Variant report

Variant	esv3327832
Chromosome Location	chr5:179779171-179781719
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:168)
CpG islands
(count:671)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:168 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr5:179779932-179780969	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr5:179779393-179779698	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr5:179781289-179781456	H1-hESC	embryonic stem cell:	n/a	n/a
4	CCNT2	chr5:179779882-179780557	K562	blood:	n/a	n/a
5	CEBPB	chr5:179781371-179781794	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr5:179780557-179780688	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD1	chr5:179778983-179779395	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD1	chr5:179781283-179781444	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr5:179780278-179780586	Hela-S3	cervix:	n/a	n/a
10	CHD2	chr5:179779555-179779587	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr5:179780289-179780553	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr5:179780541-179780552	K562	blood:	n/a	n/a
13	CHD2	chr5:179779522-179779523	Hela-S3	cervix:	n/a	n/a
14	CREB1	chr5:179780294-179780718	A549	lung:	n/a	n/a
15	CTBP2	chr5:179780115-179780912	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr5:179779480-179779630	AoAF	blood vessel:	n/a	n/a
17	CTCF	chr5:179779320-179779470	HCM	heart:	n/a	n/a
18	CTCF	chr5:179779520-179779670	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr5:179779460-179779610	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr5:179779520-179779670	HRPEpiC	eye:	n/a	n/a
21	CTCF	chr5:179779440-179779590	AG10803	skin:	n/a	n/a
22	CTCF	chr5:179779500-179779650	AG04450	lung:	n/a	n/a
23	CTCF	chr5:179779560-179779710	AG09309	skin:	n/a	n/a
24	CTCF	chr5:179779440-179779590	NHEK	skin:	n/a	n/a
25	CTCF	chr5:179779460-179779610	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr5:179779440-179779590	AG09309	skin:	n/a	n/a
27	CTCF	chr5:179779460-179779610	HPAF	blood vessel:	n/a	n/a
28	CTCF	chr5:179779500-179779650	AG09319	gingival:	n/a	n/a
29	CTCF	chr5:179780720-179780870	SAEC	small airway:	n/a	n/a
30	CTCF	chr5:179779520-179779670	HCFaa	heart:	n/a	n/a
31	CTCF	chr5:179779436-179779683	IMR90	lung:	n/a	n/a
32	CTCF	chr5:179779380-179779530	NHDF-neo	bronchial:	n/a	n/a
33	CTCF	chr5:179779460-179779610	HMF	breast:	n/a	n/a
34	CTCF	chr5:179779520-179779670	HCM	heart:	n/a	n/a
35	CTCF	chr5:179779520-179779670	AG04450	lung:	n/a	n/a
36	CTCF	chr5:179779500-179779650	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr5:179779520-179779670	HRE	kidney:	n/a	n/a
38	CTCF	chr5:179779520-179779670	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr5:179779140-179779290	AG04449	skin:	n/a	n/a
40	CTCF	chr5:179780060-179780290	AG04449	skin:	n/a	chr5:179780119-179780132
41	CTCF	chr5:179779440-179779590	BJ	skin:	n/a	n/a
42	CTCF	chr5:179780520-179780670	Caco-2	colon:	n/a	n/a
43	CTCF	chr5:179779460-179779610	HAc	cerebellar:	n/a	n/a
44	CTCF	chr5:179779500-179779650	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr5:179779040-179779190	HAc	cerebellar:	n/a	n/a
