Variant report

Variant	nsv883382
Chromosome Location	chr6:1598942-1620037
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1111)
CpG islands
(count:4029)
Chromatin interactive
region (count:77)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:1111 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:1604693-1604875	HepG2	liver:	n/a	n/a
2	BACH1	chr6:1619401-1619601	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr6:1607320-1608188	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr6:1605311-1605633	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr6:1615087-1615984	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr6:1610104-1610166	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr6:1606771-1606935	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr6:1604319-1604785	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr6:1617779-1617848	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr6:1614087-1614865	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCLAF1	chr6:1604513-1605000	GM12878	blood:	n/a	n/a
12	BHLHE40	chr6:1604608-1604823	K562	blood:	n/a	n/a
13	BHLHE40	chr6:1615036-1615301	GM12878	blood:	n/a	n/a
14	BHLHE40	chr6:1601461-1601727	HepG2	liver:	n/a	n/a
15	BRCA1	chr6:1604710-1604771	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr6:1614115-1614575	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr6:1611004-1611154	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr6:1604586-1604860	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr6:1609984-1610210	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr6:1614129-1614341	H1-hESC	embryonic stem cell:	n/a	n/a
21	CCNT2	chr6:1604583-1604911	K562	blood:	n/a	n/a
22	CCNT2	chr6:1612051-1612251	K562	blood:	n/a	n/a
23	CEBPB	chr6:1607749-1608189	H1-hESC	embryonic stem cell:	n/a	chr6:1607995-1608008 chr6:1607997-1608008 chr6:1607995-1608006
24	CEBPB	chr6:1604680-1604690	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr6:1613979-1614222	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr6:1604659-1604858	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr6:1607710-1608099	HepG2	liver:	n/a	chr6:1607995-1608008 chr6:1607997-1608008 chr6:1607995-1608006
28	CEBPB	chr6:1609988-1610319	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr6:1612221-1612392	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr6:1601451-1601669	HepG2	liver:	n/a	n/a
31	CEBPB	chr6:1607804-1608169	HepG2	liver:	n/a	chr6:1607995-1608008 chr6:1607997-1608008 chr6:1607995-1608006
32	CEBPB	chr6:1607741-1608142	MCF-7	breast:	n/a	chr6:1607995-1608008 chr6:1607997-1608008 chr6:1607995-1608006
33	CEBPB	chr6:1607851-1608117	K562	blood:	n/a	chr6:1607995-1608008 chr6:1607997-1608008 chr6:1607995-1608006
34	CEBPB	chr6:1607752-1608182	HepG2	liver:	n/a	chr6:1607995-1608008 chr6:1607997-1608008 chr6:1607995-1608006
35	CEBPB	chr6:1607758-1608100	HepG2	liver:	n/a	chr6:1607995-1608008 chr6:1607997-1608008 chr6:1607995-1608006
36	CEBPD	chr6:1607838-1608075	HepG2	liver:	n/a	n/a
37	CHD1	chr6:1604411-1605168	IMR90	lung:	n/a	n/a
38	CHD1	chr6:1608201-1608401	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr6:1615305-1615711	H1-hESC	embryonic stem cell:	n/a	chr6:1615477-1615487
40	CHD1	chr6:1607551-1607854	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD1	chr6:1604598-1604777	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr6:1612123-1612307	Hela-S3	cervix:	n/a	n/a
43	CHD2	chr6:1607830-1608096	HepG2	liver:	n/a	n/a
44	CHD2	chr6:1614077-1614456	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr6:1613986-1614644	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr6:1611590-1611790	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr6:1606833-1608130	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr6:1604710-1604939	HepG2	liver:	n/a	n/a
