Variant report

Variant	esv3409241
Chromosome Location	chr6:1608853-1616151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:596)
CpG islands
(count:1281)
Chromatin interactive
region (count:50)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:596 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr6:1615087-1615984	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr6:1610104-1610166	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr6:1614087-1614865	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr6:1615036-1615301	GM12878	blood:	n/a	n/a
5	BRCA1	chr6:1611004-1611154	Hela-S3	cervix:	n/a	n/a
6	BRCA1	chr6:1614115-1614575	Hela-S3	cervix:	n/a	n/a
7	BRCA1	chr6:1609984-1610210	Hela-S3	cervix:	n/a	n/a
8	BRCA1	chr6:1614129-1614341	H1-hESC	embryonic stem cell:	n/a	n/a
9	CCNT2	chr6:1612051-1612251	K562	blood:	n/a	n/a
10	CEBPB	chr6:1609988-1610319	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr6:1612221-1612392	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr6:1613979-1614222	Hela-S3	cervix:	n/a	n/a
13	CHD1	chr6:1615305-1615711	H1-hESC	embryonic stem cell:	n/a	chr6:1615477-1615487
14	CHD2	chr6:1611590-1611790	Hela-S3	cervix:	n/a	n/a
15	CHD2	chr6:1610670-1611178	Hela-S3	cervix:	n/a	n/a
16	CHD2	chr6:1609365-1610382	Hela-S3	cervix:	n/a	n/a
17	CHD2	chr6:1614077-1614456	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr6:1613986-1614644	Hela-S3	cervix:	n/a	n/a
19	CHD2	chr6:1612215-1612260	HepG2	liver:	n/a	n/a
20	CHD2	chr6:1612123-1612307	Hela-S3	cervix:	n/a	n/a
21	CREB1	chr6:1609942-1610297	A549	lung:	n/a	n/a
22	CREB1	chr6:1611688-1611937	A549	lung:	n/a	n/a
23	CTBP2	chr6:1613988-1616006	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTBP2	chr6:1610771-1611766	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTBP2	chr6:1608542-1609793	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr6:1610020-1610089	Spleen_OC	spleen:	n/a	n/a
27	CTCF	chr6:1609540-1609690	Caco-2	colon:	n/a	n/a
28	CTCF	chr6:1611689-1611828	Pancreas_OC	pancreas:	n/a	n/a
29	CTCF	chr6:1611678-1611820	GM12891	blood:	n/a	n/a
30	CTCF	chr6:1611700-1611850	HCM	heart:	n/a	n/a
31	CTCF	chr6:1611674-1611816	A549	lung:	n/a	n/a
32	CTCF	chr6:1611620-1611770	HRPEpiC	eye:	n/a	n/a
33	CTCF	chr6:1611660-1611810	SAEC	small airway:	n/a	n/a
34	CTCF	chr6:1611640-1611790	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr6:1611660-1611810	WERI-Rb-1	eye:	n/a	n/a
36	CTCF	chr6:1611620-1611770	HFF-Myc	foreskin:	n/a	n/a
37	CTCF	chr6:1611640-1611790	GM12869	blood:	n/a	n/a
38	CTCF	chr6:1614420-1614570	AG04449	skin:	n/a	n/a
39	CTCF	chr6:1614120-1614270	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr6:1611660-1611810	A549	lung:	n/a	n/a
41	CTCF	chr6:1611700-1611850	GM12866	blood:	n/a	n/a
42	CTCF	chr6:1611700-1611850	HFF-Myc	foreskin:	n/a	n/a
43	CTCF	chr6:1611660-1611810	BJ	skin:	n/a	n/a
44	CTCF	chr6:1611714-1611793	MCF-7	breast:	n/a	n/a
45	CTCF	chr6:1611652-1611873	GM19238	blood:	n/a	n/a
46	CTCF	chr6:1611710-1611796	GM12878	blood:	n/a	n/a
47	CTCF	chr6:1611680-1611830	NB4	blood:	n/a	n/a
48	CTCF	chr6:1611660-1611810	HMF	breast:	n/a	n/a
49	CTCF	chr6:1611640-1611790	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr6:1611627-1611890	Fibrobl	skin:	n/a	n/a

(count:1281 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:1610669-1610719	NHBE	bronchial:	n/a
2	chr6:1612301-1612351	HCF	heart:	n/a
3	chr6:1610688-1610738	GM12878	blood:	n/a
4	chr6:1612589-1612639	BJ	skin:	n/a
5	chr6:1611451-1611501	PFSK-1	brain:	n/a
6	chr6:1610102-1610152	AG04450	lung:	fetal
7	chr6:1611451-1611501	HPAEpiC	pulmonary alveolar:	n/a
8	chr6:1610688-1610738	HepG2	liver:	n/a
9	chr6:1611712-1611762	HCM	heart:	n/a
10	chr6:1614285-1614335	H1-hESC	embryonic stem cell:	embryo
11	chr6:1611850-1611900	PANC-1	pancreas:	n/a
12	chr6:1612301-1612351	ECC-1	luminal epithelium:	n/a
13	chr6:1611451-1611501	HAEpiC	amniotic membrane:	n/a
14	chr6:1611451-1611501	HepG2	liver:	n/a
15	chr6:1610673-1610723	NHDF-neo	bronchial:	n/a
16	chr6:1609827-1609877	NT2-D1	testis:	n/a
17	chr6:1608977-1609027	A549	lung:	n/a
18	chr6:1611850-1611900	HCPEpiC	choroid plexus:	n/a
19	chr6:1615992-1616042	HAEpiC	amniotic membrane:	n/a
20	chr6:1610102-1610152	MCF10A-Er-Src	breast:	n/a
21	chr6:1608977-1609027	ProgFib	skin:	n/a
22	chr6:1612301-1612351	HRCEpiC	kidney:	n/a
23	chr6:1610120-1610170	HNPCEpiC	eye:	n/a
24	chr6:1615236-1615286	PrEC	prostate:	n/a
25	chr6:1610197-1610247	H1-hESC	embryonic stem cell:	embryo
26	chr6:1610688-1610738	PANC-1	pancreas:	n/a
27	chr6:1611712-1611762	GM12891	blood:	n/a
28	chr6:1616109-1616159	PFSK-1	brain:	n/a
