Variant report

Variant	rs73814695
Chromosome Location	chr4:48213359-48213360
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11727072	0.93[ASN][1000 genomes]
rs2017242	0.93[ASN][1000 genomes]
rs56196488	0.93[ASN][1000 genomes]
rs56789983	0.93[ASN][1000 genomes]
rs56840999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58948620	0.93[ASN][1000 genomes]
rs59192457	0.93[ASN][1000 genomes]
rs60145199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67807921	0.93[ASN][1000 genomes]
rs6837345	0.93[ASN][1000 genomes]
rs73244502	0.93[ASN][1000 genomes]
rs73814697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73814699	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73814701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7697423	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48190400-48222000	Weak transcription	Fetal Intestine Small	intestine
2	chr4:48204400-48225600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:48207400-48227800	Weak transcription	Esophagus	oesophagus
4	chr4:48207800-48213600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr4:48212200-48213800	Flanking Active TSS	GM12878-XiMat	blood
6	chr4:48212200-48214200	Enhancers	Primary B cells from cord blood	blood
7	chr4:48212400-48213400	Enhancers	Duodenum Mucosa	Duodenum
8	chr4:48212400-48215000	Enhancers	Primary B cells from peripheral blood	blood
9	chr4:48212600-48213600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:48212600-48213800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr4:48212600-48213800	Weak transcription	Thymus	Thymus
12	chr4:48212600-48214000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr4:48213000-48213400	Enhancers	Primary hematopoietic stem cells	blood
14	chr4:48213000-48213400	Enhancers	K562	blood
15	chr4:48213000-48214800	Enhancers	Liver	Liver
16	chr4:48213200-48213600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:48213200-48213600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:48213200-48214200	Enhancers	Monocytes-CD14+_RO01746	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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