a
17	chr6:13712555-13712605	BE2_C	brain:	n/a
18	chr6:13711938-13711988	SK-N-SH_RA	brain:	n/a
19	chr6:13712174-13712224	AG09319	gingival:	n/a
20	chr6:13711094-13711144	T-47D	breast:	n/a
21	chr6:13712174-13712224	SK-N-SH	brain:	n/a
22	chr6:13711924-13711974	Hepatocyte	liver:	n/a
23	chr6:13712693-13712743	HPAEpiC	pulmonary alveolar:	n/a
24	chr6:13712174-13712224	PANC-1	pancreas:	n/a
25	chr6:13712555-13712605	HRCEpiC	kidney:	n/a
26	chr6:13712555-13712605	SK-N-SH_RA	brain:	n/a
27	chr6:13712174-13712224	PFSK-1	brain:	n/a
28	chr6:13712693-13712743	H1-hESC	embryonic stem cell:	embryo
29	chr6:13710042-13710092	HCF	heart:	n/a
30	chr6:13711921-13711971	HCT-116	colon:	n/a
31	chr6:13712174-13712224	HepG2	liver:	n/a
32	chr6:13711924-13711974	Hela-S3	cervix:	n/a
33	chr6:13712174-13712224	K562	blood:	n/a
34	chr6:13711094-13711144	HCT-116	colon:	n/a
35	chr6:13711938-13711988	AG09319	gingival:	n/a
36	chr6:13711924-13711974	HRCEpiC	kidney:	n/a
37	chr6:13711723-13711773	BE2_C	brain:	n/a
38	chr6:13712693-13712743	HepG2	liver:	n/a
39	chr6:13711924-13711974	H1-hESC	embryonic stem cell:	embryo
40	chr6:13712174-13712224	HCF	heart:	n/a
41	chr6:13711921-13711971	HIPEpiC	eye:	n/a
42	chr6:13712693-13712743	HRE	kidney:	n/a
43	chr6:13712555-13712605	HepG2	liver:	n/a
44	chr6:13711094-13711144	SAEC	small airway:	n/a
45	chr6:13710042-13710092	HPAEpiC	pulmonary alveolar:	n/a
46	chr6:13711921-13711971	SKMC	muscle:	n/a
47	chr6:13711921-13711971	ovcar-3	ovarian:	n/a
48	chr6:13711921-13711971	A549	lung:	n/a
49	chr6:13712693-13712743	IMR90	lung:	fetal
50	chr6:13711723-13711773	AG10803	skin:	n/a

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:5028007..5028637-chr6:13712568..13713098,2	Hela-S3	cervix:
2	chr1:65532144..65534298-chr6:13711181..13713399,2	MCF-7	breast:
3	chr6:13709898..13716469-chr6:13809605..13815390,11	K562	blood:
4	chr6:13573221..13576787-chr6:13710917..13713733,6	K562	blood:
5	chr6:13710378..13713685-chr6:13811318..13818372,10	MCF-7	breast:
6	chr6:13708783..13709718-chr6:13814193..13814871,2	K562	blood:
7	chr6:13667308..13669773-chr6:13712805..13714594,2	K562	blood:
8	chr6:13709976..13711553-chr6:13927629..13929314,2	K562	blood:
9	chr6:13617821..13621321-chr6:13710420..13713075,4	MCF-7	breast:
10	chr6:13658437..13687167-chr6:13707669..13717356,51	K562	blood:
11	chr6:13708644..13711231-chr6:13725404..13728369,2	MCF-7	breast:
12	chr6:13573088..13576408-chr6:13709684..13713261,5	MCF-7	breast:
13	chr6:13703743..13705757-chr6:13712344..13714353,2	MCF-7	breast:
14	chr6:13693992..13697221-chr6:13708052..13711450,4	MCF-7	breast:
15	chr6:13612439..13617063-chr6:13710643..13713872,7	MCF-7	breast:
16	chr6:13622436..13626191-chr6:13709343..13710896,3	MCF-7	breast:
17	chr6:13711887..13713957-chr6:13747635..13751147,3	K562	blood:
18	chr6:13272896..13275816-chr6:13711430..13713666,2	K562	blood:
19	chr20:52207726..52210399-chr6:13710282..13712059,2	MCF-7	breast:
20	chr6:13712160..13713873-chr6:13816640..13818344,2	K562	blood:
21	chr6:13709180..13711346-chr6:13748114..13750460,2	K562	blood:
22	chr6:13712294..13715235-chr6:13734842..13736345,2	K562	blood:
23	chr6:13678292..13681247-chr6:13708035..13710228,2	MCF-7	breast:
24	chr6:13707885..13710532-chr6:13710566..13713183,2	MCF-7	breast:
25	chr6:13686589..13691071-chr6:13710597..13713720,6	K562	blood:
26	chr6:13612229..13617961-chr6:13707977..13713490,13	K562	blood:
27	chr6:13710342..13712818-chr6:13812780..13815719,5	MCF-7	breast:
28	chr12:120729387..120731467-chr6:13710748..13713061,2	MCF-7	breast:
29	chr6:13712335..13712843-chr6:13813904..13814896,2	NB4	blood:
30	chr6:13613655..13618769-chr6:13709987..13714197,10	MCF-7	breast:
31	chr6:13685654..13687254-chr6:13711731..13713330,2	MCF-7	breast:
32	chr6:13677099..13683232-chr6:13708060..13717356,16	K562	blood:
33	chr6:13711847..13714774-chr6:13741208..13742857,2	K562	blood:
34	chr6:13712562..13715550-chr6:13731027..13734094,5	K562	blood:
35	chr6:13711999..13712561-chr6:13733317..13733992,2	MCF-7	breast:
36	chr6:13613792..13617654-chr6:13711804..13714048,3	K562	blood:
37	chr6:13713710..13717343-chr6:13751875..13754798,3	MCF-7	breast:
38	chr6:13614699..13617561-chr6:13709091..13711780,4	K562	blood:
39	chr6:13712256..13714398-chr6:13725384..13727195,2	MCF-7	breast:
40	chr6:13573217..13575552-chr6:13711779..13713289,2	K562	blood:

