Variant report

Variant	rs62311483
Chromosome Location	chr4:48276628-48276629
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48270643..48273355-chr4:48275449..48277966,4	K562	blood:
2	chr4:48274201..48276645-chr4:48276828..48280429,3	K562	blood:
3	chr4:48270165..48273993-chr4:48275516..48278513,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135605	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11947400	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1812667	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2271265	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs309887	0.83[EUR][1000 genomes]
rs3792618	0.82[EUR][1000 genomes]
rs4695369	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55666922	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55784928	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55860639	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62309355	0.82[EUR][1000 genomes]
rs62309359	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62309366	0.89[AMR][1000 genomes]
rs62309367	0.89[AMR][1000 genomes]
rs62309371	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62309372	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62309393	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62309398	0.83[AMR][1000 genomes]
rs62309399	0.83[AMR][1000 genomes]
rs62309400	0.83[AMR][1000 genomes]
rs62309401	0.83[AMR][1000 genomes]
rs62309402	0.83[AMR][1000 genomes]
rs62311477	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62311497	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833004	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv470032	chr4:48251915-48312389	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48272800-48277200	Weak transcription	Fetal Lung	lung
2	chr4:48273200-48277200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr4:48273200-48277600	Weak transcription	Fetal Intestine Large	intestine
4	chr4:48273200-48279400	Weak transcription	Primary T cells from cord blood	blood
5	chr4:48273400-48281600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:48273600-48276800	Weak transcription	K562	blood
7	chr4:48273600-48279400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:48273800-48277200	Weak transcription	Thymus	Thymus
9	chr4:48273800-48281600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:48274000-48276800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:48274200-48277200	Weak transcription	Fetal Thymus	thymus
12	chr4:48275000-48277200	Weak transcription	GM12878-XiMat	blood
13	chr4:48276400-48277400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:48276600-48277400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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