Variant report

Variant	esv3419507
Chromosome Location	chr17:45500407-45506076
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:148)
CpG islands
(count:366)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:148 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:45505316-45506040	HepG2	liver:	n/a	n/a
2	BCL11A	chr17:45504891-45505246	GM12878	blood:	n/a	n/a
3	CEBPB	chr17:45505310-45505563	HepG2	liver:	n/a	n/a
4	CTCF	chr17:45501180-45501330	SAEC	small airway:	n/a	n/a
5	CTCF	chr17:45501084-45501184	MCF-7	breast:	n/a	n/a
6	CTCF	chr17:45501124-45501145	GM12891	blood:	n/a	n/a
7	CTCF	chr17:45501140-45501290	HEK293	kidney:	n/a	n/a
8	CTCF	chr17:45501040-45501190	GM12874	blood:	n/a	n/a
9	CTCF	chr17:45500980-45501130	GM12865	blood:	n/a	n/a
10	CTCF	chr17:45503813-45503939	Spleen_OC	spleen:	n/a	n/a
11	CTCF	chr17:45501099-45501153	A549	lung:	n/a	n/a
12	CTCF	chr17:45501040-45501190	GM12868	blood:	n/a	n/a
13	CTCF	chr17:45501060-45501210	GM12872	blood:	n/a	n/a
14	CTCF	chr17:45501060-45501210	GM12871	blood:	n/a	n/a
15	CTCF	chr17:45501628-45501635	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr17:45500854-45500948	MCF-7	breast:	n/a	n/a
17	CTCF	chr17:45501240-45501390	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr17:45501146-45501167	GM12891	blood:	n/a	n/a
19	CTCF	chr17:45501099-45501101	GM12891	blood:	n/a	n/a
20	CTCF	chr17:45501075-45501150	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr17:45501637-45501674	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr17:45500839-45500928	MCF-7	breast:	n/a	n/a
23	E2F6	chr17:45500802-45501058	H1-hESC	embryonic stem cell:	n/a	chr17:45501023-45501032
24	EBF1	chr17:45503258-45503545	GM12878	blood:	n/a	n/a
25	EBF1	chr17:45500733-45501013	GM12878	blood:	n/a	n/a
26	FOS	chr17:45504969-45505211	MCF10A-Er-Src	breast:	n/a	n/a
27	FOXA1	chr17:45505472-45505843	HepG2	liver:	n/a	chr17:45505656-45505671
28	FOXA1	chr17:45505163-45506137	HepG2	liver:	n/a	chr17:45505656-45505671
29	FOXA1	chr17:45505310-45506043	HepG2	liver:	n/a	chr17:45505656-45505671
30	FOXA1	chr17:45500763-45500919	T-47D	breast:	n/a	n/a
31	FOXA1	chr17:45505368-45506017	HepG2	liver:	n/a	chr17:45505656-45505671
32	FOXA2	chr17:45505301-45505999	HepG2	liver:	n/a	n/a
33	FOXA2	chr17:45505378-45505900	A549	lung:	n/a	n/a
34	FOXA2	chr17:45505038-45505955	HepG2	liver:	n/a	n/a
35	GABPA	chr17:45500842-45501252	H1-hESC	embryonic stem cell:	n/a	chr17:45501079-45501088 chr17:45501027-45501036 chr17:45501020-45501029 chr17:45500971-45500980
36	GABPA	chr17:45500782-45501494	H1-hESC	embryonic stem cell:	n/a	chr17:45501079-45501088 chr17:45501027-45501036 chr17:45501020-45501029 chr17:45500971-45500980
37	GTF2F1	chr17:45500870-45500977	H1-hESC	embryonic stem cell:	n/a	n/a
38	HA-E2F1	chr17:45500539-45501209	MCF-7	breast:	n/a	chr17:45501023-45501032
39	HNF4A	chr17:45505239-45505773	HepG2	liver:	n/a	chr17:45505437-45505452 chr17:45505437-45505452 chr17:45505436-45505454 chr17:45505439-45505452 chr17:45505438-45505446 chr17:45505439-45505452
40	JUND	chr17:45504943-45505208	HepG2	liver:	n/a	chr17:45505091-45505102
41	MAX	chr17:45500802-45501066	A549	lung:	n/a	n/a
42	MAX	chr17:45500748-45501266	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAX	chr17:45500744-45501092	A549	lung:	n/a	n/a
44	MAX	chr17:45500678-45501079	H1-hESC	embryonic stem cell:	n/a	n/a
45	MXI1	chr17:45501022-45501025	H1-hESC	embryonic stem cell:	n/a	n/a
46	MYC	chr17:45501127-45501268	MCF-7	breast:	n/a	n/a
47	MYC	chr17:45500840-45500844	MCF-7	breast:	n/a	n/a
48	MYC	chr17:45501270-45501277	MCF-7	breast:	n/a	n/a
49	MYC	chr17:45500753-45501280	MCF-7	breast:	n/a	n/a
50	MYC	chr17:45500848-45500941	MCF-7	breast:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:45502151-45502201	SK-N-SH	brain:	n/a
2	chr17:45501628-45501678	HMEC	breast:	n/a
3	chr17:45505249-45505299	Jurkat	blood:	n/a
4	chr17:45501628-45501678	ovcar-3	ovarian:	n/a
5	chr17:45505249-45505299	GM12891	blood:	n/a
6	chr17:45501030-45501080	SK-N-MC	brain:	n/a
7	chr17:45501628-45501678	AG09319	gingival:	n/a
8	chr17:45501697-45501747	PANC-1	pancreas:	n/a
9	chr17:45501628-45501678	AG09309	skin:	n/a
10	chr17:45501030-45501080	NT2-D1	testis:	n/a
11	chr17:45502151-45502201	BE2_C	brain:	n/a
12	chr17:45505249-45505299	AoSMC	blood vessel:	n/a
13	chr17:45505249-45505299	AG09319	gingival:	n/a
14	chr17:45505249-45505299	SK-N-MC	brain:	n/a
15	chr17:45501697-45501747	AoSMC	blood vessel:	n/a
16	chr17:45505249-45505299	ECC-1	luminal epithelium:	n/a
17	chr17:45501697-45501747	T-47D	breast:	n/a
18	chr17:45501697-45501747	SAEC	small airway:	n/a
19	chr17:45501628-45501678	Jurkat	blood:	n/a
20	chr17:45501030-45501080	GM19239	blood:	n/a
21	chr17:45501628-45501678	HAEpiC	amniotic membrane:	n/a
22	chr17:45502151-45502201	GM12892	blood:	n/a
23	chr17:45501242-45501292	Hela-S3	cervix:	n/a
24	chr17:45502151-45502201	AG04450	lung:	fetal
25	chr17:45502151-45502201	HCPEpiC	choroid plexus:	n/a
26	chr17:45501628-45501678	ECC-1	luminal epithelium:	n/a
27	chr17:45501030-45501080	AG09319	gingival:	n/a
28	chr17:45505249-45505299	K562	blood:	n/a
29	chr17:45501242-45501292	H1-hESC	embryonic stem cell:	embryo
