Variant report

Variant	esv3398287
Chromosome Location	chr1:10056590-10059138
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:855)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:10056884-10057287	H1-hESC	embryonic stem cell:	n/a	n/a
2	CBX3	chr1:10059038-10059333	K562	blood:	n/a	n/a
3	CBX3	chr1:10058899-10059401	K562	blood:	n/a	n/a
4	CHD1	chr1:10057360-10057361	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr1:10056480-10056630	HBMEC	blood vessel:	n/a	n/a
6	CTCF	chr1:10056460-10056610	HAc	cerebellar:	n/a	n/a
7	CTCF	chr1:10057000-10057150	HepG2	liver:	n/a	n/a
8	E2F6	chr1:10057839-10058200	H1-hESC	embryonic stem cell:	n/a	chr1:10058074-10058086
9	E2F6	chr1:10057078-10057283	K562	blood:	n/a	n/a
10	E2F6	chr1:10057008-10057741	H1-hESC	embryonic stem cell:	n/a	chr1:10057406-10057416
11	E2F6	chr1:10057166-10057634	H1-hESC	embryonic stem cell:	n/a	chr1:10057406-10057416
12	E2F6	chr1:10057203-10057610	A549	lung:	n/a	chr1:10057406-10057416
13	E2F6	chr1:10057834-10058276	A549	lung:	n/a	chr1:10058074-10058086
14	E2F6	chr1:10057843-10058286	H1-hESC	embryonic stem cell:	n/a	chr1:10058074-10058086
15	EBF1	chr1:10058903-10059268	GM12878	blood:	n/a	n/a
16	EBF1	chr1:10058953-10059241	GM12878	blood:	n/a	n/a
17	EBF1	chr1:10058926-10059243	GM12878	blood:	n/a	n/a
18	GABPA	chr1:10057261-10057554	H1-hESC	embryonic stem cell:	n/a	n/a
19	GABPA	chr1:10057780-10058095	H1-hESC	embryonic stem cell:	n/a	n/a
20	KAP1	chr1:10058991-10059290	K562	blood:	n/a	n/a
21	MAX	chr1:10057786-10058294	ECC-1	luminal epithelium:	n/a	n/a
22	MAX	chr1:10056892-10058253	ECC-1	luminal epithelium:	n/a	chr1:10057726-10057735
23	MAX	chr1:10059082-10059366	K562	blood:	n/a	n/a
24	MAX	chr1:10057206-10057612	A549	lung:	n/a	n/a
25	MAX	chr1:10056825-10057668	ECC-1	luminal epithelium:	n/a	n/a
26	MAX	chr1:10058018-10058065	HepG2	liver:	n/a	n/a
27	MAX	chr1:10057135-10057596	HepG2	liver:	n/a	n/a
28	MAX	chr1:10057135-10057830	H1-hESC	embryonic stem cell:	n/a	chr1:10057726-10057735
29	MAX	chr1:10059129-10059289	K562	blood:	n/a	n/a
30	MAX	chr1:10056934-10058254	H1-hESC	embryonic stem cell:	n/a	chr1:10057726-10057735
31	MAX	chr1:10057273-10057472	HepG2	liver:	n/a	n/a
32	MYC	chr1:10057167-10057179	MCF-7	breast:	n/a	n/a
33	POLR2A	chr1:10057001-10057507	HCT-116	colon:	n/a	n/a
34	POLR2A	chr1:10057819-10057907	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr1:10057284-10057401	MCF-7	breast:	n/a	n/a
36	POLR2A	chr1:10057112-10057564	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr1:10057140-10057452	HCT-116	colon:	n/a	n/a
38	POLR2A	chr1:10057098-10057576	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr1:10058967-10059021	HUVEC	blood vessel:	n/a	n/a
40	SETDB1	chr1:10058955-10059302	U2OS	brain:	n/a	n/a
41	SIN3A	chr1:10057332-10057455	H1-hESC	embryonic stem cell:	n/a	n/a
42	SPI1	chr1:10056853-10057229	HL-60	blood:	n/a	chr1:10057091-10057098
43	TAF1	chr1:10057122-10057595	ECC-1	luminal epithelium:	n/a	n/a
44	TBP	chr1:10057946-10058129	H1-hESC	embryonic stem cell:	n/a	n/a
45	TCF12	chr1:10057248-10057659	ECC-1	luminal epithelium:	n/a	chr1:10057498-10057508
46	YY1	chr1:10057857-10058112	HepG2	liver:	n/a	n/a
47	ZBTB7A	chr1:10056938-10058139	ECC-1	luminal epithelium:	n/a	chr1:10057503-10057514 chr1:10058058-10058066
48	ZBTB7A	chr1:10057031-10058116	ECC-1	luminal epithelium:	n/a	chr1:10057503-10057514 chr1:10058058-10058066
49	ZNF143	chr1:10057827-10058071	H1-hESC	embryonic stem cell:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:10056837-10056887	AG09309	skin:	n/a
2	chr1:10056837-10056887	AG09309	skin:	n/a
3	chr1:10057312-10057362	NHDF-neo	bronchial:	n/a
4	chr1:10058068-10058118	MCF-7	breast:	n/a
5	chr1:10057700-10057750	HEK293	kidney:	embryo
6	chr1:10057312-10057362	HEEpiC	esophagus:	n/a
7	chr1:10057158-10057208	A549	lung:	n/a
8	chr1:10058340-10058390	HRPEpiC	eye:	n/a
9	chr1:10057158-10057208	HUVEC	blood vessel:	n/a
10	chr1:10057158-10057208	ECC-1	luminal epithelium:	n/a
11	chr1:10056957-10057007	GM19239	blood:	n/a
12	chr1:10056957-10057007	ovcar-3	ovarian:	n/a
13	chr1:10058068-10058118	PANC-1	pancreas:	n/a
14	chr1:10056853-10056903	Caco-2	colon:	n/a
15	chr1:10058340-10058390	HRE	kidney:	n/a
16	chr1:10057970-10058020	HEK293	kidney:	embryo
17	chr1:10057158-10057208	Jurkat	blood:	n/a
18	chr1:10057168-10057218	NHDF-neo	bronchial:	n/a
19	chr1:10057303-10057353	PFSK-1	brain:	n/a
20	chr1:10056853-10056903	SKMC	muscle:	n/a
21	chr1:10058340-10058390	GM12878	blood:	n/a
22	chr1:10058340-10058390	NB4	blood:	n/a
23	chr1:10058068-10058118	HEEpiC	esophagus:	n/a
24	chr1:10057970-10058020	HEEpiC	esophagus:	n/a
25	chr1:10057303-10057353	HRPEpiC	eye:	n/a
26	chr1:10057059-10057109	Hepatocyte	liver:	n/a
