Variant report

Variant	esv3387564
Chromosome Location	chr6:13710598-13713146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:854)
CpG islands
(count:549)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:854 , 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	chr6:13709592-13710928	K562	blood:	n/a	n/a
2	ARID3A	chr6:13712424-13713017	K562	blood:	n/a	chr6:13712676-13712692
3	ARID3A	chr6:13711869-13711948	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:13710549-13710787	HepG2	liver:	n/a	n/a
5	ARID3A	chr6:13712158-13713048	HepG2	liver:	n/a	chr6:13712676-13712692
6	ARID3A	chr6:13711049-13711203	HepG2	liver:	n/a	n/a
7	ATF2	chr6:13712283-13712816	GM12878	blood:	n/a	n/a
8	ATF2	chr6:13712162-13713177	GM12878	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	BACH1	chr6:13710641-13711213	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr6:13712200-13712336	K562	blood:	n/a	n/a
13	BACH1	chr6:13712053-13712635	H1-hESC	embryonic stem cell:	n/a	n/a
14	BATF	chr6:13712822-13713150	GM12878	blood:	n/a	n/a
15	BATF	chr6:13712807-13713104	GM12878	blood:	n/a	n/a
16	BCLAF1	chr6:13712053-13712685	K562	blood:	n/a	chr6:13712433-13712446
17	BCLAF1	chr6:13712091-13712679	GM12878	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	chr6:13712951-13713151	GM12878	blood:	n/a	n/a
21	BHLHE40	chr6:13710691-13711324	K562	blood:	n/a	chr6:13711105-13711121 chr6:13711102-13711118
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	chr6:13712145-13712649	HepG2	liver:	n/a	chr6:13712430-13712446 chr6:13712296-13712312
24	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
25	BRCA1	chr6:13711828-13712668	HepG2	liver:	n/a	n/a
26	BRCA1	chr6:13711762-13712860	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr6:13711975-13712750	H1-hESC	embryonic stem cell:	n/a	n/a
28	BRCA1	chr6:13712056-13712543	GM12878	blood:	n/a	n/a
29	CBX3	chr6:13712182-13713153	K562	blood:	n/a	n/a
30	CCNT2	chr6:13710762-13713047	K562	blood:	n/a	chr6:13711078-13711087
31	CEBPB	chr6:13712311-13712871	GM12878	blood:	n/a	n/a
32	CEBPB	chr6:13712326-13712803	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPD	chr6:13710915-13711175	HepG2	liver:	n/a	n/a
34	CEBPD	chr6:13711670-13712614	HepG2	liver:	n/a	n/a
35	CHD1	chr6:13711607-13713115	GM12878	blood:	n/a	n/a
36	CHD1	chr6:13711002-13711337	GM12878	blood:	n/a	n/a
37	CHD1	chr6:13710875-13711328	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr6:13712348-13712950	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr6:13711682-13712641	HepG2	liver:	n/a	n/a
40	CHD2	chr6:13711628-13712710	GM12878	blood:	n/a	n/a
41	CHD2	chr6:13711674-13712684	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr6:13710951-13711154	K562	blood:	n/a	n/a
43	CHD2	chr6:13710950-13711333	HepG2	liver:	n/a	n/a
44	CHD2	chr6:13711743-13712731	K562	blood:	n/a	n/a
45	CHD2	chr6:13710849-13711309	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr6:13711773-13712724	H1-hESC	embryonic stem cell:	n/a	n/a
47	CREB1	chr6:13711494-13712827	K562	blood:	n/a	n/a
48	CREB1	chr6:13711634-13712609	A549	lung:	n/a	n/a
49	CREB1	chr6:13711589-13712729	GM12878	blood:	n/a	n/a
50	CREB1	chr6:13712122-13712740	H1-hESC	embryonic stem cell:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:13711924-13711974	HRPEpiC	eye:	n/a
2	chr6:13711723-13711773	Caco-2	colon:	n/a
3	chr6:13711723-13711773	K562	blood:	n/a
4	chr6:13711924-13711974	PFSK-1	brain:	n/a
5	chr6:13712693-13712743	AG10803	skin:	n/a
6	chr6:13711938-13711988	AG09309	skin:	n/a
7	chr6:13712174-13712224	CMK	blood:	n/a
8	chr6:13711921-13711971	H1-hESC	embryonic stem cell:	embryo
9	chr6:13712555-13712605	GM19239	blood:	n/a
10	chr6:13711924-13711974	HUVEC	blood vessel:	n/a
11	chr6:13711723-13711773	NB4	blood:	n/a
