Variant report

Variant	esv3377564
Chromosome Location	chr6:109803284-109806132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:443)
CpG islands
(count:305)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:443 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:109803773-109804079	HepG2	liver:	n/a	n/a
2	ATF3	chr6:109804272-109804511	HepG2	liver:	n/a	n/a
3	ATF3	chr6:109804341-109804533	GM12878	blood:	n/a	n/a
4	ATF3	chr6:109804313-109804523	K562	blood:	n/a	n/a
5	ATF3	chr6:109804214-109804545	GM12878	blood:	n/a	n/a
6	BACH1	chr6:109804377-109804382	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr6:109803848-109804593	GM12878	blood:	n/a	n/a
8	BHLHE40	chr6:109803784-109804534	K562	blood:	n/a	n/a
9	BHLHE40	chr6:109803838-109804534	HepG2	liver:	n/a	n/a
10	BRCA1	chr6:109804357-109804472	Hela-S3	cervix:	n/a	n/a
11	CCNT2	chr6:109803978-109805009	K562	blood:	n/a	chr6:109804230-109804239
12	CEBPB	chr6:109803672-109804137	A549	lung:	n/a	chr6:109803942-109803953
13	CEBPB	chr6:109803632-109804219	H1-hESC	embryonic stem cell:	n/a	chr6:109803942-109803953
14	CEBPB	chr6:109803637-109804501	Hela-S3	cervix:	n/a	chr6:109803942-109803953
15	CEBPB	chr6:109803635-109804193	IMR90	lung:	n/a	chr6:109803942-109803953
16	CEBPB	chr6:109803647-109804548	HepG2	liver:	n/a	chr6:109803942-109803953
17	CEBPB	chr6:109803728-109804148	HepG2	liver:	n/a	chr6:109803942-109803953
18	CEBPB	chr6:109803658-109804023	K562	blood:	n/a	chr6:109803942-109803953
19	CEBPB	chr6:109803676-109803852	HepG2	liver:	n/a	n/a
20	CEBPB	chr6:109803655-109804135	K562	blood:	n/a	chr6:109803942-109803953
21	CEBPB	chr6:109803625-109804159	K562	blood:	n/a	chr6:109803942-109803953
22	CEBPB	chr6:109803681-109804099	ECC-1	luminal epithelium:	n/a	chr6:109803942-109803953
23	CEBPB	chr6:109803603-109804124	ECC-1	luminal epithelium:	n/a	chr6:109803942-109803953
24	CEBPB	chr6:109803666-109804180	MCF-7	breast:	n/a	chr6:109803942-109803953
25	CEBPB	chr6:109803635-109804179	HepG2	liver:	n/a	chr6:109803942-109803953
26	CEBPB	chr6:109803664-109804196	MCF-7	breast:	n/a	chr6:109803942-109803953
27	CEBPD	chr6:109804162-109804527	HepG2	liver:	n/a	n/a
28	CHD1	chr6:109803863-109804345	GM12878	blood:	n/a	n/a
29	CHD1	chr6:109803793-109804085	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr6:109804346-109804526	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr6:109804045-109805000	Hela-S3	cervix:	n/a	n/a
32	CHD2	chr6:109804381-109804432	HepG2	liver:	n/a	n/a
33	CHD2	chr6:109804239-109804423	K562	blood:	n/a	n/a
34	CHD2	chr6:109803758-109804561	GM12878	blood:	n/a	n/a
35	CHD2	chr6:109804986-109805001	GM12878	blood:	n/a	n/a
36	CREB1	chr6:109804091-109804719	HepG2	liver:	n/a	n/a
37	CREB1	chr6:109804214-109804619	A549	lung:	n/a	n/a
38	CTBP2	chr6:109803683-109804343	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr6:109803526-109803612	MCF-7	breast:	n/a	n/a
40	CTCF	chr6:109803515-109803627	GM12891	blood:	n/a	n/a
41	CTCF	chr6:109804120-109804270	GM12875	blood:	n/a	chr6:109804141-109804150
42	CTCF	chr6:109804360-109804510	AG04449	skin:	n/a	chr6:109804493-109804502
43	CTCF	chr6:109803544-109803562	GM19238	blood:	n/a	n/a
44	CTCF	chr6:109803391-109803662	GM12878	blood:	n/a	n/a
45	CTCF	chr6:109803495-109803577	GM10266	blood:	n/a	n/a
46	CTCF	chr6:109803400-109803550	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr6:109803481-109803661	MCF-7	breast:	n/a	n/a
48	CTCF	chr6:109803557-109803578	MCF-7	breast:	n/a	n/a
49	CTCF	chr6:109803480-109803663	MCF-7	breast:	n/a	n/a
50	CTCF	chr6:109803525-109803621	GM19240	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:109805074-109805124	ProgFib	skin:	n/a
2	chr6:109804970-109805020	AoSMC	blood vessel:	n/a
3	chr6:109804852-109804902	HMEC	breast:	n/a
4	chr6:109804970-109805020	U87	brain:	n/a
5	chr6:109804103-109804153	AoSMC	blood vessel:	n/a
6	chr6:109804103-109804153	HRCEpiC	kidney:	n/a
7	chr6:109804376-109804426	MCF10A-Er-Src	breast:	n/a
8	chr6:109804852-109804902	GM12891	blood:	n/a
9	chr6:109804852-109804902	CMK	blood:	n/a
10	chr6:109804970-109805020	HRCEpiC	kidney:	n/a
11	chr6:109805074-109805124	PANC-1	pancreas:	n/a
12	chr6:109805074-109805124	HCM	heart:	n/a
13	chr6:109804103-109804153	PrEC	prostate:	n/a
14	chr6:109804970-109805020	H1-hESC	embryonic stem cell:	embryo
15	chr6:109804103-109804153	HCM	heart:	n/a
16	chr6:109804376-109804426	HCM	heart:	n/a
17	chr6:109804103-109804153	NHDF-neo	bronchial:	n/a
18	chr6:109805074-109805124	PrEC	prostate:	n/a
19	chr6:109805074-109805124	HepG2	liver:	n/a
20	chr6:109804103-109804153	HepG2	liver:	n/a
21	chr6:109804970-109805020	Hepatocyte	liver:	n/a
22	chr6:109804103-109804153	ProgFib	skin:	n/a
23	chr6:109804103-109804153	Hela-S3	cervix:	n/a
24	chr6:109804970-109805020	HCT-116	colon:	n/a
25	chr6:109804103-109804153	HCPEpiC	choroid plexus:	n/a
26	chr6:109804852-109804902	PANC-1	pancreas:	n/a
27	chr6:109804376-109804426	A549	lung:	n/a
28	chr6:109804970-109805020	Hela-S3	cervix:	n/a
29	chr6:109804103-109804153	HRE	kidney:	n/a
30	chr6:109804970-109805020	Caco-2	colon:	n/a
31	chr6:109805074-109805124	NHBE	bronchial:	n/a
32	chr6:109804970-109805020	SK-N-MC	brain:	n/a
33	chr6:109804376-109804426	NHBE	bronchial:	n/a
34	chr6:109804103-109804153	IMR90	lung:	fetal
35	chr6:109804970-109805020	IMR90	lung:	fetal
