Variant report

Variant	esv3437848
Chromosome Location	chr7:22395252-22397800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:250)
CpG islands
(count:489)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:250 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:22397040-22397640	HepG2	liver:	n/a	n/a
2	BACH1	chr7:22395958-22396124	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr7:22396582-22397110	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr7:22395948-22397776	HepG2	liver:	n/a	chr7:22396791-22396807
5	BHLHE40	chr7:22395839-22396507	GM12878	blood:	n/a	n/a
6	CEBPD	chr7:22396609-22396859	HepG2	liver:	n/a	n/a
7	CHD1	chr7:22396640-22396660	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr7:22395824-22396452	GM12878	blood:	n/a	chr7:22396237-22396247
9	CHD2	chr7:22397048-22397625	HepG2	liver:	n/a	n/a
10	CTCF	chr7:22396400-22396550	GM12875	blood:	n/a	n/a
11	CTCF	chr7:22396723-22396833	LNCaP	prostate:	n/a	n/a
12	CTCF	chr7:22396727-22396778	GM19239	blood:	n/a	n/a
13	CTCF	chr7:22396600-22396750	SAEC	small airway:	n/a	n/a
14	CTCF	chr7:22396728-22396736	MCF-7	breast:	n/a	n/a
15	CTCF	chr7:22396420-22396570	GM12872	blood:	n/a	n/a
16	CTCF	chr7:22396380-22396530	GM12875	blood:	n/a	n/a
17	CTCF	chr7:22395320-22395470	GM12872	blood:	n/a	n/a
18	CTCF	chr7:22396459-22396525	GM19239	blood:	n/a	n/a
19	CTCF	chr7:22395440-22395590	GM06990	blood:	n/a	n/a
20	CTCF	chr7:22395300-22395450	GM06990	blood:	n/a	n/a
21	CTCF	chr7:22396660-22396810	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr7:22396660-22396810	NHEK	skin:	n/a	n/a
23	CTCF	chr7:22397400-22397550	HMEC	breast:	n/a	n/a
24	CTCF	chr7:22396620-22396770	GM12872	blood:	n/a	n/a
25	CTCF	chr7:22396660-22396810	GM12868	blood:	n/a	n/a
26	CTCF	chr7:22396340-22396490	GM12867	blood:	n/a	n/a
27	CTCF	chr7:22396685-22396803	MCF-7	breast:	n/a	n/a
28	CTCF	chr7:22397600-22397750	HMEC	breast:	n/a	n/a
29	CTCF	chr7:22396700-22396776	Pancreas_OC	pancreas:	n/a	n/a
30	CTCF	chr7:22396640-22396790	GM12865	blood:	n/a	n/a
31	CTCF	chr7:22395322-22395384	GM12892	blood:	n/a	n/a
32	CTCF	chr7:22396400-22396550	GM12869	blood:	n/a	n/a
33	CTCF	chr7:22396495-22396516	MCF-7	breast:	n/a	n/a
34	CTCF	chr7:22396420-22396570	GM12866	blood:	n/a	n/a
35	CTCF	chr7:22396320-22396470	HMEC	breast:	n/a	n/a
36	CTCF	chr7:22396620-22396770	SAEC	small airway:	n/a	n/a
37	CTCF	chr7:22395320-22395470	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr7:22396660-22396810	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr7:22396712-22396719	MCF-7	breast:	n/a	n/a
40	CTCF	chr7:22396707-22396769	MCF-7	breast:	n/a	n/a
41	CTCF	chr7:22396640-22396790	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr7:22396380-22396530	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr7:22396420-22396570	GM12871	blood:	n/a	n/a
44	CTCF	chr7:22396620-22396770	HMEC	breast:	n/a	n/a
45	CTCF	chr7:22396712-22396784	GM10266	blood:	n/a	n/a
46	E2F4	chr7:22396756-22397637	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F6	chr7:22396538-22397402	H1-hESC	embryonic stem cell:	n/a	chr7:22396694-22396704
48	E2F6	chr7:22396744-22397636	H1-hESC	embryonic stem cell:	n/a	n/a
49	EBF1	chr7:22396552-22396964	GM12878	blood:	n/a	n/a
50	EBF1	chr7:22395589-22395860	GM12878	blood:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:22396644-22396694	HIPEpiC	eye:	n/a
2	chr7:22396644-22396694	HIPEpiC	eye:	n/a
3	chr7:22395217-22395267	HUVEC	blood vessel:	n/a
4	chr7:22396637-22396687	U87	brain:	n/a
5	chr7:22396637-22396687	GM19239	blood:	n/a
6	chr7:22396974-22397024	K562	blood:	n/a
7	chr7:22395217-22395267	PrEC	prostate:	n/a
8	chr7:22396146-22396196	HCPEpiC	choroid plexus:	n/a
9	chr7:22396410-22396460	NH-A	brain:	n/a
10	chr7:22396410-22396460	K562	blood:	n/a
11	chr7:22397000-22397050	AG04449	skin:	fetal
12	chr7:22397000-22397050	IMR90	lung:	fetal
13	chr7:22397000-22397050	HNPCEpiC	eye:	n/a
14	chr7:22396296-22396346	T-47D	breast:	n/a
15	chr7:22396637-22396687	HUVEC	blood vessel:	n/a
16	chr7:22396637-22396687	BE2_C	brain:	n/a
17	chr7:22397000-22397050	Jurkat	blood:	n/a
18	chr7:22396296-22396346	AoSMC	blood vessel:	n/a
19	chr7:22396637-22396687	AG10803	skin:	n/a
20	chr7:22396644-22396694	HCF	heart:	n/a
21	chr7:22397000-22397050	LNCaP	prostate:	n/a
22	chr7:22396146-22396196	HCT-116	colon:	n/a
23	chr7:22395217-22395267	ovcar-3	ovarian:	n/a
24	chr7:22396637-22396687	HCPEpiC	choroid plexus:	n/a
25	chr7:22396296-22396346	NB4	blood:	n/a
26	chr7:22396974-22397024	HPAEpiC	pulmonary alveolar:	n/a
27	chr7:22396974-22397024	AG04449	skin:	fetal
28	chr7:22397000-22397050	SK-N-SH	brain:	n/a
29	chr7:22396974-22397024	HUVEC	blood vessel:	n/a
30	chr7:22396644-22396694	GM06990	blood:	n/a