49	CHD2	chr6:1610670-1611178	Hela-S3	cervix:	n/a	n/a
50	CHD2	chr6:1609365-1610382	Hela-S3	cervix:	n/a	n/a

(count:4029 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:1607507-1607557	NHDF-neo	bronchial:	n/a
2	chr6:1615843-1615893	HRE	kidney:	n/a
3	chr6:1608500-1608550	ovcar-3	ovarian:	n/a
4	chr6:1607507-1607557	NHDF-neo	bronchial:	n/a
5	chr6:1615843-1615893	HRE	kidney:	n/a
6	chr6:1608500-1608550	ovcar-3	ovarian:	n/a
7	chr6:1608667-1608717	HepG2	liver:	n/a
8	chr6:1615236-1615286	HAEpiC	amniotic membrane:	n/a
9	chr6:1617377-1617427	PFSK-1	brain:	n/a
10	chr6:1611745-1611795	HMEC	breast:	n/a
11	chr6:1604134-1604184	NHDF-neo	bronchial:	n/a
12	chr6:1606877-1606927	HRCEpiC	kidney:	n/a
13	chr6:1611451-1611501	H1-hESC	embryonic stem cell:	embryo
14	chr6:1611850-1611900	HCF	heart:	n/a
15	chr6:1615236-1615286	PANC-1	pancreas:	n/a
16	chr6:1601509-1601559	GM12892	blood:	n/a
17	chr6:1599123-1599173	SK-N-SH	brain:	n/a
18	chr6:1608107-1608157	CMK	blood:	n/a
19	chr6:1606383-1606433	PANC-1	pancreas:	n/a
20	chr6:1604212-1604262	GM12892	blood:	n/a
21	chr6:1610688-1610738	BJ	skin:	n/a
22	chr6:1605352-1605402	NHDF-neo	bronchial:	n/a
23	chr6:1619445-1619495	PANC-1	pancreas:	n/a
24	chr6:1619094-1619144	PANC-1	pancreas:	n/a
25	chr6:1604990-1605040	ECC-1	luminal epithelium:	n/a
26	chr6:1608396-1608446	Jurkat	blood:	n/a
27	chr6:1599123-1599173	SK-N-MC	brain:	n/a
28	chr6:1608500-1608550	GM12878	blood:	n/a
29	chr6:1615236-1615286	PrEC	prostate:	n/a
30	chr6:1608642-1608692	AG09319	gingival:	n/a
31	chr6:1608060-1608110	NT2-D1	testis:	n/a
32	chr6:1619162-1619212	HEEpiC	esophagus:	n/a
33	chr6:1614141-1614191	HEK293	kidney:	embryo
34	chr6:1601229-1601279	SK-N-SH	brain:	n/a
35	chr6:1604697-1604747	GM12892	blood:	n/a
36	chr6:1606348-1606398	HCT-116	colon:	n/a
37	chr6:1612589-1612639	HCF	heart:	n/a
38	chr6:1611451-1611501	GM12878	blood:	n/a
39	chr6:1616109-1616159	SKMC	muscle:	n/a
40	chr6:1612301-1612351	NHBE	bronchial:	n/a
41	chr6:1608060-1608110	Hepatocyte	liver:	n/a
42	chr6:1606877-1606927	HRPEpiC	eye:	n/a
43	chr6:1608107-1608157	NHDF-neo	bronchial:	n/a
44	chr6:1607922-1607972	Jurkat	blood:	n/a
45	chr6:1617377-1617427	HAEpiC	amniotic membrane:	n/a
46	chr6:1616792-1616842	GM12878	blood:	n/a
47	chr6:1608396-1608446	Hepatocyte	liver:	n/a
48	chr6:1603532-1603582	Hela-S3	cervix:	n/a
49	chr6:1606383-1606433	HPAEpiC	pulmonary alveolar:	n/a
50	chr6:1610102-1610152	Jurkat	blood:	n/a

(count:77 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:1607913..1609589-chr6:2471423..2474239,2	MCF-7	breast:
2	chr6:1608889..1609545-chr6:1641330..1642058,3	MCF-7	breast:
3	chr6:1596437..1597102-chr6:1604182..1604768,2	K562	blood:
4	chr6:1602365..1603969-chr6:1707557..1710103,2	MCF-7	breast:
5	chr12:52445575..52446281-chr6:1609760..1610319,2	Hela-S3	cervix:
6	chr6:1604279..1605453-chr6:2196023..2197192,6	K562	blood:
7	chr6:1611214..1613001-chr6:2041317..2043810,2	MCF-7	breast:
8	chr6:1609450..1612431-chr6:1929248..1931252,2	MCF-7	breast:
9	chr6:1614281..1616575-chr6:1641666..1643678,2	MCF-7	breast:
10	chr6:1604831..1605344-chr6:1641211..1642147,2	MCF-7	breast:
11	chr14:100658739..100659418-chr6:1609951..1610630,2	Hela-S3	cervix:
12	chr6:1608029..1610545-chr6:1915416..1919377,4	MCF-7	breast:
13	chr6:1608640..1610320-chr6:2764921..2767231,2	MCF-7	breast:
14	chr11:67887768..67889272-chr6:1609533..1611427,2	MCF-7	breast:
15	chr6:1609667..1610499-chr6:2634221..2635016,2	Hela-S3	cervix:
16	chr6:1604414..1605201-chr6:1686792..1687667,3	MCF-7	breast:
17	chr6:1599906..1601907-chr6:1602978..1605536,2	K562	blood:
18	chr21:27542375..27543109-chr6:1610318..1611312,2	Hela-S3	cervix:
19	chr6:1609612..1610158-chr7:22862032..22862665,2	NB4	blood:
20	chr6:1607121..1609914-chr6:1613223..1615033,2	K562	blood:
21	chr6:1604656..1605296-chr6:2353868..2354569,4	MCF-7	breast:
22	chr6:1611913..1614321-chr6:1833472..1836057,3	MCF-7	breast:
