Variant report

Variant	esv3513388
Chromosome Location	chr4:56265495-56269293
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr4:56265302-56265538	K562	blood:	n/a	n/a
2	CEBPB	chr4:56269267-56269519	K562	blood:	n/a	n/a
3	CHD1	chr4:56261060-56266047	IMR90	lung:	n/a	n/a
4	CTCF	chr4:56268055-56268112	GM13977	blood:	n/a	n/a
5	CTCF	chr4:56266855-56266873	GM13976	blood:	n/a	n/a
6	CUX1	chr4:56265404-56265692	K562	blood:	n/a	n/a
7	FOS	chr4:56264180-56265531	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr4:56264209-56265894	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr4:56264233-56265510	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr4:56265947-56265960	MCF10A-Er-Src	breast:	n/a	n/a
11	GTF2F1	chr4:56267234-56267272	K562	blood:	n/a	n/a
12	JUND	chr4:56265234-56265532	K562	blood:	n/a	n/a
13	MAFK	chr4:56269284-56269447	HepG2	liver:	n/a	chr4:56269311-56269322
14	MAFK	chr4:56265472-56265661	K562	blood:	n/a	n/a
15	MXI1	chr4:56260947-56266145	SK-N-SH	brain:	n/a	n/a
16	NRF1	chr4:56267652-56267803	K562	blood:	n/a	n/a
17	POLR2A	chr4:56265265-56265627	GM12878	blood:	n/a	n/a
18	POLR2A	chr4:56269098-56269122	K562	blood:	n/a	n/a
19	POLR2A	chr4:56267444-56267718	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr4:56268737-56268885	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr4:56265293-56265599	HepG2	liver:	n/a	n/a
22	POLR2A	chr4:56265439-56265724	GM12878	blood:	n/a	n/a
23	POLR2A	chr4:56268609-56269000	GM12878	blood:	n/a	n/a
24	POLR2A	chr4:56268604-56269014	K562	blood:	n/a	n/a
25	POLR2A	chr4:56269258-56269498	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr4:56268831-56268912	A549	lung:	n/a	n/a
27	POLR2A	chr4:56269282-56269565	HepG2	liver:	n/a	n/a
28	POLR2A	chr4:56269246-56269889	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr4:56268475-56270582	IMR90	lung:	n/a	n/a
30	POLR2A	chr4:56261116-56266115	IMR90	lung:	n/a	n/a
31	POLR2A	chr4:56265393-56265565	GM12878	blood:	n/a	n/a
32	POLR2A	chr4:56267055-56267867	K562	blood:	n/a	n/a
33	POLR2A	chr4:56269232-56270195	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr4:56269195-56269395	GM12878	blood:	n/a	n/a
35	POLR2A	chr4:56268677-56269004	K562	blood:	n/a	n/a
36	POLR2A	chr4:56268244-56268530	K562	blood:	n/a	n/a
37	POLR2A	chr4:56268360-56274870	K562	blood:	n/a	n/a
38	POLR2A	chr4:56269192-56269554	A549	lung:	n/a	n/a
39	POLR2A	chr4:56265403-56265546	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr4:56268580-56268980	K562	blood:	n/a	n/a
41	POLR2A	chr4:56266731-56266852	HepG2	liver:	n/a	n/a
42	POLR2A	chr4:56265530-56265785	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr4:56269123-56269511	K562	blood:	n/a	n/a
44	POLR2A	chr4:56267578-56267745	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr4:56268745-56268922	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr4:56267894-56268099	K562	blood:	n/a	n/a
47	POLR2A	chr4:56268074-56268234	K562	blood:	n/a	n/a
48	POLR2A	chr4:56268518-56268578	K562	blood:	n/a	n/a
49	POLR2A	chr4:56264045-56265557	PBDE	blood:	n/a	n/a
50	POLR2A	chr4:56265169-56265791	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:56268848-56268898	Hepatocyte	liver:	n/a
2	chr4:56268848-56268898	AoSMC	blood vessel:	n/a
3	chr4:56268848-56268898	H1-hESC	embryonic stem cell:	embryo
4	chr4:56268848-56268898	HNPCEpiC	eye:	n/a
5	chr4:56268848-56268898	AG09319	gingival:	n/a
6	chr4:56268848-56268898	SKMC	muscle:	n/a
7	chr4:56268848-56268898	GM12878	blood:	n/a
8	chr4:56268848-56268898	HRCEpiC	kidney:	n/a
9	chr4:56268848-56268898	U87	brain:	n/a
10	chr4:56268848-56268898	HEEpiC	esophagus:	n/a
11	chr4:56268848-56268898	MCF10A-Er-Src	breast:	n/a
12	chr4:56268848-56268898	HCF	heart:	n/a
13	chr4:56268848-56268898	HL-60	blood:	n/a
14	chr4:56268848-56268898	HCT-116	colon:	n/a
15	chr4:56268848-56268898	IMR90	lung:	fetal
16	chr4:56268848-56268898	GM19239	blood:	n/a
17	chr4:56268848-56268898	HCPEpiC	choroid plexus:	n/a
18	chr4:56268848-56268898	K562	blood:	n/a
19	chr4:56268848-56268898	HEK293	kidney:	embryo
20	chr4:56268848-56268898	LNCaP	prostate:	n/a
21	chr4:56268848-56268898	PrEC	prostate:	n/a
22	chr4:56268848-56268898	HAEpiC	amniotic membrane:	n/a
23	chr4:56268848-56268898	GM06990	blood:	n/a
24	chr4:56268848-56268898	ProgFib	skin:	n/a
25	chr4:56268848-56268898	HUVEC	blood vessel:	n/a
26	chr4:56268848-56268898	AG04450	lung:	fetal
27	chr4:56268848-56268898	HRE	kidney:	n/a
28	chr4:56268848-56268898	AG09309	skin:	n/a
29	chr4:56268848-56268898	MCF-7	breast:	n/a
30	chr4:56268848-56268898	HepG2	liver:	n/a
31	chr4:56268848-56268898	SK-N-MC	brain:	n/a
32	chr4:56268848-56268898	A549	lung:	n/a
33	chr4:56268848-56268898	PFSK-1	brain:	n/a
34	chr4:56268848-56268898	GM12892	blood:	n/a
35	chr4:56268848-56268898	HRPEpiC	eye:	n/a
36	chr4:56268848-56268898	BE2_C	brain:	n/a
37	chr4:56268848-56268898	ECC-1	luminal epithelium:	n/a
38	chr4:56268848-56268898	SAEC	small airway:	n/a
39	chr4:56268848-56268898	T-47D	breast:	n/a
