Variant report

Variant	esv3327130
Chromosome Location	chr6:13710198-13712746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:848)
CpG islands
(count:550)
Chromatin interactive
region (count:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:848 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:13709592-13710928	K562	blood:	n/a	n/a
2	ARID3A	chr6:13711869-13711948	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:13711049-13711203	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:13712158-13713048	HepG2	liver:	n/a	chr6:13712676-13712692
5	ARID3A	chr6:13709911-13710277	HepG2	liver:	n/a	n/a
6	ARID3A	chr6:13712424-13713017	K562	blood:	n/a	chr6:13712676-13712692
7	ARID3A	chr6:13710549-13710787	HepG2	liver:	n/a	n/a
8	ATF1	chr6:13709946-13710245	K562	blood:	n/a	n/a
9	ATF2	chr6:13712234-13712753	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr6:13712194-13712654	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr6:13712283-13712816	GM12878	blood:	n/a	n/a
12	ATF2	chr6:13712162-13713177	GM12878	blood:	n/a	n/a
13	BACH1	chr6:13712200-13712336	K562	blood:	n/a	n/a
14	BACH1	chr6:13710641-13711213	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr6:13712053-13712635	H1-hESC	embryonic stem cell:	n/a	n/a
16	BCLAF1	chr6:13712091-13712679	GM12878	blood:	n/a	chr6:13712433-13712446
17	BCLAF1	chr6:13712053-13712685	K562	blood:	n/a	chr6:13712433-13712446
18	BCLAF1	chr6:13711670-13712004	GM12878	blood:	n/a	chr6:13711812-13711825 chr6:13711810-13711823 chr6:13711801-13711809
19	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
20	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
21	BHLHE40	chr6:13712145-13712649	HepG2	liver:	n/a	chr6:13712430-13712446 chr6:13712296-13712312
22	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
23	BHLHE40	chr6:13710691-13711324	K562	blood:	n/a	chr6:13711105-13711121 chr6:13711102-13711118
24	BRCA1	chr6:13711975-13712750	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr6:13711828-13712668	HepG2	liver:	n/a	n/a
26	BRCA1	chr6:13712056-13712543	GM12878	blood:	n/a	n/a
27	BRCA1	chr6:13711762-13712860	Hela-S3	cervix:	n/a	n/a
28	CBX3	chr6:13712182-13713153	K562	blood:	n/a	n/a
29	CCNT2	chr6:13710762-13713047	K562	blood:	n/a	chr6:13711078-13711087
30	CEBPB	chr6:13712326-13712803	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr6:13712311-13712871	GM12878	blood:	n/a	n/a
32	CEBPD	chr6:13710915-13711175	HepG2	liver:	n/a	n/a
33	CEBPD	chr6:13711670-13712614	HepG2	liver:	n/a	n/a
34	CHD1	chr6:13710047-13710210	GM12878	blood:	n/a	n/a
35	CHD1	chr6:13711002-13711337	GM12878	blood:	n/a	n/a
36	CHD1	chr6:13712348-13712950	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD1	chr6:13710875-13711328	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr6:13711607-13713115	GM12878	blood:	n/a	n/a
39	CHD2	chr6:13711628-13712710	GM12878	blood:	n/a	n/a
40	CHD2	chr6:13711682-13712641	HepG2	liver:	n/a	n/a
41	CHD2	chr6:13710950-13711333	HepG2	liver:	n/a	n/a
42	CHD2	chr6:13711743-13712731	K562	blood:	n/a	n/a
43	CHD2	chr6:13710951-13711154	K562	blood:	n/a	n/a
44	CHD2	chr6:13711773-13712724	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr6:13710849-13711309	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr6:13711674-13712684	Hela-S3	cervix:	n/a	n/a
47	CREB1	chr6:13710802-13711447	HepG2	liver:	n/a	n/a
48	CREB1	chr6:13712122-13712740	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr6:13711534-13712778	HepG2	liver:	n/a	n/a
50	CREB1	chr6:13711494-13712827	K562	blood:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:13711094-13711144	SK-N-SH	brain:	n/a
2	chr6:13711094-13711144	SK-N-SH	brain:	n/a
3	chr6:13712555-13712605	GM12891	blood:	n/a
4	chr6:13712174-13712224	HCT-116	colon:	n/a
5	chr6:13711094-13711144	HNPCEpiC	eye:	n/a
6	chr6:13712555-13712605	U87	brain:	n/a
7	chr6:13711924-13711974	GM12892	blood:	n/a
8	chr6:13711938-13711988	HCF	heart:	n/a
9	chr6:13711921-13711971	HCPEpiC	choroid plexus:	n/a
10	chr6:13712174-13712224	ECC-1	luminal epithelium:	n/a
11	chr6:13711924-13711974	SK-N-SH_RA	brain:	n/a
12	chr6:13710980-13711030	T-47D	breast:	n/a
13	chr6:13711094-13711144	HUVEC	blood vessel:	n/a
14	chr6:13711723-13711773	AG10803	skin:	n/a
15	chr6:13710980-13711030	ECC-1	luminal epithelium:	n/a
16	chr6:13710980-13711030	Hepatocyte	liver:	n/a
17	chr6:13712174-13712224	SK-N-SH_RA	brain:	n/a
18	chr6:13712693-13712743	LNCaP	prostate:	n/a
19	chr6:13712174-13712224	HNPCEpiC	eye:	n/a
20	chr6:13711723-13711773	U87	brain:	n/a
21	chr6:13711938-13711988	K562	blood:	n/a
22	chr6:13710980-13711030	Hela-S3	cervix:	n/a
23	chr6:13711938-13711988	BJ	skin:	n/a
24	chr6:13712174-13712224	NT2-D1	testis:	n/a
25	chr6:13712693-13712743	H1-hESC	embryonic stem cell:	embryo
26	chr6:13712555-13712605	SK-N-SH	brain:	n/a
27	chr6:13711723-13711773	AG04450	lung:	fetal
28	chr6:13711723-13711773	GM06990	blood:	n/a
29	chr6:13711723-13711773	HCM	heart:	n/a
30	chr6:13710980-13711030	HRE	kidney:	n/a
31	chr6:13712693-13712743	AoSMC	blood vessel:	n/a
32	chr6:13711723-13711773	NH-A	brain:	n/a
33	chr6:13711921-13711971	PFSK-1	brain:	n/a
34	chr6:13712693-13712743	GM12878	blood:	n/a
35	chr6:13712693-13712743	AG09319	gingival:	n/a
36	chr6:13712693-13712743	AG09309	skin:	n/a
37	chr6:13712693-13712743	Hepatocyte	liver:	n/a
38	chr6:13711938-13711988	AG09309	skin:	n/a
39	chr6:13710980-13711030	ProgFib	skin:	n/a
40	chr6:13711921-13711971	HEK293	kidney:	embryo
41	chr6:13711094-13711144	SK-N-SH_RA	brain:	n/a
42	chr6:13712555-13712605	T-47D	breast:	n/a
43	chr6:13712174-13712224	ovcar-3	ovarian:	n/a
44	chr6:13712174-13712224	H1-hESC	embryonic stem cell:	embryo
45	chr6:13711723-13711773	AG09319	gingival:	n/a
46	chr6:13712174-13712224	SAEC	small airway:	n/a
47	chr6:13712693-13712743	HL-60	blood:	n/a
48	chr6:13711938-13711988	GM06990	blood:	n/a
49	chr6:13712555-13712605	ProgFib	skin:	n/a
50	chr6:13711938-13711988	MCF-7	breast:	n/a