31	chr7:22396296-22396346	ProgFib	skin:	n/a
32	chr7:22396296-22396346	HEEpiC	esophagus:	n/a
33	chr7:22396644-22396694	Caco-2	colon:	n/a
34	chr7:22396146-22396196	ECC-1	luminal epithelium:	n/a
35	chr7:22396974-22397024	LNCaP	prostate:	n/a
36	chr7:22397000-22397050	SKMC	muscle:	n/a
37	chr7:22396146-22396196	BJ	skin:	n/a
38	chr7:22396296-22396346	SKMC	muscle:	n/a
39	chr7:22396296-22396346	PANC-1	pancreas:	n/a
40	chr7:22396644-22396694	AG09319	gingival:	n/a
41	chr7:22396146-22396196	HRPEpiC	eye:	n/a
42	chr7:22395217-22395267	HCM	heart:	n/a
43	chr7:22396637-22396687	SKMC	muscle:	n/a
44	chr7:22397000-22397050	HCF	heart:	n/a
45	chr7:22397000-22397050	HCT-116	colon:	n/a
46	chr7:22396296-22396346	GM12878	blood:	n/a
47	chr7:22396146-22396196	AG09319	gingival:	n/a
48	chr7:22396410-22396460	RPTEC	kidney:	n/a
49	chr7:22396974-22397024	NB4	blood:	n/a
50	chr7:22396637-22396687	NHDF-neo	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:22396965..22399007-chr7:22400295..22402165,2	K562	blood:
2	chr7:22397116..22399145-chr7:22400776..22403703,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STEAP1B-4	chr7:22396449-22396529	NONHSAT119460
2	lnc-STEAP1B-4	chr7:22395929-22396230	NONHSAT119460

No data

Variant related genes	Relation type
RAPGEF5	TF binding region
RAPGEF5	CpG island

Extended variants
information (count: 72 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28615848	chr7:22395254-22395255	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530710428	chr7:22395255-22395256	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs571129627	chr7:22395261-22395262	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs61117472	chr7:22395265-22395266	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564371478	chr7:22395271-22395272	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs143886595	chr7:22395337-22395338	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs565996459	chr7:22395385-22395386	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs112707180	chr7:22395391-22395392	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs35099910	chr7:22395400-22395401	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs189069386	chr7:22395410-22395411	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs116990189	chr7:22395425-22395426	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs115490991	chr7:22395437-22395438	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs181411765	chr7:22395470-22395471	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs146398810	chr7:22395511-22395512	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs574219057	chr7:22395563-22395564	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs538404762	chr7:22395608-22395609	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs535364100	chr7:22395679-22395680	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs371609796	chr7:22395736-22395737	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs555332745	chr7:22395790-22395791	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs558081408	chr7:22395796-22395797	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs148495160	chr7:22395830-22395831	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs75513275	chr7:22395853-22395854	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs142804995	chr7:22395857-22395858	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs535313462	chr7:22395913-22395914	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs543072569	chr7:22395938-22395939	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs568724316	chr7:22395942-22395943	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs556667080	chr7:22395993-22395994	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs542644333	chr7:22396012-22396013	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs576476259	chr7:22396015-22396016	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs78161258	chr7:22396040-22396041	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs112232114	chr7:22396050-22396051	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs528245031	chr7:22396096-22396097	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs564132516	chr7:22396116-22396117	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs533202097	chr7:22396165-22396166	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs540127720	chr7:22396196-22396197	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs3213677	chr7:22396236-22396237	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs548588057	chr7:22396388-22396389	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs113864357	chr7:22396399-22396400	