Variant report

Variant	esv3359354
Chromosome Location	chr5:16178477-16181525
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:138)
CpG islands
(count:1221)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:138 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:16178853-16179248	H1-hESC	embryonic stem cell:	n/a	n/a
2	CBX3	chr5:16178898-16179206	K562	blood:	n/a	n/a
3	CHD1	chr5:16178992-16179348	H1-hESC	embryonic stem cell:	n/a	chr5:16179097-16179107
4	CHD2	chr5:16178920-16179263	H1-hESC	embryonic stem cell:	n/a	chr5:16179097-16179107
5	CTBP2	chr5:16178961-16179519	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr5:16179260-16179410	BE2_C	brain:	n/a	n/a
7	CTCF	chr5:16179255-16179416	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr5:16179010-16179444	MCF-7	breast:	n/a	chr5:16179111-16179124
9	CTCF	chr5:16179020-16179170	HBMEC	blood vessel:	n/a	chr5:16179111-16179124
10	CTCF	chr5:16179292-16179401	Pancreas_OC	pancreas:	n/a	n/a
11	CTCF	chr5:16179240-16179390	WERI-Rb-1	eye:	n/a	n/a
12	CTCF	chr5:16178992-16179431	MCF-7	breast:	n/a	chr5:16179111-16179124
13	CTCF	chr5:16178981-16179121	Fibrobl	skin:	n/a	n/a
14	CTCF	chr5:16179016-16179460	MCF-7	breast:	n/a	chr5:16179111-16179124
15	CTCF	chr5:16179047-16179173	MCF-7	breast:	n/a	chr5:16179111-16179124
16	CTCF	chr5:16179280-16179430	MCF-7	breast:	n/a	n/a
17	CTCF	chr5:16179200-16179350	HRPEpiC	eye:	n/a	n/a
18	CTCF	chr5:16179760-16179910	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr5:16179258-16179441	LNCaP	prostate:	n/a	n/a
20	CTCF	chr5:16179240-16179390	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr5:16180120-16180270	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr5:16179200-16179350	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr5:16179300-16179450	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr5:16178940-16179090	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr5:16178980-16179130	SK-N-SH_RA	brain:	n/a	chr5:16179111-16179124
26	CTCF	chr5:16179176-16179184	MCF-7	breast:	n/a	n/a
27	CTCF	chr5:16179243-16179405	MCF-7	breast:	n/a	n/a
28	CTCF	chr5:16180080-16180230	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr5:16179032-16179108	MCF-7	breast:	n/a	n/a
30	E2F6	chr5:16180078-16180910	H1-hESC	embryonic stem cell:	n/a	chr5:16180114-16180124
31	EGR1	chr5:16178924-16179279	H1-hESC	embryonic stem cell:	n/a	n/a
32	EP300	chr5:16178862-16179409	H1-hESC	embryonic stem cell:	n/a	chr5:16178915-16178924
33	FOSL1	chr5:16178958-16179218	H1-hESC	embryonic stem cell:	n/a	n/a
34	FOXA1	chr5:16178974-16179183	T-47D	breast:	n/a	n/a
35	GABPA	chr5:16178922-16179438	H1-hESC	embryonic stem cell:	n/a	n/a
36	GATA3	chr5:16178936-16179278	T-47D	breast:	n/a	chr5:16178977-16178987
37	GATA3	chr5:16178988-16179323	MCF-7	breast:	n/a	n/a
38	GATA3	chr5:16178903-16179246	T-47D	breast:	n/a	chr5:16178977-16178987
39	HA-E2F1	chr5:16178836-16179359	MCF-7	breast:	n/a	n/a
40	HDAC2	chr5:16178902-16179432	MCF-7	breast:	n/a	chr5:16179067-16179086
41	HDAC2	chr5:16178909-16179270	MCF-7	breast:	n/a	chr5:16179067-16179086
42	HMGN3	chr5:16179054-16179215	K562	blood:	n/a	n/a
43	JUN	chr5:16178929-16179164	H1-hESC	embryonic stem cell:	n/a	n/a
44	JUND	chr5:16178676-16179219	H1-hESC	embryonic stem cell:	n/a	chr5:16178697-16178707
45	MAX	chr5:16178882-16179405	ECC-1	luminal epithelium:	n/a	n/a
46	MAX	chr5:16178834-16179371	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAX	chr5:16178911-16179199	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr5:16180271-16180820	H1-hESC	embryonic stem cell:	n/a	n/a
49	MAX	chr5:16178844-16179320	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAX	chr5:16178952-16179289	MCF-7	breast:	n/a	n/a