30	chr17:45501030-45501080	GM12891	blood:	n/a
31	chr17:45501697-45501747	HRPEpiC	eye:	n/a
32	chr17:45505249-45505299	GM12892	blood:	n/a
33	chr17:45501030-45501080	T-47D	breast:	n/a
34	chr17:45501628-45501678	AG04449	skin:	fetal
35	chr17:45501628-45501678	T-47D	breast:	n/a
36	chr17:45501030-45501080	H1-hESC	embryonic stem cell:	embryo
37	chr17:45505249-45505299	SKMC	muscle:	n/a
38	chr17:45501242-45501292	HCT-116	colon:	n/a
39	chr17:45505249-45505299	PrEC	prostate:	n/a
40	chr17:45501242-45501292	AG10803	skin:	n/a
41	chr17:45501242-45501292	PANC-1	pancreas:	n/a
42	chr17:45502151-45502201	AG10803	skin:	n/a
43	chr17:45505249-45505299	HCT-116	colon:	n/a
44	chr17:45501697-45501747	BE2_C	brain:	n/a
45	chr17:45501628-45501678	SAEC	small airway:	n/a
46	chr17:45505249-45505299	RPTEC	kidney:	n/a
47	chr17:45502151-45502201	Caco-2	colon:	n/a
48	chr17:45502151-45502201	T-47D	breast:	n/a
49	chr17:45501242-45501292	HMEC	breast:	n/a
50	chr17:45501697-45501747	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45499733..45501782-chr17:45502052..45504438,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC040934.1-1	chr17:45500728-45500892	ENSG00000253347.1

No data

Variant related genes	Relation type
ENSG00000253347	TF binding region
ENSG00000253347	CpG island
ENSG00000253347	chromatin interactions

Extended variants
information (count: 162 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561256158	chr17:45500421-45500422	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs569823329	chr17:45500477-45500478	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs77888146	chr17:45500561-45500562	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs543755535	chr17:45500585-45500586	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs28530506	chr17:45500615-45500616	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs73324458	chr17:45500627-45500628	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs563627255	chr17:45500647-45500648	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs193227861	chr17:45500678-45500679	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200951574	chr17:45500705-45500706	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564943976	chr17:45500731-45500732	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs183954420	chr17:45500777-45500778	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs547459821	chr17:45500847-45500848	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
13	rs567150158	chr17:45500861-45500862	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
14	rs530033995	chr17:45500885-45500886	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	lncRNA	n/a	Overlapped CNVs	n/a
15	rs549793204	chr17:45500899-45500900	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs569849420	chr17:45500950-45500951	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs538428033	chr17:45500974-45500975	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs558630646	chr17:45500987-45500988	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs565795242	chr17:45501074-45501075	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs534784349	chr17:45501087-45501088	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs554590666	chr17:45501107-45501108	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs113400081	chr17:45501117-45501118	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs554846930	chr17:45501168-45501169	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs574718305	chr17:45501283-45501284	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs61544640	chr17:45501307-45501308	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs544128479	chr17:45501345-45501346	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs112357035	chr17:45501358-45501359	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs557334105	chr17:45501431-45501432	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs371207083	chr17:45501445-45501446	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs112584090	chr17:45501514-45501515	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs577388848	chr17:45501537-45501538	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs530846506	chr17:45501571-45501572	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs188609436	chr17:45501619-45501620	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs527432368	chr17:45501655-45501656	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs552463570	chr17:45501694-45501695	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs541108536	chr17:45501805-45501806	Bivalent/Poised TSS Weak transcription Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs9909843	chr17:45501809-45501810	Bivalent/Poised TSS Weak transcription Strong transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs184158651	chr17:45501812-45501813	Bivalent/Poised TSS Weak transcription Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs550072542	chr17:45501844-45501845	Bivalent/Poised TSS Weak transcription Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs112248488	