Variant report

Variant	esv3443663
Chromosome Location	chr4:56499192-56499527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr4:56499515-56499758	GM12878	blood:	n/a	n/a
2	PML	chr4:56498736-56499200	K562	blood:	n/a	n/a
3	POLR2A	chr4:56499478-56502006	K562	blood:	n/a	n/a
4	POLR2A	chr4:56499394-56503785	K562	blood:	n/a	n/a
5	TBL1XR1	chr4:56499512-56501926	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:56499522-56499572	HPAEpiC	pulmonary alveolar:	n/a
2	chr4:56499522-56499572	HEEpiC	esophagus:	n/a
3	chr4:56499522-56499572	HCM	heart:	n/a
4	chr4:56499522-56499572	ProgFib	skin:	n/a
5	chr4:56499522-56499572	Hela-S3	cervix:	n/a
6	chr4:56499522-56499572	HIPEpiC	eye:	n/a
7	chr4:56499522-56499572	HNPCEpiC	eye:	n/a
8	chr4:56499522-56499572	AG09319	gingival:	n/a
9	chr4:56499522-56499572	GM12878	blood:	n/a
10	chr4:56499522-56499572	IMR90	lung:	fetal
11	chr4:56499522-56499572	BE2_C	brain:	n/a
12	chr4:56499522-56499572	PANC-1	pancreas:	n/a
13	chr4:56499522-56499572	HEK293	kidney:	embryo
14	chr4:56499522-56499572	Caco-2	colon:	n/a
15	chr4:56499522-56499572	AG10803	skin:	n/a
16	chr4:56499522-56499572	HCPEpiC	choroid plexus:	n/a
17	chr4:56499522-56499572	AoSMC	blood vessel:	n/a
18	chr4:56499522-56499572	HepG2	liver:	n/a
19	chr4:56499522-56499572	Hepatocyte	liver:	n/a
20	chr4:56499522-56499572	NT2-D1	testis:	n/a
21	chr4:56499522-56499572	HAEpiC	amniotic membrane:	n/a
22	chr4:56499522-56499572	PrEC	prostate:	n/a
23	chr4:56499522-56499572	AG04450	lung:	fetal
24	chr4:56499522-56499572	NHDF-neo	bronchial:	n/a
25	chr4:56499522-56499572	GM19239	blood:	n/a
26	chr4:56499522-56499572	CMK	blood:	n/a
27	chr4:56499522-56499572	Jurkat	blood:	n/a
28	chr4:56499522-56499572	AG09309	skin:	n/a
29	chr4:56499522-56499572	K562	blood:	n/a
30	chr4:56499522-56499572	NH-A	brain:	n/a
31	chr4:56499522-56499572	NB4	blood:	n/a
32	chr4:56499522-56499572	GM12892	blood:	n/a
33	chr4:56499522-56499572	U87	brain:	n/a
34	chr4:56499522-56499572	SK-N-SH_RA	brain:	n/a
35	chr4:56499522-56499572	AG04449	skin:	fetal
36	chr4:56499522-56499572	MCF10A-Er-Src	breast:	n/a
37	chr4:56499522-56499572	HUVEC	blood vessel:	n/a
38	chr4:56499522-56499572	NHBE	bronchial:	n/a
39	chr4:56499522-56499572	HL-60	blood:	n/a
40	chr4:56499522-56499572	T-47D	breast:	n/a
41	chr4:56499522-56499572	SAEC	small airway:	n/a
42	chr4:56499522-56499572	HRCEpiC	kidney:	n/a
43	chr4:56499522-56499572	BJ	skin:	n/a
44	chr4:56499522-56499572	SKMC	muscle:	n/a
45	chr4:56499522-56499572	A549	lung:	n/a
46	chr4:56499522-56499572	HCT-116	colon:	n/a
47	chr4:56499522-56499572	HCF	heart:	n/a
48	chr4:56499522-56499572	HRE	kidney:	n/a
49	chr4:56499522-56499572	GM12891	blood:	n/a
50	chr4:56499522-56499572	SK-N-MC	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56407970..56411777-chr4:56498734..56501001,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NMU-2	chr4:56499346-56499878	l_2648_chr4:56499345-56508927_adipose

No data

Variant related genes	Relation type
NMU	TF binding region
NMU	CpG island

Extended variants
information (count: 32 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149984758	chr4:56499197-56499198	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs68194044	chr4:56499198-56499199	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs56665930	chr4:56499205-56499206	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs569487665	chr4:56499215-56499216	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs139910474	chr4:56499217-56499218	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs55893990	chr4:56499220-56499221	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs547752482	chr4:56499229-56499230	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs567838162	chr4:56499230-56499231	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs56156718	chr4:56499251-56499252	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs553583098	chr4:56499253-56499254	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs576616534	chr4:56499258-56499259	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs1906674	chr4:56499267-56499268	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs556184747	chr4:56499268-56499269	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs56189453	chr4:56499274-56499275	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs530536082	chr4:56499287-56499288	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs146552459	chr4:56499293-56499294	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs561236550	chr4:56499301-56499302	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs369471253	chr4:56499313-56499314	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs575013940	chr4:56499318-56499319	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs7678236	chr4:56499319-56499320	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs372458502	chr4:56499335-56499336	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs560715371	chr4:56499349-56499350	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs577427887	chr4:56499353-56499354	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
24	rs56710169	chr4:56499384-56499385	Weak transcription Enhancers Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs552699415	chr4:56499386-56499387	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs56268402	chr4:56499397-56499398	Weak transcription Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs372485287	chr4:56499410-56499411	Weak transcription Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs151270447	chr4:56499476-56499477	Weak transcription Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs7657328	chr4:56499501-56499502	Weak transcription Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs545585061	chr4:56499502-56499503	Weak transcription Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs71192030	chr4:56499503-56499504	Weak transcription Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs397993443	chr4:56499516-56499517	Weak transcription Enhancers Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56493400-56500200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:56494000-56500600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:56498000-56500200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr4:56498200-56499200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr4:56498200-56499800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:56498400-56499200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:56498400-56499600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr4:56498600-56499600	Active TSS	K562	blood
9	chr4:56498800-56499800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:56498800-56500000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:56499000-56499600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:56499000-56499800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:56499000-56500000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:56499200-56499600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:56499200-56499600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:56499400-56501000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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