40	chr4:56268848-56268898	NHDF-neo	bronchial:	n/a
41	chr4:56268848-56268898	HCM	heart:	n/a
42	chr4:56268848-56268898	Hela-S3	cervix:	n/a
43	chr4:56268848-56268898	PANC-1	pancreas:	n/a
44	chr4:56268848-56268898	GM12891	blood:	n/a
45	chr4:56268848-56268898	AG10803	skin:	n/a
46	chr4:56268848-56268898	NH-A	brain:	n/a
47	chr4:56268848-56268898	NHBE	bronchial:	n/a
48	chr4:56268848-56268898	ovcar-3	ovarian:	n/a
49	chr4:56268848-56268898	Caco-2	colon:	n/a
50	chr4:56268848-56268898	HPAEpiC	pulmonary alveolar:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:56211242..56218739-chr4:56258356..56267013,28	MCF-7	breast:
2	chr4:56261651..56266514-chr4:56267808..56271520,10	MCF-7	breast:
3	chr4:56266067..56267699-chr4:56271922..56273908,2	MCF-7	breast:
4	chr4:56211281..56215987-chr4:56257992..56268538,18	K562	blood:
5	chr4:56212672..56213486-chr4:56265314..56266061,2	MCF-7	breast:
6	chr4:56210761..56214527-chr4:56265668..56271169,8	K562	blood:
7	chr4:56211148..56230966-chr4:56256626..56269458,54	MCF-7	breast:
8	chr4:56206647..56208292-chr4:56265434..56267347,2	MCF-7	breast:
9	chr4:56261651..56266514-chr4:56267808..56271520,10	MCF-7	breast:
10	chr4:56247536..56249762-chr4:56263632..56266279,3	K562	blood:
11	chr4:56262170..56264152-chr4:56264363..56265916,3	K562	blood:
12	chr4:56216631..56219493-chr4:56263836..56266245,2	K562	blood:

No data

Variant related genes	Relation type
SRD5A3-AS1	TF binding region
TMEM165	TF binding region
SRD5A3-AS1	CpG island
TMEM165	CpG island
ENSG00000249700	chromatin interactions
ENSG00000128039	chromatin interactions
ENSG00000251111	chromatin interactions
ENSG00000134851	chromatin interactions

Extended variants
information (count: 168 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:168 , 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	rs57160206	chr4:56265567-56265568	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189510959	chr4:56265568-56265569	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs567893151	chr4:56265573-56265574	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs181658062	chr4:56265586-56265587	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs141846706	chr4:56265602-56265603	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs146054824	chr4:56265651-56265652	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs977061	chr4:56265661-56265662	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs187120628	chr4:56265662-56265663	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs528939801	chr4:56265709-56265710	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs542542794	chr4:56265717-56265718	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs549213519	chr4:56265737-56265738	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs565849950	chr4:56265740-56265741	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs534786878	chr4:56265854-56265855	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs535323265	chr4:56265865-56265866	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs375029419	chr4:56265911-56265912	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs551730981	chr4:56265952-56265953	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs571553110	chr4:56265999-56266000	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs552735380	chr4:56266028-56266029	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs191053696	chr4:56266072-56266073	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs116615602	chr4:56266109-56266110	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs181470907	chr4:56266168-56266169	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs576499317	chr4:56266171-56266172	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs79539492	chr4:56266194-56266195	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs78739646	chr4:56266195-56266196	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs114205334	chr4:56266212-56266213	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs369748772	chr4:56266235-56266236	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs58176292	chr4:56266298-56266299	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs59648459	chr4:56266334-56266335	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs544597211	chr4:56266351-56266352	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs551900826	chr4:56266352-56266353	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs79554198	chr4:56266361-56266362	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs13144882	chr4:56266377-56266378	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs375108155	chr4:56266386-56266387	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs369859532	chr4:56266388-56266389	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs35673748	chr4:56266389-56266390	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs386400087	chr4:56266391-56266392	