29	chr6:1611712-1611762	LNCaP	prostate:	n/a
30	chr6:1608977-1609027	Caco-2	colon:	n/a
31	chr6:1611451-1611501	HCF	heart:	n/a
32	chr6:1608977-1609027	SK-N-MC	brain:	n/a
33	chr6:1610197-1610247	AoSMC	blood vessel:	n/a
34	chr6:1611451-1611501	BJ	skin:	n/a
35	chr6:1612301-1612351	HEK293	kidney:	embryo
36	chr6:1615236-1615286	AG09319	gingival:	n/a
37	chr6:1612589-1612639	LNCaP	prostate:	n/a
38	chr6:1616109-1616159	NB4	blood:	n/a
39	chr6:1610102-1610152	NT2-D1	testis:	n/a
40	chr6:1608977-1609027	GM12891	blood:	n/a
41	chr6:1615992-1616042	LNCaP	prostate:	n/a
42	chr6:1615236-1615286	K562	blood:	n/a
43	chr6:1612301-1612351	HEEpiC	esophagus:	n/a
44	chr6:1611712-1611762	HCF	heart:	n/a
45	chr6:1610669-1610719	AoSMC	blood vessel:	n/a
46	chr6:1615992-1616042	HRPEpiC	eye:	n/a
47	chr6:1610688-1610738	HRPEpiC	eye:	n/a
48	chr6:1615843-1615893	Caco-2	colon:	n/a
49	chr6:1614285-1614335	HIPEpiC	eye:	n/a
50	chr6:1610102-1610152	AG09309	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:1612762..1614490-chr6:1684651..1686337,2	MCF-7	breast:
2	chr6:1611913..1614321-chr6:1833472..1836057,3	MCF-7	breast:
3	chr6:1609895..1610404-chr7:148822727..148823549,2	HCT-116	colon:
4	chr15:72523069..72523704-chr6:1609701..1610266,2	HCT-116	colon:
5	chr6:1614281..1616575-chr6:1641666..1643678,2	MCF-7	breast:
6	chr6:1608353..1611335-chr6:2245492..2248463,2	MCF-7	breast:
7	chr6:1611214..1613001-chr6:2041317..2043810,2	MCF-7	breast:
8	chr6:1609667..1610499-chr6:2634221..2635016,2	Hela-S3	cervix:
9	chr6:1608640..1610320-chr6:2764921..2767231,2	MCF-7	breast:
10	chr6:1612582..1614145-chr6:1846859..1849142,2	MCF-7	breast:
11	chr12:52445575..52446281-chr6:1609760..1610319,2	Hela-S3	cervix:
12	chr6:1609450..1612431-chr6:1929248..1931252,2	MCF-7	breast:
13	chr6:1609612..1610158-chr7:22862032..22862665,2	NB4	blood:
14	chr6:1612577..1614591-chr6:1838798..1840944,2	MCF-7	breast:
15	chr6:1610715..1613985-chr6:2196585..2199138,3	MCF-7	breast:
16	chr6:1613523..1614289-chr6:1838606..1839498,2	MCF-7	breast:
17	chr5:112257084..112257659-chr6:1609600..1610235,2	Hela-S3	cervix:
18	chr6:1613541..1614598-chr6:1641560..1642153,3	MCF-7	breast:
19	chr6:1615844..1618039-chr6:1678564..1681319,2	MCF-7	breast:
20	chr6:1607577..1610037-chr6:2107747..2109346,3	MCF-7	breast:
21	chr6:1605093..1609098-chr6:1671097..1673871,3	MCF-7	breast:
22	chr6:1613675..1614411-chr6:1641501..1642080,3	MCF-7	breast:
23	chr19:572126..572770-chr6:1609596..1610352,2	NB4	blood:
24	chr19:39900304..39901200-chr6:1610096..1610828,2	Hela-S3	cervix:
25	chr6:1612565..1615275-chr6:1837590..1839107,2	MCF-7	breast:
26	chr6:1613450..1614402-chr6:1641238..1641879,5	MCF-7	breast:
27	chr1:183441719..183444081-chr6:1612481..1614965,2	MCF-7	breast:
28	chr6:1613601..1616757-chr6:1636130..1638960,3	MCF-7	breast:
29	chr21:27542375..27543109-chr6:1610318..1611312,2	Hela-S3	cervix:
30	chr6:1607121..1609914-chr6:1613223..1615033,2	K562	blood:
31	chr6:1608295..1609995-chr6:2876542..2878231,2	MCF-7	breast:
32	chr6:1607774..1610426-chr6:2098410..2101344,2	MCF-7	breast:
33	chr17:41438452..41439029-chr6:1609999..1610656,2	Hela-S3	cervix:
34	chr1:161101985..161102784-chr6:1609809..1610325,2	Hela-S3	cervix:
35	chr11:67887768..67889272-chr6:1609533..1611427,2	MCF-7	breast:
36	chr6:1613541..1614425-chr6:1641560..1642119,3	MCF-7	breast:
37	chr6:1607913..1609589-chr6:2471423..2474239,2	MCF-7	breast:
38	chr6:1612642..1614747-chr6:1828037..1830665,2	MCF-7	breast:
39	chr6:1608029..1610545-chr6:1915416..1919377,4	MCF-7	breast:
40	chr6:1612494..1615565-chr6:2103145..2107069,5	MCF-7	breast:
41	chr6:1612951..1615735-chr6:3066934..3068619,2	MCF-7	breast:
42	chr6:1608889..1609545-chr6:1641330..1642058,3	MCF-7	breast:
43	chr5:38845752..38846390-chr6:1609592..1610231,2	Hela-S3	cervix:
44	chr18:19749229..19749950-chr6:1614233..1614782,2	Hela-S3	cervix:
45	chr6:1613823..1614389-chr6:1641267..1641965,2	MCF-7	breast:
46	chr14:100658739..100659418-chr6:1609951..1610630,2	Hela-S3	cervix:
47	chr17:73775605..73776125-chr6:1609591..1610356,2	Hela-S3	cervix:
48	chr6:1607121..1609914-chr6:1613223..1615033,2	K562	blood:
49	chr6:1610083..1610592-chr8:77593010..77593516,2	HCT-116	colon:
50	chr6:1612605..1614594-chr6:1617750..1620318,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GMDS-6	chr6:1612000-1612105	NONHSAT106529
2	lnc-FOXC1-4	chr6:1608270-1608879	NONHSAT106523
3	lnc-FOXC1-3	chr6:1612577-1614127	NONHSAT106538
4	lnc-GMDS-6	chr6:1610339-1610832	NONHSAT106529

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	FOXC1	hsa-miR-204-5p	chr6:1613652-1613673
2	FOXC1	hsa-miR-204-5p	chr6:1612961-1612968
