Variant report

Variant	rs7655049
Chromosome Location	chr4:106052464-106052465
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs17035323	1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1986799	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1986800	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4698934	0.92[GIH][hapmap];0.89[MEX][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4699160	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67776122	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72665913	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72665914	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72665916	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72665920	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72665924	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72665926	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72665928	0.87[EUR][1000 genomes]
rs72665931	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72665935	0.82[AMR][1000 genomes];0.83[EUR][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	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv830025	chr4:105988876-106137946	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7655049	BANK1	cis	parietal	SCAN
rs7655049	THNSL1	trans	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106049400-106053200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr4:106049600-106053200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr4:106051400-106056600	Weak transcription	Fetal Heart	heart
4	chr4:106052000-106053200	Enhancers	Primary B cells from cord blood	blood
5	chr4:106052200-106052600	Enhancers	Primary hematopoietic stem cells	blood
6	chr4:106052200-106052600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr4:106052200-106052600	Enhancers	HUVEC	blood vessel
8	chr4:106052400-106052800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr4:106052400-106056800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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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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