(count:1221 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:16180072-16180122	H1-hESC	embryonic stem cell:	embryo
2	chr5:16180072-16180122	H1-hESC	embryonic stem cell:	embryo
3	chr5:16180055-16180105	AG04449	skin:	fetal
4	chr5:16181039-16181089	Jurkat	blood:	n/a
5	chr5:16179210-16179260	GM12892	blood:	n/a
6	chr5:16180062-16180112	HRE	kidney:	n/a
7	chr5:16178784-16178834	K562	blood:	n/a
8	chr5:16180033-16180083	HCT-116	colon:	n/a
9	chr5:16180419-16180469	ProgFib	skin:	n/a
10	chr5:16178784-16178834	ECC-1	luminal epithelium:	n/a
11	chr5:16180048-16180098	RPTEC	kidney:	n/a
12	chr5:16179210-16179260	SKMC	muscle:	n/a
13	chr5:16180393-16180443	HUVEC	blood vessel:	n/a
14	chr5:16180033-16180083	K562	blood:	n/a
15	chr5:16180055-16180105	MCF-7	breast:	n/a
16	chr5:16180068-16180118	HIPEpiC	eye:	n/a
17	chr5:16179210-16179260	Hela-S3	cervix:	n/a
18	chr5:16181039-16181089	CMK	blood:	n/a
19	chr5:16180068-16180118	GM12892	blood:	n/a
20	chr5:16179633-16179683	HUVEC	blood vessel:	n/a
21	chr5:16180259-16180309	NHDF-neo	bronchial:	n/a
22	chr5:16179210-16179260	HUVEC	blood vessel:	n/a
23	chr5:16180068-16180118	HCT-116	colon:	n/a
24	chr5:16180072-16180122	AG09309	skin:	n/a
25	chr5:16180393-16180443	HL-60	blood:	n/a
26	chr5:16180393-16180443	PFSK-1	brain:	n/a
27	chr5:16181039-16181089	HEEpiC	esophagus:	n/a
28	chr5:16180072-16180122	NH-A	brain:	n/a
29	chr5:16180055-16180105	HCT-116	colon:	n/a
30	chr5:16180419-16180469	HCM	heart:	n/a
31	chr5:16179873-16179923	HCF	heart:	n/a
32	chr5:16180068-16180118	GM12891	blood:	n/a
33	chr5:16179012-16179062	Hela-S3	cervix:	n/a
34	chr5:16180072-16180122	ovcar-3	ovarian:	n/a
35	chr5:16180048-16180098	HRPEpiC	eye:	n/a
36	chr5:16178784-16178834	HPAEpiC	pulmonary alveolar:	n/a
37	chr5:16178784-16178834	CMK	blood:	n/a
38	chr5:16180259-16180309	NH-A	brain:	n/a
39	chr5:16178784-16178834	HIPEpiC	eye:	n/a
40	chr5:16180062-16180112	AoSMC	blood vessel:	n/a
41	chr5:16180315-16180365	Caco-2	colon:	n/a
42	chr5:16179135-16179185	HPAEpiC	pulmonary alveolar:	n/a
43	chr5:16180055-16180105	H1-hESC	embryonic stem cell:	embryo
44	chr5:16179210-16179260	IMR90	lung:	fetal
45	chr5:16180033-16180083	GM12892	blood:	n/a
46	chr5:16179660-16179710	NHBE	bronchial:	n/a
47	chr5:16180419-16180469	HCT-116	colon:	n/a
48	chr5:16180068-16180118	GM12878	blood:	n/a
49	chr5:16180072-16180122	NB4	blood:	n/a
50	chr5:16180048-16180098	PANC-1	pancreas:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16177598..16179739-chr5:16465554..16467569,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXL7-2	chr5:16180347-16180549	ENSG00000250448

No data

Variant related genes	Relation type
MARCH11	TF binding region
ENSG00000250448	TF binding region
MARCH11	CpG island
ENSG00000250448	CpG island
ENSG00000173545	chromatin interactions
CRKL	miRNA target sites