23	chr6:1604389..1605339-chr6:2037539..2038714,6	MCF-7	breast:
24	chr6:1613675..1614411-chr6:1641501..1642080,3	MCF-7	breast:
25	chr6:1609895..1610404-chr7:148822727..148823549,2	HCT-116	colon:
26	chr1:161101985..161102784-chr6:1609809..1610325,2	Hela-S3	cervix:
27	chr6:1606529..1608370-chr6:1661699..1664667,2	MCF-7	breast:
28	chr6:1607774..1610426-chr6:2098410..2101344,2	MCF-7	breast:
29	chr6:1615844..1618039-chr6:1678564..1681319,2	MCF-7	breast:
30	chr19:39900304..39901200-chr6:1610096..1610828,2	Hela-S3	cervix:
31	chr6:1617838..1620812-chr6:1634343..1637203,2	K562	blood:
32	chr6:1608295..1609995-chr6:2876542..2878231,2	MCF-7	breast:
33	chr18:19749229..19749950-chr6:1614233..1614782,2	Hela-S3	cervix:
34	chr6:1606456..1608668-chr6:2173309..2175661,2	MCF-7	breast:
35	chr6:1612565..1615275-chr6:1837590..1839107,2	MCF-7	breast:
36	chr6:1613523..1614289-chr6:1838606..1839498,2	MCF-7	breast:
37	chr6:1612494..1615565-chr6:2103145..2107069,5	MCF-7	breast:
38	chr6:1604178..1605147-chr6:1698461..1699421,2	MCF-7	breast:
39	chr6:1604255..1605544-chr6:2104014..2105193,5	K562	blood:
40	chr6:1612577..1614591-chr6:1838798..1840944,2	MCF-7	breast:
41	chr6:1612951..1615735-chr6:3066934..3068619,2	MCF-7	breast:
42	chr17:73775605..73776125-chr6:1609591..1610356,2	Hela-S3	cervix:
43	chr6:1612605..1614594-chr6:1617750..1620318,2	K562	blood:
44	chr19:572126..572770-chr6:1609596..1610352,2	NB4	blood:
45	chr15:72523069..72523704-chr6:1609701..1610266,2	HCT-116	colon:
46	chr1:183441719..183444081-chr6:1612481..1614965,2	MCF-7	breast:
47	chr6:1605093..1609098-chr6:1671097..1673871,3	MCF-7	breast:
48	chr6:1603882..1604773-chr6:2196250..2196916,2	MCF-7	breast:
49	chr6:1619912..1621800-chr6:1626209..1627761,2	K562	blood:
50	chr5:112257084..112257659-chr6:1609600..1610235,2	Hela-S3	cervix:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FOXC1-3	chr6:1612577-1614127	NONHSAT106538
2	lnc-FOXC1-4	chr6:1608270-1608879	NONHSAT106523
3	lnc-FOXC1-1	chr6:1604457-1604593	NONHSAT106530
4	lnc-FOXC1-1	chr6:1606251-1607583	NONHSAT106530
5	lnc-GMDS-6	chr6:1605088-1607351	NONHSAT106531
6	lnc-GMDS-6	chr6:1612000-1612105	NONHSAT106529
7	lnc-FOXC1-1	chr6:1606251-1607305	XLOC_005125
8	lnc-GMDS-6	chr6:1605756-1606556	NONHSAT106519
9	lnc-FOXC1-1	chr6:1605724-1606034	XLOC_005125
10	lnc-GMDS-6	chr6:1603265-1608466	NONHSAT106529
11	lnc-GMDS-6	chr6:1610339-1610832	NONHSAT106529
12	lnc-GMDS-6	chr6:1605557-1605779	NONHSAT106520

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	chr6:1612948-1612968
3	FOXC1	hsa-miR-204-5p	chr6:1612961-1612968

Variant related genes	Relation type
FOXC1	TF binding region
FOXC1	CpG island
ENSG00000196683	chromatin interactions
ENSG00000142192	chromatin interactions
ENSG00000116698	chromatin interactions
ENSG00000240877	chromatin interactions
ENSG00000067225	chromatin interactions
ENSG00000250903	chromatin interactions
ENSG00000129625	chromatin interactions
ENSG00000091656	chromatin interactions
ENSG00000141448	chromatin interactions
ENSG00000112699	chromatin interactions
ENSG00000249740	chromatin interactions
ENSG00000172270	chromatin interactions
ENSG00000197024	chromatin interactions
ENSG00000164385	chromatin interactions
ENSG00000204947	chromatin interactions
ENSG00000230438	chromatin interactions
ENSG00000124535	chromatin interactions
ENSG00000054598	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000110721	chromatin interactions
ENSG00000158796	chromatin interactions
ENSG00000145623	chromatin interactions
ENSG00000267751	chromatin interactions
ENSG00000266559	chromatin interactions

Extended variants