3	FOXC1	hsa-miR-204-5p	chr6:1612948-1612968

Variant related genes	Relation type
FOXC1	TF binding region
FOXC1	CpG island
ENSG00000197024	chromatin interactions
ENSG00000145623	chromatin interactions
ENSG00000141448	chromatin interactions
ENSG00000172270	chromatin interactions
ENSG00000091656	chromatin interactions
ENSG00000249740	chromatin interactions
ENSG00000067225	chromatin interactions
ENSG00000266559	chromatin interactions
ENSG00000112699	chromatin interactions
ENSG00000158796	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000267751	chromatin interactions
ENSG00000124535	chromatin interactions
ENSG00000196683	chromatin interactions
ENSG00000164385	chromatin interactions
ENSG00000110721	chromatin interactions
ENSG00000240877	chromatin interactions
ENSG00000129625	chromatin interactions
ENSG00000142192	chromatin interactions
ENSG00000116698	chromatin interactions
ENSG00000230438	chromatin interactions
ENSG00000204947	chromatin interactions
ENSG00000250903	chromatin interactions

Extended variants
information (count: 289 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544353942	chr6:1608872-1608873	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
2	rs35421275	chr6:1608877-1608878	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
3	rs560423814	chr6:1608886-1608887	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs376001418	chr6:1608887-1608888	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs574443940	chr6:1608910-1608911	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs539979861	chr6:1608925-1608926	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs560076004	chr6:1608968-1608969	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs35194596	chr6:1609007-1609008	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs576962278	chr6:1609040-1609041	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs545819453	chr6:1609101-1609102	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs563138335	chr6:1609145-1609146	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs541492145	chr6:1609177-1609178	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs74596504	chr6:1609215-1609216	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs79189973	chr6:1609224-1609225	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs548735856	chr6:1609258-1609259	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs562173356	chr6:1609266-1609267	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs79267480	chr6:1609280-1609281	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs547616831	chr6:1609391-1609392	Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs561482081	chr6:1609452-1609453	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs570508907	chr6:1609461-1609462	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs539399999	chr6:1609518-1609519	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs145449768	chr6:1609553-1609554	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs568774252	chr6:1609627-1609628	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs77848336	chr6:1609632-1609633	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs554726077	chr6:1609634-1609635	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs34903038	chr6:1609693-1609694	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs533885546	chr6:1609779-1609780	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs79360310	chr6:1609787-1609788	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
29	rs577024952	chr6:1609802-1609803	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs545785060	chr6:1609879-1609880	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
31	rs562489902	chr6:1610000-1610001	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
32	rs188900006	chr6:1610096-1610097	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
33	rs576654054	chr6:1610126-1610127	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
34	rs542194378	chr6:1610128-1610129	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
35	rs562299457	chr6:1610132-1610133	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
36	rs527925646	chr6:1610198-1610199	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
37	rs547972230	chr6:1610209-1610210	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