27	chr1:10056846-10056896	Caco-2	colon:	n/a
28	chr1:10058068-10058118	RPTEC	kidney:	n/a
29	chr1:10058340-10058390	Caco-2	colon:	n/a
30	chr1:10056957-10057007	Jurkat	blood:	n/a
31	chr1:10057059-10057109	BJ	skin:	n/a
32	chr1:10057168-10057218	HIPEpiC	eye:	n/a
33	chr1:10057305-10057355	H1-hESC	embryonic stem cell:	embryo
34	chr1:10057700-10057750	HCM	heart:	n/a
35	chr1:10057059-10057109	CMK	blood:	n/a
36	chr1:10057059-10057109	HepG2	liver:	n/a
37	chr1:10057700-10057750	SK-N-SH_RA	brain:	n/a
38	chr1:10057970-10058020	IMR90	lung:	fetal
39	chr1:10056957-10057007	Caco-2	colon:	n/a
40	chr1:10058068-10058118	AG09309	skin:	n/a
41	chr1:10058068-10058118	HPAEpiC	pulmonary alveolar:	n/a
42	chr1:10057312-10057362	MCF10A-Er-Src	breast:	n/a
43	chr1:10057312-10057362	PANC-1	pancreas:	n/a
44	chr1:10056957-10057007	T-47D	breast:	n/a
45	chr1:10056957-10057007	HCT-116	colon:	n/a
46	chr1:10058340-10058390	HL-60	blood:	n/a
47	chr1:10057158-10057208	BE2_C	brain:	n/a
48	chr1:10057700-10057750	RPTEC	kidney:	n/a
49	chr1:10056853-10056903	IMR90	lung:	fetal
50	chr1:10057168-10057218	AG04449	skin:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10056745..10057479-chr4:1283519..1284439,2	HCT-116	colon:

No data

Variant related genes	Relation type
RBP7	TF binding region
RBP7	CpG island
ENSG00000090316	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192471888	chr1:10056609-10056610	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs530696450	chr1:10056650-10056651	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72859558	chr1:10056700-10056701	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs113677869	chr1:10056759-10056760	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs184645815	chr1:10056793-10056794	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs532747212	chr1:10056818-10056819	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs551491154	chr1:10056830-10056831	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs189032912	chr1:10056838-10056839	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs547872094	chr1:10056840-10056841	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs149394761	chr1:10056841-10056842	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs536262637	chr1:10056905-10056906	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs75694755	chr1:10056910-10056911	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs77531287	chr1:10056977-10056978	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs537230466	chr1:10057038-10057039	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs558924877	chr1:10057059-10057060	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs6688984	chr1:10057126-10057127	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs534375391	chr1:10057156-10057157	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs373458663	chr1:10057169-10057170	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs112436632	chr1:10057202-10057203	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs3811458	chr1:10057203-10057204	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs574454810	chr1:10057205-10057206	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs541868511	chr1:10057268-10057269	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs111277407	chr1:10057305-10057306	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs144457958	chr1:10057328-10057329	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs545971070	chr1:10057335-10057336	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs377469853	chr1:10057368-10057369	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs371179703	chr1:10057389-10057390	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs112770895	chr1:10057422-10057423	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs528296318	chr1:10057448-10057449	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs547538287	chr1:10057488-10057489	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs559439280	chr1:10057526-10057527	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs11121512	chr1:10057657-10057658	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs6680076	chr1:10057670-10057671	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs11121513	chr1:10057706-10057707	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs12759809	chr1:10057740-10057741	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112244233	chr1:10057822-10057823	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552839197	chr1:10057826-10057827	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570917197	chr1:10057828-10057829	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535237052	