chr17:45501859-45501860	Bivalent/Poised TSS Weak transcription Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs79257620	chr17:45501862-45501863	Bivalent/Poised TSS Weak transcription Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs139250546	chr17:45501868-45501869	Bivalent/Poised TSS Weak transcription Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs188836772	chr17:45501900-45501901	Bivalent/Poised TSS Weak transcription Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs375400790	chr17:45501960-45501961	Bivalent/Poised TSS Weak transcription Strong transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs3826536	chr17:45501967-45501968	Bivalent/Poised TSS Weak transcription Strong transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs138264090	chr17:45502026-45502027	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs112570832	chr17:45502054-45502055	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs547117381	chr17:45502081-45502082	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs9908049	chr17:45502096-45502097	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs376447789	chr17:45502164-45502165	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	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
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Autism	22817714	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:312 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45402200-45500800	Weak transcription	Aorta	Aorta
2	chr17:45461600-45500600	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr17:45461600-45500600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr17:45472200-45500600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr17:45490800-45502400	Weak transcription	HepG2	liver
6	chr17:45491400-45500600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr17:45494200-45500600	Weak transcription	Ovary	ovary
8	chr17:45496600-45500600	Weak transcription	NH-A	brain
9	chr17:45500200-45500600	Bivalent Enhancer	Adipose Nuclei	Adipose
10	chr17:45500200-45500600	Enhancers	Duodenum Mucosa	Duodenum
11	chr17:45500200-45500600	Flanking Active TSS	A549	lung
12	chr17:45500200-45501200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr17:45500200-45501400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr17:45500400-45500600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
15	chr17:45500400-45500600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr17:45500400-45500600	Enhancers	Primary B cells from peripheral blood	blood
17	chr17:45500400-45500600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr17:45500400-45500600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:45500400-45500600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr17:45500400-45500600	Enhancers	Liver	Liver
21	chr17:45500400-45500600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
22	chr17:45500400-45500600	Flanking Active TSS	Fetal Intestine Large	intestine
23	chr17:45500400-45500600	Weak transcription	Fetal Intestine Small	intestine
24	chr17:45500400-45500600	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr17:45500400-45500600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
26	chr17:45500400-45500800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
27	chr17:45500400-45500800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
28	chr17:45500400-45500800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr17:45500400-45500800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr17:45500400-45500800	Active TSS	HMEC	breast
31	chr17:45500400-45500800	Flanking Active TSS	HUVEC	blood vessel
32	chr17:45500400-45501400	Active TSS	GM12878-XiMat	blood
33	chr17:45500400-45501600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr17:45500400-45501800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr17:45500400-45501800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr17:45500400-45501800	Active TSS	Brain Angular Gyrus	brain
37	chr17:45500400-45501800	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr17:45500400-45502000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr17:45500400-45502000	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr17:45500600-45500800	Active TSS	H1 Cell Line	embryonic stem cell
41	chr17:45500600-45500800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr17:45500600-45500800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
43	chr17:45500600-45500800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr17:45500600-45500800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr17:45500600-45500800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
46	chr17:45500600-45500800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr17:45500600-45500800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr17:45500600-45500800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr17:45500600-45500800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr17:45500600-45500800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links