12	chr6:13711924-13711974	HRCEpiC	kidney:	n/a
13	chr6:13711723-13711773	PFSK-1	brain:	n/a
14	chr6:13712174-13712224	SAEC	small airway:	n/a
15	chr6:13712174-13712224	HMEC	breast:	n/a
16	chr6:13711723-13711773	GM12878	blood:	n/a
17	chr6:13711723-13711773	GM06990	blood:	n/a
18	chr6:13711924-13711974	GM06990	blood:	n/a
19	chr6:13711938-13711988	GM12878	blood:	n/a
20	chr6:13711938-13711988	HNPCEpiC	eye:	n/a
21	chr6:13712555-13712605	U87	brain:	n/a
22	chr6:13712693-13712743	K562	blood:	n/a
23	chr6:13711921-13711971	IMR90	lung:	fetal
24	chr6:13711094-13711144	GM12891	blood:	n/a
25	chr6:13711094-13711144	MCF-7	breast:	n/a
26	chr6:13711094-13711144	HRE	kidney:	n/a
27	chr6:13711924-13711974	HEK293	kidney:	embryo
28	chr6:13710980-13711030	T-47D	breast:	n/a
29	chr6:13712555-13712605	NH-A	brain:	n/a
30	chr6:13712555-13712605	PrEC	prostate:	n/a
31	chr6:13710980-13711030	Jurkat	blood:	n/a
32	chr6:13710980-13711030	SK-N-SH	brain:	n/a
33	chr6:13711921-13711971	LNCaP	prostate:	n/a
34	chr6:13712693-13712743	HCPEpiC	choroid plexus:	n/a
35	chr6:13712693-13712743	AG04450	lung:	fetal
36	chr6:13712693-13712743	A549	lung:	n/a
37	chr6:13712174-13712224	GM12891	blood:	n/a
38	chr6:13712174-13712224	A549	lung:	n/a
39	chr6:13711723-13711773	HUVEC	blood vessel:	n/a
40	chr6:13710980-13711030	AG04450	lung:	fetal
41	chr6:13711723-13711773	HCPEpiC	choroid plexus:	n/a
42	chr6:13712174-13712224	MCF10A-Er-Src	breast:	n/a
43	chr6:13712693-13712743	NH-A	brain:	n/a
44	chr6:13711723-13711773	BE2_C	brain:	n/a
45	chr6:13711921-13711971	Hela-S3	cervix:	n/a
46	chr6:13710980-13711030	MCF-7	breast:	n/a
47	chr6:13711924-13711974	A549	lung:	n/a
48	chr6:13711921-13711971	AG04449	skin:	fetal
49	chr6:13711938-13711988	Jurkat	blood:	n/a
50	chr6:13711924-13711974	NHBE	bronchial:	n/a

(count:36 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 114 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	rs368120427	chr6:13711175-13711176	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
34	rs376904858	chr6:13711186-13711187	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs201064902	chr6:13711189-13711190	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs369137549	chr6:13711198-13711199	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs528028841	chr6:13711200-13711201	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs188995248	chr6:13711201-13711202	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs375534255	chr6:13711204-13711205	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs369623638	chr6:13711213-13711214	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs368357106	chr6:13711219-13711220	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs147555237	chr6:13711222-13711223	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs373449856	chr6:13711228-13711229	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs200420535	chr6:13711243-13711244	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs141963588	chr6:13711267-13711268	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs375886286	chr6:13711273-13711274	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs202075943	chr6:13711276-13711277	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs6905991	chr6:13711279-13711280	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs144473823	chr6:13711281-13711282	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs538648069	chr6:13711291-13711292	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	12 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:315 , 50 per page) page: 1 2 3 4 5 6 7

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

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