Variant report

Variant	rs4671841
Chromosome Location	chr2:67921411-67921412
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10169649	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs10191401	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10203890	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10865363	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11675008	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11692071	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13403823	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1430774	0.86[ASN][1000 genomes]
rs1549779	0.84[YRI][hapmap]
rs4671829	0.83[YRI][hapmap]
rs4671836	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4671839	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4671840	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs56324151	0.84[ASN][1000 genomes]
rs58450143	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs724568	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs737358	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7564895	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv1007345	chr2:67870225-67980094	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv834250	chr2:67897722-68051532	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4671841	APLF	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67917400-67921800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:67920800-67922200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:67921000-67922200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:67921200-67922200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:67921200-67922400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:67921200-67922400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:67921200-67923400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:67921400-67921600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:67921400-67921800	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr2:67921400-67922400	Enhancers	Primary hematopoietic stem cells	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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