information (count: 783 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:783 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2235715	chr6:1598942-1598943	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376803305	chr6:1598974-1598975	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs116958199	chr6:1598993-1598994	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs530856649	chr6:1599018-1599019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550091333	chr6:1599049-1599050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376639855	chr6:1599055-1599056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149273977	chr6:1599094-1599095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147085932	chr6:1599121-1599122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75797701	chr6:1599124-1599125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185944782	chr6:1599172-1599173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534704055	chr6:1599177-1599178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372439836	chr6:1599180-1599181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557612655	chr6:1599196-1599197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577555462	chr6:1599267-1599268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546194962	chr6:1599354-1599355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114705980	chr6:1599364-1599365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10900911	chr6:1599374-1599375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573965578	chr6:1599392-1599393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190601986	chr6:1599428-1599429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539006375	chr6:1599455-1599456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375995912	chr6:1599461-1599462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559504605	chr6:1599473-1599474	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs183984279	chr6:1599535-1599536	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs187374285	chr6:1599548-1599549	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs545481219	chr6:1599551-1599552	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs2745582	chr6:1599574-1599575	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs113846779	chr6:1599617-1599618	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs2569851	chr6:1599647-1599648	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs544572953	chr6:1599648-1599649	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs2745583	chr6:1599654-1599655	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs529170315	chr6:1599683-1599684	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549335986	chr6:1599740-1599741	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs191016570	chr6:1599742-1599743	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs2816230	chr6:1599746-1599747	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs114053087	chr6:1599747-1599748	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs537166816	chr6:1599773-1599774	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs555065173	chr6:1599794-1599795	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs2745584	chr6:1599819-1599820	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs370084148	chr6:1599826-1599827	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs536533425	chr6:1599843-1599844	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs12523668	chr6:1599893-1599894	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs573381342	chr6:1599903-1599904	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs2569852	chr6:1599926-1599927	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs2816231	chr6:1599944-1599945	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs575612978	chr6:1599945-1599946	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs544738479	chr6:1599948-1599949	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs561242403	chr6:1600032-1600033	