Variant report

Variant	rs4897496
Chromosome Location	chr6:131405141-131405142
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10872376	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12525104	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs17180687	0.80[AFR][1000 genomes]
rs17180867	0.80[AFR][1000 genomes]
rs4895904	0.80[AFR][1000 genomes]
rs4895906	0.80[AFR][1000 genomes]
rs4895907	0.80[AFR][1000 genomes]
rs4895908	0.80[AFR][1000 genomes]
rs4895909	0.80[AFR][1000 genomes]
rs4897487	0.80[AFR][1000 genomes]
rs4897489	0.80[AFR][1000 genomes]
rs4897491	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4897492	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55898152	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62422365	0.83[AFR][1000 genomes]
rs6916024	0.80[AFR][1000 genomes]
rs6928334	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6935108	0.80[AFR][1000 genomes]
rs7758016	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv830807	chr6:131390952-131581931	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv10623	chr6:131397221-131418195	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4897496	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131404400-131405400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:131404800-131405600	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr6:131404800-131405600	Enhancers	Stomach Mucosa	stomach
4	chr6:131404800-131405800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:131405000-131405600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:131405000-131405800	Enhancers	Cortex derived primary cultured neurospheres	brain

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Input of quick search could be:

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

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