Variant report

Variant	rs4423335
Chromosome Location	chr14:32361076-32361077
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:32360805..32362723-chr14:32544749..32546621,2	K562	blood:

Variant related genes	Relation type
ENSG00000258655	Chromatin interaction
ENSG00000100852	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10133717	0.83[EUR][1000 genomes]
rs10133942	0.83[EUR][1000 genomes]
rs10139417	0.83[EUR][1000 genomes]
rs10140206	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622367	0.83[EUR][1000 genomes]
rs11622373	0.83[EUR][1000 genomes]
rs12437217	1.00[ASN][1000 genomes]
rs17098275	1.00[ASN][1000 genomes]
rs17464234	1.00[ASN][1000 genomes]
rs28492902	0.85[EUR][1000 genomes]
rs28525613	1.00[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	nsv564180	chr14:31958566-32368934	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv564181	chr14:31958761-32363980	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv564182	chr14:32110519-32584337	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1046526	chr14:32110537-32567426	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv526200	chr14:32308511-32454372	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32347000-32361400	Weak transcription	Right Atrium	heart
2	chr14:32351600-32362000	Weak transcription	Right Ventricle	heart
3	chr14:32351800-32361400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr14:32351800-32361400	Weak transcription	Left Ventricle	heart
5	chr14:32351800-32361600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr14:32351800-32362000	Weak transcription	Adipose Nuclei	Adipose
7	chr14:32351800-32362600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:32351800-32362800	Weak transcription	Spleen	Spleen
9	chr14:32354400-32362400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:32354400-32364600	Weak transcription	HSMM	muscle
11	chr14:32355000-32362400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:32356000-32362600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:32356200-32362400	Weak transcription	HMEC	breast
14	chr14:32358800-32361600	Weak transcription	Brain Germinal Matrix	brain
15	chr14:32358800-32366600	Weak transcription	Fetal Brain Female	brain
16	chr14:32360600-32362400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:32360600-32365000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:32360600-32365200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:32360800-32365200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:32361000-32365200	Enhancers	Cortex derived primary cultured neurospheres	brain

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