46	CTCF	chr5:179779440-179779590	AG04449	skin:	n/a	n/a
47	CTCF	chr5:179779520-179779670	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr5:179779520-179779670	HA-sp	spinal cord:	n/a	n/a
49	CTCF	chr5:179779537-179779595	Hela-S3	cervix:	n/a	n/a
50	E2F4	chr5:179780964-179781001	MCF10A-Er-Src	breast:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179779205-179779255	AG04449	skin:	fetal
2	chr5:179780314-179780364	ovcar-3	ovarian:	n/a
3	chr5:179781547-179781597	Jurkat	blood:	n/a
4	chr5:179779123-179779173	HCM	heart:	n/a
5	chr5:179780409-179780459	MCF10A-Er-Src	breast:	n/a
6	chr5:179779237-179779287	HepG2	liver:	n/a
7	chr5:179780409-179780459	SK-N-SH_RA	brain:	n/a
8	chr5:179780563-179780613	NHDF-neo	bronchial:	n/a
9	chr5:179780563-179780613	U87	brain:	n/a
10	chr5:179781547-179781597	Caco-2	colon:	n/a
11	chr5:179780802-179780852	K562	blood:	n/a
12	chr5:179780802-179780852	AG09319	gingival:	n/a
13	chr5:179781245-179781295	H1-hESC	embryonic stem cell:	embryo
14	chr5:179779205-179779255	HPAEpiC	pulmonary alveolar:	n/a
15	chr5:179780314-179780364	HIPEpiC	eye:	n/a
16	chr5:179781245-179781295	Hela-S3	cervix:	n/a
17	chr5:179779205-179779255	AG09309	skin:	n/a
18	chr5:179779205-179779255	HAEpiC	amniotic membrane:	n/a
19	chr5:179779237-179779287	MCF-7	breast:	n/a
20	chr5:179780563-179780613	GM19239	blood:	n/a
21	chr5:179780802-179780852	AoSMC	blood vessel:	n/a
22	chr5:179781245-179781295	HCF	heart:	n/a
23	chr5:179779954-179780004	U87	brain:	n/a
24	chr5:179781547-179781597	SK-N-SH_RA	brain:	n/a
25	chr5:179779123-179779173	CMK	blood:	n/a
26	chr5:179780563-179780613	IMR90	lung:	fetal
27	chr5:179780409-179780459	Hepatocyte	liver:	n/a
28	chr5:179779123-179779173	BJ	skin:	n/a
29	chr5:179780314-179780364	Hela-S3	cervix:	n/a
30	chr5:179781547-179781597	PANC-1	pancreas:	n/a
31	chr5:179779123-179779173	H1-hESC	embryonic stem cell:	embryo
32	chr5:179781245-179781295	HNPCEpiC	eye:	n/a
33	chr5:179781547-179781597	GM19239	blood:	n/a
34	chr5:179779664-179779714	MCF10A-Er-Src	breast:	n/a
35	chr5:179780563-179780613	HepG2	liver:	n/a
36	chr5:179779664-179779714	NT2-D1	testis:	n/a
37	chr5:179779664-179779714	HL-60	blood:	n/a
38	chr5:179781547-179781597	AG09319	gingival:	n/a
39	chr5:179779123-179779173	SKMC	muscle:	n/a
40	chr5:179780802-179780852	NT2-D1	testis:	n/a
41	chr5:179781547-179781597	NB4	blood:	n/a
42	chr5:179779123-179779173	NB4	blood:	n/a
43	chr5:179779664-179779714	H1-hESC	embryonic stem cell:	embryo
44	chr5:179779205-179779255	NT2-D1	testis:	n/a
45	chr5:179781547-179781597	GM12892	blood:	n/a
46	chr5:179780802-179780852	CMK	blood:	n/a
47	chr5:179781245-179781295	RPTEC	kidney:	n/a
48	chr5:179780802-179780852	SK-N-SH	brain:	n/a
49	chr5:179779205-179779255	K562	blood:	n/a
50	chr5:179779954-179780004	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr5:179758118..179760214-chr5:179779421..179781494,2	MCF-7	breast:
2	chr5:179780821..179782818-chr5:179787317..179788997,2	K562	blood:
3	chr5:179778332..179781251-chr5:179920436..179923318,3	MCF-7	breast:

No data

Variant related genes	Relation type
GFPT2	TF binding region
GFPT2	CpG island
ENSG00000113300	chromatin interactions
ENSG00000131459	chromatin interactions

Extended variants
information (count: 114 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576658452	chr5:179779198-179779199	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs144721677	chr5:179779206-179779207	Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560864862	chr5:179779229-179779230	Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs75185172	chr5:179779338-179779339	Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs34831746	chr5:179779339-179779340	Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs76958641	chr5:179779340-179779341	Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs562019290	chr5:179779341-179779342	Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs79540720	chr5:179779342-179779343	Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574526059	chr5:179779349-179779350	Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs76878532	chr5:179779356-179779357	Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs55773839	chr5:179779359-179779360	Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs13171554	chr5:179779397-179779398	Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs540291072	chr5:179779401-179779402	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560294524	chr5:179779434-179779435	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs532182378	chr5:179779436-179779437	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs552366978	chr5:179779462-179779463	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs562579600	chr5:179779506-179779507	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs531628490	chr5:179779588-179779589	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs4627952	chr5:179779607-179779608	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs568071481	chr5:179779623-179779624	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs571093096	chr5:179779629-179779630	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs533933735	chr5:179779760-179779761	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs547456462	chr5:179779821-179779822	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs570940064	chr5:179779856-179779857	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs539582756	chr5:179779882-179779883	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs556695338	chr5:179779885-179779886	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs576607216	chr5:179779896-179779897	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs536147778	chr5:179779902-179779903	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs535503574	chr5:179779903-179779904	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs574440693	chr5:179779905-179779906	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs540257011	chr5:179779929-179779930	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs147903060	chr5:179779947-179779948	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs576860000	chr5:179779952-179779953	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs545624638	chr5:179779974-179779975	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs562692557	chr5:179780002-179780003	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs374898350	chr5:179780004-179780005	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs531413829	chr5:179780054-179780055	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs541673631	chr5:179780079-179780080	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs555506371	chr5:179780104-179780105	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs527644678	chr5:179780133-179780134	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs547370885	chr5:179780134-179780135	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs570784614	chr5:179780143-179780144	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs533463993	chr5:179780168-179780169	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs550048415	chr5:179780173-179780174	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs374362463	chr5:179780177-179780178	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs535233266	chr5:179780179-179780180	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs376990165	chr5:179780181-179780182	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs566246829	chr5:179780250-179780251	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs536060057	chr5:179780258-179780259	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs556069642	chr5:179780271-179780272	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	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
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD

Chromatin state (count:467 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179772600-179779200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:179777000-179779200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
3	chr5:179777000-179779200	Bivalent Enhancer	Placenta	Placenta
4	chr5:179777600-179779600	Active TSS	Right Ventricle	heart
5	chr5:179777800-179779400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:179777800-179779400	Bivalent Enhancer	HUVEC	blood vessel
7	chr5:179777800-179780600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr5:179777800-179781800	Enhancers	Fetal Heart	heart
9	chr5:179778000-179781400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:179778200-179779200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
11	chr5:179778200-179779200	Flanking Active TSS	NH-A	brain
12	chr5:179778200-179779600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:179778200-179780600	Active TSS	Colon Smooth Muscle	Colon
14	chr5:179778400-179779200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:179778400-179779200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr5:179778400-179779200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr5:179778400-179779400	Flanking Active TSS	Osteobl	bone
18	chr5:179778400-179780600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:179778400-179780600	Bivalent Enhancer	Fetal Brain Male	brain
20	chr5:179778600-179779200	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:179778600-179779200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:179778600-179779200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr5:179778600-179779200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:179778600-179779200	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr5:179778600-179779200	Flanking Active TSS	Brain Cingulate Gyrus	brain
26	chr5:179778600-179779200	Flanking Active TSS	A549	lung
27	chr5:179778600-179779200	Flanking Active TSS	Hela-S3	cervix
28	chr5:179778600-179779200	Flanking Active TSS	HSMM	muscle
29	chr5:179778600-179779400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:179778600-179779400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr5:179778600-179779400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
32	chr5:179778600-179779400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
33	chr5:179778600-179779600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:179778600-179779600	Bivalent/Poised TSS	Placenta Amnion	Placenta Amnion
35	chr5:179778600-179780200	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr5:179778600-179780200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
37	chr5:179778600-179780600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:179778800-179779200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:179778800-179779200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr5:179778800-179779200	Bivalent Enhancer	Liver	Liver
41	chr5:179778800-179779200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr5:179778800-179779200	Flanking Active TSS	Ovary	ovary
43	chr5:179778800-179779200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
44	chr5:179778800-179779200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
45	chr5:179778800-179779200	Flanking Active TSS	HSMMtube	muscle
46	chr5:179778800-179779400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:179778800-179779400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:179778800-179779400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:179778800-179779400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
50	chr5:179778800-179779400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links