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs58851706	chr4:56266394-56266395	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs549762657	chr4:56266410-56266411	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs373799012	chr4:56266411-56266412	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs376316386	chr4:56266416-56266417	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs56821240	chr4:56266417-56266418	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs58525709	chr4:56266418-56266419	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs58449007	chr4:56266421-56266422	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs57166734	chr4:56266425-56266426	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs60466195	chr4:56266427-56266428	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs57272171	chr4:56266431-56266432	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs13139799	chr4:56266432-56266433	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs71194550	chr4:56266445-56266446	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs564487420	chr4:56266456-56266457	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs59972958	chr4:56266486-56266487	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	22183965	CNVD
Autism	22543975	CNVD
Breast cancer	21785460	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:461 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56261400-56265600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr4:56261400-56265600	Active TSS	HSMMtube	muscle
3	chr4:56261400-56266000	Active TSS	Right Atrium	heart
4	chr4:56261600-56266000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:56262400-56265600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:56262800-56265600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr4:56262800-56266000	Transcr. at gene 5' and 3'	Dnd41	blood
8	chr4:56263400-56265800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
9	chr4:56263400-56265800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr4:56263400-56265800	Transcr. at gene 5' and 3'	NHEK	skin
11	chr4:56263400-56265800	Transcr. at gene 5' and 3'	Osteobl	bone
12	chr4:56263400-56266000	Transcr. at gene 5' and 3'	K562	blood
13	chr4:56263600-56265600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:56263600-56265800	Enhancers	Fetal Heart	heart
15	chr4:56263600-56266000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:56263600-56266000	Enhancers	Primary B cells from peripheral blood	blood
17	chr4:56263800-56265600	Active TSS	Liver	Liver
18	chr4:56263800-56265800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr4:56263800-56266200	Enhancers	Primary T cells fromperipheralblood	blood
20	chr4:56264200-56265600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:56264200-56265600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr4:56264200-56265600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr4:56264200-56265800	Transcr. at gene 5' and 3'	NH-A	brain
24	chr4:56264200-56266000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
25	chr4:56264200-56266000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
26	chr4:56264200-56266000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:56264200-56266000	Transcr. at gene 5' and 3'	HUVEC	blood vessel
28	chr4:56264200-56267400	Enhancers	Small Intestine	intestine
29	chr4:56264200-56269800	Weak transcription	Spleen	Spleen
30	chr4:56264200-56270200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:56264200-56273000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:56264400-56265600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr4:56264400-56265600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:56264400-56265600	Flanking Active TSS	HepG2	liver
35	chr4:56264400-56265800	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr4:56264400-56266000	Genic enhancers	Fetal Intestine Large	intestine
37	chr4:56264600-56265600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:56264600-56265600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
39	chr4:56264600-56266000	Enhancers	Primary hematopoietic stem cells	blood
40	chr4:56264600-56266000	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr4:56264600-56266000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr4:56264600-56266000	Active TSS	Brain Cingulate Gyrus	brain
43	chr4:56264600-56266000	Enhancers	Brain Germinal Matrix	brain
44	chr4:56264600-56266000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:56264600-56266000	Enhancers	Fetal Brain Female	brain
46	chr4:56264600-56266200	Genic enhancers	Fetal Muscle Leg	muscle
47	chr4:56264600-56266800	Weak transcription	Placenta	Placenta
48	chr4:56264600-56270000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr4:56264800-56265600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:56264800-56265600	Enhancers	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links