Variant report

Variant	rs73086113
Chromosome Location	chr4:3062128-3062129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:3061846..3066682-chr4:3074645..3077893,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NOP14-5	chr4:3061974-3062266	NONHSAT094844

Variant related genes	Relation type
ENSG00000251075	Chromatin interaction
ENSG00000197386	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11929714	0.87[EUR][1000 genomes]
rs16843773	1.00[EUR][1000 genomes]
rs34857805	0.87[EUR][1000 genomes]
rs55646607	0.84[EUR][1000 genomes]
rs55942209	0.82[EUR][1000 genomes]
rs56340718	0.87[EUR][1000 genomes]
rs58892460	0.87[EUR][1000 genomes]
rs60003208	0.84[EUR][1000 genomes]
rs61293276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61321259	1.00[EUR][1000 genomes]
rs61487059	0.87[EUR][1000 genomes]
rs6812304	1.00[EUR][1000 genomes]
rs6815398	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6824519	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6834166	0.83[EUR][1000 genomes]
rs6837436	0.87[EUR][1000 genomes]
rs6843832	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6846128	0.87[EUR][1000 genomes]
rs6848638	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6853929	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6854307	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73084109	0.87[EUR][1000 genomes]
rs73084117	0.87[EUR][1000 genomes]
rs73084128	0.87[EUR][1000 genomes]
rs73086111	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73086116	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73792175	1.00[EUR][1000 genomes]
rs7657057	0.91[EUR][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	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	esv13277	chr4:3059756-3069436	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	2 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	chr4:3048200-3075200	Weak transcription	Right Atrium	heart
2	chr4:3049600-3074800	Weak transcription	Lung	lung
3	chr4:3053800-3064600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:3058200-3075200	Weak transcription	Psoas Muscle	Psoas
5	chr4:3059600-3065200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr4:3060200-3062600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr4:3060400-3062200	Enhancers	Adipose Nuclei	Adipose
8	chr4:3060400-3063800	Weak transcription	Placenta	Placenta
9	chr4:3060600-3062800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr4:3060800-3074800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:3061000-3064000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:3061000-3074800	Weak transcription	Spleen	Spleen
13	chr4:3061600-3062600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:3061600-3064000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr4:3061600-3068400	Weak transcription	Primary B cells from cord blood	blood
16	chr4:3061600-3075000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:3061800-3063600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr4:3062000-3063000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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