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530149028	chr6:1600113-1600114	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs182584219	chr6:1600199-1600200	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs559340584	chr6:1600207-1600208	Enhancers Weak transcription	Chromatin interactive region	1 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:1655 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1595800-1599200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:1596600-1601400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:1596600-1604800	Weak transcription	Gastric	stomach
4	chr6:1596800-1604400	Weak transcription	Right Atrium	heart
5	chr6:1597000-1599000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:1597000-1599000	Enhancers	HMEC	breast
7	chr6:1597000-1601000	Weak transcription	Aorta	Aorta
8	chr6:1597400-1601400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:1597600-1599000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:1598200-1604200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:1598200-1604200	Weak transcription	A549	lung
12	chr6:1598600-1604400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:1598800-1604400	Weak transcription	Hela-S3	cervix
14	chr6:1599000-1604400	Weak transcription	HMEC	breast
15	chr6:1599200-1599800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:1601000-1601200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:1601000-1601200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
18	chr6:1601000-1601200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
19	chr6:1601000-1601600	Enhancers	Aorta	Aorta
20	chr6:1601000-1601600	Bivalent Enhancer	Fetal Intestine Large	intestine
21	chr6:1601000-1601800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
22	chr6:1601000-1601800	Bivalent Enhancer	Stomach Mucosa	stomach
23	chr6:1601000-1601800	Bivalent Enhancer	HepG2	liver
24	chr6:1601000-1602000	Bivalent Enhancer	Brain Germinal Matrix	brain
25	chr6:1601200-1601400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:1601200-1601400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
27	chr6:1601200-1601600	Bivalent Enhancer	Fetal Lung	lung
28	chr6:1601200-1601800	Bivalent Enhancer	Fetal Intestine Small	intestine
29	chr6:1601200-1602000	Bivalent Enhancer	Liver	Liver
30	chr6:1601400-1601600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:1601400-1601800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
32	chr6:1601400-1601800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
33	chr6:1601400-1601800	Bivalent Enhancer	Fetal Heart	heart
34	chr6:1601400-1601800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
35	chr6:1601400-1602000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:1601400-1602000	Bivalent Enhancer	Fetal Brain Male	brain
37	chr6:1601600-1601800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
38	chr6:1601600-1601800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr6:1601600-1601800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr6:1601600-1601800	Bivalent Enhancer	HUVEC	blood vessel
41	chr6:1601600-1601800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
42	chr6:1601600-1602000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
43	chr6:1601600-1602000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:1601600-1602000	Active TSS	Aorta	Aorta
45	chr6:1601600-1602000	Bivalent Enhancer	Colonic Mucosa	Colon
46	chr6:1601600-1602000	Bivalent Enhancer	Fetal Stomach	stomach
47	chr6:1601800-1602000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
48	chr6:1601800-1602000	Bivalent Enhancer	NH-A	brain
49	chr6:1602000-1602200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:1602000-1602200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon

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