Extended variants
information (count: 77 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75919735	chr5:16178480-16178481	Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs535327466	chr5:16178501-16178502	Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs553450818	chr5:16178574-16178575	Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs180880726	chr5:16178592-16178593	Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs545495672	chr5:16178618-16178619	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs150241493	chr5:16178626-16178627	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs199933714	chr5:16178636-16178637	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs575420087	chr5:16178645-16178646	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs546276810	chr5:16178692-16178693	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs138874914	chr5:16178761-16178762	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs568014091	chr5:16178762-16178763	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs373613667	chr5:16178839-16178840	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs342549	chr5:16178920-16178921	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs564899428	chr5:16178930-16178931	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs531971685	chr5:16178997-16178998	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs550664498	chr5:16179029-16179030	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs149404393	chr5:16179030-16179031	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs529800936	chr5:16179040-16179041	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs560024548	chr5:16179049-16179050	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs549639843	chr5:16179058-16179059	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs528675303	chr5:16179065-16179066	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs371438187	chr5:16179082-16179083	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs567857766	chr5:16179120-16179121	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs342550	chr5:16179125-16179126	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs570383869	chr5:16179136-16179137	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs375619178	chr5:16179139-16179140	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs547260968	chr5:16179211-16179212	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs538630398	chr5:16179268-16179269	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs557303397	chr5:16179269-16179270	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs575366143	chr5:16179313-16179314	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs542700832	chr5:16179343-16179344	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs554388253	chr5:16179711-16179712	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs572652512	chr5:16179723-16179724	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs540145920	chr5:16179834-16179835	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs371550142	chr5:16180005-16180006	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs369845425	chr5:16180006-16180007	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs70938047	chr5:16180020-16180021	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs564998697	chr5:16180095-16180096	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
39	rs185209661	chr5:16180164-16180165	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs188749984	chr5:16180311-16180312	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
41	rs543904579	chr5:16180369-16180370	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs537225440	chr5:16180417-16180418	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs181390963	chr5:16180435-16180436	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs548260228	chr5:16180484-16180485	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs561479417	chr5:16180490-16180491	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs528665187	chr5:16180519-16180520	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs547296196	chr5:16180522-16180523	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs559139265	chr5:16180523-16180524	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs79158094	chr5:16180546-16180547	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs539302150	chr5:16180582-16180583	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16178000-16179400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:16178200-16179000	Active TSS	Fetal Heart	heart
3	chr5:16178200-16179200	Active TSS	Brain Angular Gyrus	brain
4	chr5:16178200-16179400	Active TSS	Brain Anterior Caudate	brain
5	chr5:16178400-16179000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
6	chr5:16178400-16179400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:16178400-16179400	Active TSS	Brain Cingulate Gyrus	brain
8	chr5:16178400-16179400	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr5:16178600-16178800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:16178600-16178800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr5:16178600-16178800	Bivalent Enhancer	Fetal Brain Male	brain
12	chr5:16178600-16179000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr5:16178600-16179400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
14	chr5:16178600-16179600	Enhancers	Gastric	stomach
15	chr5:16178600-16180200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:16178600-16181000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
17	chr5:16178800-16179000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr5:16178800-16179000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:16178800-16179000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr5:16178800-16179000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
21	chr5:16178800-16179000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
22	chr5:16178800-16179000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
23	chr5:16178800-16179000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:16178800-16179000	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
25	chr5:16178800-16179000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
26	chr5:16178800-16179000	Bivalent Enhancer	Fetal Intestine Small	intestine
27	chr5:16178800-16179000	Bivalent Enhancer	Ovary	ovary
28	chr5:16178800-16179000	Enhancers	Right Ventricle	heart
29	chr5:16178800-16179200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
30	chr5:16178800-16179400	Bivalent/Poised TSS	NH-A	brain
31	chr5:16178800-16179800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:16178800-16180600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr5:16179000-16179200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:16179000-16179200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:16179000-16179200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:16179000-16179200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
37	chr5:16179000-16179200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr5:16179000-16179400	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr5:16179000-16179400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr5:16179000-16179400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr5:16179000-16179400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:16179000-16179400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
43	chr5:16179000-16179400	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
44	chr5:16179000-16179400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
45	chr5:16179000-16179400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr5:16179000-16179400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:16179000-16179400	Bivalent/Poised TSS	Colonic Mucosa	Colon
48	chr5:16179000-16179400	Bivalent Enhancer	Esophagus	oesophagus
49	chr5:16179000-16179400	Flanking Bivalent TSS/Enh	Left Ventricle	heart
50	chr5:16179000-16179400	Flanking Bivalent TSS/Enh	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links