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs562566086	chr7:22396417-22396418	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs531315826	chr7:22396425-22396426	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs551903959	chr7:22396635-22396636	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs201846781	chr7:22396668-22396669	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs528380623	chr7:22396898-22396899	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs571744414	chr7:22396926-22396927	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs545118177	chr7:22396998-22396999	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs534433505	chr7:22397000-22397001	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs548089003	chr7:22397075-22397076	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs113015634	chr7:22397082-22397083	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs10257172	chr7:22397187-22397188	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs556293020	chr7:22397209-22397210	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Follicular lymphoma	20505157	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22384200-22395800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:22392400-22396200	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr7:22393800-22397000	Active TSS	Brain Anterior Caudate	brain
4	chr7:22394000-22395800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr7:22394200-22397000	Active TSS	Brain Angular Gyrus	brain
6	chr7:22394400-22397600	Active TSS	Duodenum Mucosa	Duodenum
7	chr7:22394600-22395400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:22394800-22397000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:22395000-22395400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
10	chr7:22395000-22395400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr7:22395000-22395400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr7:22395000-22395400	Flanking Bivalent TSS/Enh	HepG2	liver
13	chr7:22395000-22395600	Flanking Active TSS	Fetal Intestine Small	intestine
14	chr7:22395000-22396000	Flanking Active TSS	Fetal Thymus	thymus
15	chr7:22395000-22396200	Flanking Active TSS	Liver	Liver
16	chr7:22395000-22396200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
17	chr7:22395000-22397000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:22395000-22397000	Active TSS	Esophagus	oesophagus
19	chr7:22395000-22397000	Active TSS	Fetal Intestine Large	intestine
20	chr7:22395000-22397000	Active TSS	GM12878-XiMat	blood
21	chr7:22395000-22397200	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr7:22395000-22397600	Active TSS	Brain Cingulate Gyrus	brain
23	chr7:22395200-22395400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
24	chr7:22395200-22395400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr7:22395200-22395400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
26	chr7:22395200-22395400	Enhancers	Primary B cells from cord blood	blood
27	chr7:22395200-22395400	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr7:22395200-22395400	Enhancers	Gastric	stomach
29	chr7:22395200-22395400	Flanking Active TSS	Pancreas	Pancrea
30	chr7:22395200-22395400	Flanking Active TSS	Thymus	Thymus
31	chr7:22395200-22395600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
32	chr7:22395200-22395600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr7:22395200-22395600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
34	chr7:22395200-22395600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr7:22395200-22395600	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
36	chr7:22395200-22395800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:22395200-22395800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:22395200-22395800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:22395200-22395800	Bivalent Enhancer	Fetal Lung	lung
40	chr7:22395200-22396000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
41	chr7:22395200-22396000	Bivalent/Poised TSS	Adipose Nuclei	Adipose
42	chr7:22395200-22396200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:22395200-22396200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:22395200-22396200	Bivalent Enhancer	Fetal Brain Male	brain
45	chr7:22395200-22396200	Active TSS	Fetal Kidney	kidney
46	chr7:22395200-22396200	Flanking Active TSS	HMEC	breast
47	chr7:22395200-22396200	Flanking Active TSS	NHEK	skin
48	chr7:22395200-22396400	Active TSS	Right Ventricle	heart
49	chr7:22395200-22396800	Bivalent/Poised TSS	Small Intestine	intestine
50	chr7:22395200-22397000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links