36	chr6:109804970-109805020	SKMC	muscle:	n/a
37	chr6:109804970-109805020	GM12891	blood:	n/a
38	chr6:109804970-109805020	LNCaP	prostate:	n/a
39	chr6:109804376-109804426	AG09309	skin:	n/a
40	chr6:109804103-109804153	AG10803	skin:	n/a
41	chr6:109804103-109804153	AG09319	gingival:	n/a
42	chr6:109804970-109805020	HCPEpiC	choroid plexus:	n/a
43	chr6:109805074-109805124	H1-hESC	embryonic stem cell:	embryo
44	chr6:109804970-109805020	MCF10A-Er-Src	breast:	n/a
45	chr6:109805074-109805124	SKMC	muscle:	n/a
46	chr6:109805074-109805124	SAEC	small airway:	n/a
47	chr6:109804376-109804426	RPTEC	kidney:	n/a
48	chr6:109805074-109805124	Hela-S3	cervix:	n/a
49	chr6:109804970-109805020	Jurkat	blood:	n/a
50	chr6:109804376-109804426	HIPEpiC	eye:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:109804505..109806373-chr6:109808766..109811459,2	K562	blood:
2	chr6:109700978..109703685-chr6:109804896..109807033,2	MCF-7	breast:
3	chr6:109759628..109764398-chr6:109803414..109806709,4	K562	blood:
4	chr6:109787055..109789260-chr6:109802525..109804653,2	K562	blood:
5	chr6:109760146..109763576-chr6:109804047..109805770,3	MCF-7	breast:
6	chr6:109804488..109806145-chr6:109811754..109813384,2	K562	blood:
7	chr6:109802624..109804740-chr6:109806103..109808684,3	MCF-7	breast:
8	chr6:109702597..109705942-chr6:109803330..109806291,3	K562	blood:
9	chr6:31782365..31783340-chr6:109804610..109805551,2	Hela-S3	cervix:
10	chr6:109774750..109777186-chr6:109800628..109803875,3	K562	blood:
11	chr6:109759652..109764361-chr6:109800705..109806354,8	K562	blood:
12	chr6:109802318..109804692-chr6:109827428..109829307,3	MCF-7	breast:
13	chr6:109760182..109762059-chr6:109802883..109805670,2	MCF-7	breast:
14	chr6:109703226..109705290-chr6:109802868..109805423,2	K562	blood:
15	chr6:109775795..109777582-chr6:109802976..109804493,2	MCF-7	breast:
16	chr6:109774016..109776250-chr6:109801827..109803875,2	K562	blood:

No data

Variant related genes	Relation type
ZBTB24	TF binding region
ENSG00000223537	TF binding region
ZBTB24	CpG island
ENSG00000223537	CpG island
ENSG00000155085	chromatin interactions
ENSG00000223537	chromatin interactions
ENSG00000135535	chromatin interactions
ENSG00000185250	chromatin interactions
ENSG00000204389	chromatin interactions
ENSG00000260273	chromatin interactions
ENSG00000135587	chromatin interactions
ENSG00000204390	chromatin interactions
ENSG00000135596	chromatin interactions
ENSG00000112365	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138291364	chr6:109803341-109803342	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs143861863	chr6:109803402-109803403	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs534555905	chr6:109803407-109803408	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs554171416	chr6:109803413-109803414	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs577425866	chr6:109803465-109803466	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs112356428	chr6:109803505-109803506	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs535316748	chr6:109803564-109803565	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs144277910	chr6:109803574-109803575	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs68042406	chr6:109803595-109803596	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs541931996	chr6:109803616-109803617	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs184005483	chr6:109803674-109803675	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs571946295	chr6:109803719-109803720	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs540978220	chr6:109803773-109803774	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs564236768	chr6:109803823-109803824	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs533026786	chr6:109803864-109803865	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs549591580	chr6:109803893-109803894	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs73520940	chr6:109803994-109803995	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs189260136	chr6:109804044-109804045	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs151029482	chr6:109804050-109804051	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs531730743	chr6:109804058-109804059	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs374826159	chr6:109804060-109804061	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs548388537	chr6:109804080-109804081	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs568494579	chr6:109804103-109804104	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs533949636	chr6:109804105-109804106	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs547734977	chr6:109804112-109804113	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs535465846	chr6:109804129-109804130	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs13437135	chr6:109804172-109804173	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs540116468	chr6:109804184-109804185	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs556830776	chr6:109804227-109804228	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs576702716	chr6:109804247-109804248	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs535586118	chr6:109804248-109804249	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs13437139	chr6:109804311-109804312	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs572068699	chr6:109804320-109804321	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs540689524	chr6:109804341-109804342	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs557711471	chr6:109804355-109804356	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs577548432	chr6:109804366-109804367	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs543301440	chr6:109804402-109804403	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs563188860	chr6:109804414-109804415	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs529056535	chr6:109804518-109804519	Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs71539090	chr6:109804681-109804682	Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	mRNA abundance
