Variant report

Variant	rs4833277
Chromosome Location	chr4:124316052-124316053
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:124316019-124316069	T-47D	breast:	n/a
2	chr4:124316019-124316069	AG09319	gingival:	n/a
3	chr4:124316019-124316069	ECC-1	luminal epithelium:	n/a
4	chr4:124316019-124316069	Hepatocyte	liver:	n/a
5	chr4:124316019-124316069	HCPEpiC	choroid plexus:	n/a
6	chr4:124316019-124316069	U87	brain:	n/a
7	chr4:124316019-124316069	PANC-1	pancreas:	n/a
8	chr4:124316019-124316069	HMEC	breast:	n/a
9	chr4:124316019-124316069	HEEpiC	esophagus:	n/a
10	chr4:124316019-124316069	BJ	skin:	n/a
11	chr4:124316019-124316069	PFSK-1	brain:	n/a
12	chr4:124316019-124316069	HCT-116	colon:	n/a
13	chr4:124316019-124316069	GM12892	blood:	n/a
14	chr4:124316019-124316069	HUVEC	blood vessel:	n/a
15	chr4:124316019-124316069	HPAEpiC	pulmonary alveolar:	n/a
16	chr4:124316019-124316069	MCF10A-Er-Src	breast:	n/a
17	chr4:124316019-124316069	K562	blood:	n/a
18	chr4:124316019-124316069	GM06990	blood:	n/a
19	chr4:124316019-124316069	NT2-D1	testis:	n/a
20	chr4:124316019-124316069	HIPEpiC	eye:	n/a
21	chr4:124316019-124316069	GM12878	blood:	n/a
22	chr4:124316019-124316069	NH-A	brain:	n/a
23	chr4:124316019-124316069	GM19239	blood:	n/a
24	chr4:124316019-124316069	HRPEpiC	eye:	n/a
25	chr4:124316019-124316069	LNCaP	prostate:	n/a
26	chr4:124316019-124316069	AG09309	skin:	n/a
27	chr4:124316019-124316069	NB4	blood:	n/a
28	chr4:124316019-124316069	HRCEpiC	kidney:	n/a
29	chr4:124316019-124316069	SK-N-SH_RA	brain:	n/a
30	chr4:124316019-124316069	H1-hESC	embryonic stem cell:	embryo
31	chr4:124316019-124316069	IMR90	lung:	fetal
32	chr4:124316019-124316069	Caco-2	colon:	n/a
33	chr4:124316019-124316069	AG10803	skin:	n/a
34	chr4:124316019-124316069	ovcar-3	ovarian:	n/a
35	chr4:124316019-124316069	SAEC	small airway:	n/a
36	chr4:124316019-124316069	AoSMC	blood vessel:	n/a
37	chr4:124316019-124316069	HCF	heart:	n/a
38	chr4:124316019-124316069	HAEpiC	amniotic membrane:	n/a
39	chr4:124316019-124316069	AG04449	skin:	fetal
40	chr4:124316019-124316069	NHBE	bronchial:	n/a
41	chr4:124316019-124316069	AG04450	lung:	fetal
42	chr4:124316019-124316069	ProgFib	skin:	n/a
43	chr4:124316019-124316069	A549	lung:	n/a
44	chr4:124316019-124316069	MCF-7	breast:	n/a
45	chr4:124316019-124316069	GM12891	blood:	n/a
46	chr4:124316019-124316069	BE2_C	brain:	n/a
47	chr4:124316019-124316069	HCM	heart:	n/a
48	chr4:124316019-124316069	SK-N-MC	brain:	n/a
49	chr4:124316019-124316069	HL-60	blood:	n/a
50	chr4:124316019-124316069	HepG2	liver:	n/a

No data

Variant related genes	Relation type
SPRY1	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10518414	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11098709	0.91[ASN][1000 genomes]
rs13145927	0.90[ASN][1000 genomes]
rs13150612	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs188513	0.89[ASN][1000 genomes]
rs28477228	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28514996	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs300555	0.93[ASN][1000 genomes]
rs300572	0.96[ASN][1000 genomes]
rs300573	0.83[ASN][1000 genomes]
rs300574	0.98[ASN][1000 genomes]
rs4833278	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9992811	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006945	chr4:124206328-124503863	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv537240	chr4:124206328-124503863	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124309000-124317400	Weak transcription	Psoas Muscle	Psoas
2	chr4:124311800-124317400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:124312000-124317400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:124312200-124317400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:124312800-124317000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:124315000-124317400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:124315200-124317400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:124315200-124317400	Weak transcription	Fetal Lung	lung
9	chr4:124315200-124317400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr4:124315200-124317400	Weak transcription	A549	lung
11	chr4:124315200-124317400	Weak transcription	NHDF-Ad	bronchial
12	chr4:124315600-124317400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:124315600-124317400	Weak transcription	HUVEC	blood vessel
14	chr4:124315600-124317600	Weak transcription	Left Ventricle	heart
15	chr4:124315800-124317400	Weak transcription	NHLF	lung

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