No data

Variant related genes	Relation type
RANBP9	TF binding region
RANBP9	CpG island
ENSG00000050393	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000252966	chromatin interactions
ENSG00000268059	chromatin interactions
ENSG00000225921	chromatin interactions
ENSG00000215022	chromatin interactions
ENSG00000233075	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000261071	chromatin interactions
ENSG00000010017	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000112137	chromatin interactions
ENSG00000231485	chromatin interactions
ENSG00000124523	chromatin interactions

Extended variants
information (count: 201 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116830228	chr6:13709574-13709575	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs550214933	chr6:13709617-13709618	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs570221011	chr6:13709656-13709657	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs539187643	chr6:13709697-13709698	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs552544492	chr6:13709699-13709700	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs575306342	chr6:13709702-13709703	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs566372205	chr6:13709742-13709743	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs544399522	chr6:13709766-13709767	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs536130171	chr6:13709773-13709774	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs554678015	chr6:13709781-13709782	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs541180245	chr6:13709802-13709803	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs575750618	chr6:13709827-13709828	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs544832044	chr6:13709832-13709833	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs187653883	chr6:13709859-13709860	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs137999509	chr6:13709863-13709864	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs548847262	chr6:13709867-13709868	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs540759246	chr6:13709878-13709879	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs192626846	chr6:13709884-13709885	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs114832046	chr6:13709901-13709902	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs542080354	chr6:13709909-13709910	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs561838140	chr6:13709938-13709939	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs530578389	chr6:13709961-13709962	Active TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs150503280	chr6:13710021-13710022	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs563985883	chr6:13710035-13710036	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs532840437	chr6:13710045-13710046	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs112159299	chr6:13710070-13710071	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs566426477	chr6:13710124-13710125	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs139472139	chr6:13710126-13710127	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs549615508	chr6:13710141-13710142	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs569444023	chr6:13710142-13710143	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs538587657	chr6:13710172-13710173	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs183022829	chr6:13710219-13710220	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs368682688	chr6:13710239-13710240	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs149735173	chr6:13710274-13710275	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs534253402	chr6:13710275-13710276	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs9475120	chr6:13710323-13710324	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs573931752	chr6:13710387-13710388	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs77985197	chr6:13710398-13710399	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs115960709	chr6:13710402-13710403	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs575179753	chr6:13710413-13710414	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs544127429	chr6:13710429-13710430	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs146275012	chr6:13710488-13710489	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs188113321	chr6:13710500-13710501	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs113153928	chr6:13710514-13710515	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs532973670	chr6:13710536-13710537	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs9475121	chr6:13710537-13710538	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs373607662	chr6:13710565-13710566	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs560002916	chr6:13710570-13710571	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs529028028	chr6:13710591-13710592	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs548700954	chr6:13710598-13710599	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
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
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
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:460 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13686400-13709600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:13700800-13710400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:13703800-13710800	Weak transcription	Spleen	Spleen
4	chr6:13707600-13712600	Active TSS	GM12878-XiMat	blood
5	chr6:13707800-13713000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:13708200-13709600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:13708200-13709800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr6:13708200-13709800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr6:13708200-13710000	Flanking Active TSS	Dnd41	blood
10	chr6:13708200-13710200	Enhancers	Primary B cells from peripheral blood	blood
11	chr6:13708200-13710600	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr6:13708200-13711000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:13708400-13709600	Flanking Active TSS	Osteobl	bone
14	chr6:13708400-13709800	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr6:13708400-13710800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:13708400-13710800	Flanking Active TSS	Liver	Liver
17	chr6:13708400-13710800	Flanking Active TSS	HUVEC	blood vessel
18	chr6:13708400-13711000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:13708400-13711000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr6:13708400-13711200	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr6:13708400-13713000	Active TSS	HSMMtube	muscle
22	chr6:13708400-13713200	Active TSS	NHLF	lung
23	chr6:13708600-13710200	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr6:13708600-13710600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:13708600-13711000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr6:13708600-13711000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:13708600-13711000	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr6:13708600-13711000	Active TSS	Right Atrium	heart
29	chr6:13708600-13712800	Active TSS	Esophagus	oesophagus
30	chr6:13708600-13712800	Active TSS	Stomach Smooth Muscle	stomach
31	chr6:13708600-13713000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:13708600-13713000	Active TSS	Brain Anterior Caudate	brain
33	chr6:13708600-13713000	Active TSS	Colonic Mucosa	Colon
34	chr6:13708600-13713200	Active TSS	Brain Angular Gyrus	brain
35	chr6:13708800-13709600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:13708800-13709800	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr6:13708800-13709800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr6:13708800-13710000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr6:13708800-13710200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:13708800-13710200	Active TSS	K562	blood
41	chr6:13708800-13710600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr6:13708800-13710800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:13708800-13711200	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr6:13708800-13712200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:13708800-13712400	Active TSS	Thymus	Thymus
46	chr6:13708800-13712800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:13708800-13712800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:13708800-13712800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:13708800-13712800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:13708800-13712800	Active TSS	Fetal Kidney	kidney

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