41	rs71015583	chr6:109804770-109804771	Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs542681510	chr6:109804860-109804861	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs374912401	chr6:109804880-109804881	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs115102479	chr6:109804897-109804898	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs367992367	chr6:109804914-109804915	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs181531196	chr6:109804925-109804926	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs185056048	chr6:109804926-109804927	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs144499019	chr6:109804927-109804928	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs533711960	chr6:109804948-109804949	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs190702449	chr6:109804954-109804955	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Intellectual disability	22102821	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109797800-109803400	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr6:109798000-109803400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:109798000-109803400	Genic enhancers	Fetal Thymus	thymus
4	chr6:109798600-109803400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
5	chr6:109799200-109803400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:109799200-109803400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:109799200-109803400	Weak transcription	Esophagus	oesophagus
8	chr6:109799600-109803800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:109799800-109803400	Enhancers	Ovary	ovary
10	chr6:109800000-109803400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:109800800-109803400	Enhancers	Thymus	Thymus
12	chr6:109801000-109803400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:109801200-109803400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:109801200-109803600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:109801200-109803600	Enhancers	Fetal Heart	heart
16	chr6:109801400-109803400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
17	chr6:109801400-109803400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:109801400-109803400	Genic enhancers	Fetal Muscle Leg	muscle
19	chr6:109801400-109803400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
20	chr6:109801400-109804400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
21	chr6:109801600-109803400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:109801600-109803400	Enhancers	Right Ventricle	heart
23	chr6:109801600-109803400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
24	chr6:109801600-109804200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:109801800-109803400	Genic enhancers	Brain Cingulate Gyrus	brain
26	chr6:109801800-109803400	Transcr. at gene 5' and 3'	A549	lung
27	chr6:109801800-109803800	Enhancers	Stomach Mucosa	stomach
28	chr6:109802000-109803400	Genic enhancers	Primary monocytes fromperipheralblood	blood
29	chr6:109802000-109803400	Enhancers	Psoas Muscle	Psoas
30	chr6:109802200-109803400	Genic enhancers	Fetal Stomach	stomach
31	chr6:109802200-109803400	Genic enhancers	Lung	lung
32	chr6:109802200-109803400	Enhancers	Right Atrium	heart
33	chr6:109802200-109803400	Enhancers	Small Intestine	intestine
34	chr6:109802200-109803600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr6:109802400-109803400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr6:109802400-109803600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr6:109802400-109803600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr6:109802600-109803400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:109802600-109803400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr6:109802600-109803400	Enhancers	Brain Hippocampus Middle	brain
41	chr6:109802600-109803400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr6:109802600-109803400	Weak transcription	Fetal Brain Male	brain
43	chr6:109802600-109803800	Enhancers	Spleen	Spleen
44	chr6:109802800-109803400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:109802800-109803400	Enhancers	Brain Angular Gyrus	brain
46	chr6:109802800-109803400	Enhancers	HepG2	liver
47	chr6:109802800-109803400	Enhancers	HUVEC	blood vessel
48	chr6:109802800-109803600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr6:109802800-109804000	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr6:109803000-109803400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links