(count:37 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 119 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	rs568901847	chr6:13710602-13710603	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs563277309	chr6:13710635-13710636	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs139462041	chr6:13710673-13710674	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs191736829	chr6:13710705-13710706	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs571841296	chr6:13710725-13710726	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs548859082	chr6:13710729-13710730	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs79030841	chr6:13710758-13710759	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs554197041	chr6:13710790-13710791	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs567644499	chr6:13710829-13710830	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs536799589	chr6:13710834-13710835	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs146497001	chr6:13710841-13710842	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs565754322	chr6:13710855-13710856	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs148949728	chr6:13710861-13710862	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs544065719	chr6:13710882-13710883	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs184720611	chr6:13710887-13710888	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs557649241	chr6:13710901-13710902	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs577368174	chr6:13710911-13710912	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs534352346	chr6:13710915-13710916	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs540046449	chr6:13710922-13710923	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs534227201	chr6:13711037-13711038	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs369736475	chr6:13711051-13711052	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs560344695	chr6:13711071-13711072	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs373670239	chr6:13711076-13711077	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs528960951	chr6:13711079-13711080	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs542744156	chr6:13711085-13711086	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs28605487	chr6:13711089-13711090	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs562435001	chr6:13711097-13711098	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs370188749	chr6:13711122-13711123	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs547547895	chr6:13711125-13711126	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs531356232	chr6:13711148-13711149	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs373657471	chr6:13711158-13711159	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	11 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:264 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13700800-13710400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:13703800-13710800	Weak transcription	Spleen	Spleen
3	chr6:13707600-13712600	Active TSS	GM12878-XiMat	blood
4	chr6:13707800-13713000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:13708200-13710200	Enhancers	Primary B cells from peripheral blood	blood
6	chr6:13708200-13710600	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr6:13708200-13711000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:13708400-13710800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:13708400-13710800	Flanking Active TSS	Liver	Liver
10	chr6:13708400-13710800	Flanking Active TSS	HUVEC	blood vessel
11	chr6:13708400-13711000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:13708400-13711000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr6:13708400-13711200	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr6:13708400-13713000	Active TSS	HSMMtube	muscle
15	chr6:13708400-13713200	Active TSS	NHLF	lung
16	chr6:13708600-13710200	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr6:13708600-13710600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:13708600-13711000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr6:13708600-13711000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:13708600-13711000	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr6:13708600-13711000	Active TSS	Right Atrium	heart
22	chr6:13708600-13712800	Active TSS	Esophagus	oesophagus
23	chr6:13708600-13712800	Active TSS	Stomach Smooth Muscle	stomach
24	chr6:13708600-13713000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:13708600-13713000	Active TSS	Brain Anterior Caudate	brain
26	chr6:13708600-13713000	Active TSS	Colonic Mucosa	Colon
27	chr6:13708600-13713200	Active TSS	Brain Angular Gyrus	brain
28	chr6:13708800-13710200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:13708800-13710200	Active TSS	K562	blood
30	chr6:13708800-13710600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr6:13708800-13710800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:13708800-13711200	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr6:13708800-13712200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:13708800-13712400	Active TSS	Thymus	Thymus
35	chr6:13708800-13712800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:13708800-13712800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:13708800-13712800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:13708800-13712800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:13708800-13712800	Active TSS	Fetal Kidney	kidney
40	chr6:13708800-13713000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:13708800-13713000	Active TSS	Fetal Intestine Large	intestine
42	chr6:13708800-13713000	Active TSS	Fetal Stomach	stomach
43	chr6:13708800-13713200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:13708800-13713200	Active TSS	Ovary	ovary
45	chr6:13709000-13710600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr6:13709000-13710600	Active TSS	Fetal Brain Female	brain
47	chr6:13709000-13711000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr6:13709000-13711400	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr6:13709000-13712800	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr6:13709000-13713000	Active TSS	ES-I3 Cell Line	embryonic stem cell

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