chr1:10057829-10057830	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552765809	chr1:10057904-10057905	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6697566	chr1:10057935-10057936	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535429397	chr1:10057983-10057984	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116424714	chr1:10058034-10058035	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147177585	chr1:10058062-10058063	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6664631	chr1:10058104-10058105	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs564418577	chr1:10058125-10058126	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140296069	chr1:10058151-10058152	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540448939	chr1:10058160-10058161	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181307297	chr1:10058170-10058171	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534350085	chr1:10058175-10058176	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	20406844	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	19638189	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10032800-10057000	Weak transcription	Psoas Muscle	Psoas
2	chr1:10042800-10056600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:10042800-10057200	Weak transcription	Gastric	stomach
4	chr1:10045400-10056600	Weak transcription	Brain Angular Gyrus	brain
5	chr1:10045400-10057000	Weak transcription	Brain Substantia Nigra	brain
6	chr1:10045600-10056600	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:10045600-10056600	Weak transcription	Fetal Heart	heart
8	chr1:10046200-10057000	Weak transcription	Ovary	ovary
9	chr1:10050800-10056600	Weak transcription	Right Ventricle	heart
10	chr1:10051600-10056600	Weak transcription	Placenta	Placenta
11	chr1:10051800-10056800	Weak transcription	Liver	Liver
12	chr1:10052600-10057000	Weak transcription	Left Ventricle	heart
13	chr1:10053200-10057400	Weak transcription	Spleen	Spleen
14	chr1:10054000-10056800	Weak transcription	Right Atrium	heart
15	chr1:10056400-10056800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
16	chr1:10056400-10056800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
17	chr1:10056400-10057000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
18	chr1:10056600-10056800	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
19	chr1:10056600-10056800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:10056600-10056800	Enhancers	Fetal Heart	heart
21	chr1:10056600-10056800	Bivalent Enhancer	Fetal Intestine Small	intestine
22	chr1:10056600-10056800	Bivalent Enhancer	HepG2	liver
23	chr1:10056600-10057000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
24	chr1:10056600-10057000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
25	chr1:10056600-10057000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
26	chr1:10056600-10057000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
27	chr1:10056600-10057000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
28	chr1:10056600-10057000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
29	chr1:10056600-10057000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:10056600-10057000	Enhancers	Brain Hippocampus Middle	brain
31	chr1:10056600-10057000	Enhancers	Esophagus	oesophagus
32	chr1:10056600-10057000	Enhancers	Right Ventricle	heart
33	chr1:10056600-10057200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr1:10056600-10057200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr1:10056600-10057200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
36	chr1:10056600-10057200	Enhancers	Placenta	Placenta
37	chr1:10056600-10057200	Bivalent Enhancer	HUVEC	blood vessel
38	chr1:10056600-10057200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
39	chr1:10056600-10057400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
40	chr1:10056600-10057400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
41	chr1:10056600-10057400	Enhancers	Brain Angular Gyrus	brain
42	chr1:10056600-10057600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:10056600-10058400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr1:10056800-10057000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:10056800-10057000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:10056800-10057000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
47	chr1:10056800-10057000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
48	chr1:10056800-10057000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:10056800-10057000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:10056800-10057000	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links