38	rs562673925	chr6:1610251-1610252	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs77888940	chr6:1610252-1610253	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs72556526	chr6:1610254-1610255	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs193116463	chr6:1610256-1610257	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs199722397	chr6:1610265-1610266	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs35342888	chr6:1610297-1610298	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
44	rs34503337	chr6:1610300-1610301	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
45	rs7755359	chr6:1610341-1610342	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
46	rs533266244	chr6:1610378-1610379	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
47	rs185790394	chr6:1610437-1610438	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
48	rs371998828	chr6:1610481-1610482	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
49	rs76225423	chr6:1610622-1610623	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
50	rs80204039	chr6:1610630-1610631	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Prader-willi syndrome	20588305	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:918 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1604200-1610800	Active TSS	Aorta	Aorta
2	chr6:1604400-1610800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:1604800-1609600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
4	chr6:1605000-1609400	Bivalent Enhancer	Fetal Thymus	thymus
5	chr6:1605000-1610800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr6:1605200-1609600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr6:1605400-1609000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:1605400-1609000	Weak transcription	HMEC	breast
9	chr6:1605400-1609400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
10	chr6:1605400-1609400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:1605400-1609400	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr6:1605600-1609000	Enhancers	Pancreas	Pancrea
13	chr6:1605600-1609000	Weak transcription	Right Atrium	heart
14	chr6:1605600-1609400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
15	chr6:1605600-1620800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:1606200-1609800	Bivalent/Poised TSS	Fetal Kidney	kidney
17	chr6:1606800-1609400	Bivalent Enhancer	Placenta	Placenta
18	chr6:1607000-1609400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:1607000-1609600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
20	chr6:1607000-1612600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr6:1607200-1609000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr6:1607200-1609200	Bivalent Enhancer	Fetal Heart	heart
23	chr6:1607200-1609200	Flanking Bivalent TSS/Enh	HepG2	liver
24	chr6:1607200-1609400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
25	chr6:1607200-1609400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr6:1607200-1609400	Bivalent Enhancer	Fetal Stomach	stomach
27	chr6:1607200-1609600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:1607200-1609600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:1607200-1610000	Bivalent Enhancer	Fetal Brain Male	brain
30	chr6:1607400-1609600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:1607600-1609200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
32	chr6:1607800-1609000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:1607800-1609400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
34	chr6:1607800-1609600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:1607800-1611200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr6:1607800-1611200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
37	chr6:1607800-1612000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
38	chr6:1608000-1609000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr6:1608000-1609400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:1608000-1609400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
41	chr6:1608000-1609400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
42	chr6:1608000-1609400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
43	chr6:1608000-1609400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
44	chr6:1608000-1609600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:1608200-1609000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
46	chr6:1608200-1609000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:1608200-1609200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
48	chr6:1608200-1609200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:1608200-1609400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:1608200-1609400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links