Variant report

Variant	rs1429127
Chromosome Location	chr4:148250469-148250470
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1005771	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1346599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1366692	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1366694	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1429101	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1429138	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1429140	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1981987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2115561	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2714904	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4835078	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4835079	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4835396	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6816629	1.00[EUR][1000 genomes]
rs6817192	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6823869	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7694172	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs934142	0.88[AMR][1000 genomes];1.00[EUR][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	nsv1024629	chr4:147987351-148277008	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830108	chr4:148114652-148311104	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
3	nsv4540	chr4:148230593-148275778	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148238000-148255800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:148244400-148255600	Weak transcription	Aorta	Aorta
3	chr4:148246200-148263400	Weak transcription	Right Atrium	heart
4	chr4:148248800-148253000	Weak transcription	Fetal Stomach	stomach
5	chr4:148248800-148260200	Weak transcription	NHLF	lung
6	chr4:148249000-148253200	Weak transcription	Fetal Kidney	kidney
7	chr4:148250400-148254600	Weak transcription	Rectal Mucosa Donor 31	rectum

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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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