Variant report

Variant	rs7694172
Chromosome Location	chr4:148259878-148259879
allele	A/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[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1346599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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]
rs1429127	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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];0.96[ASN][1000 genomes]
rs2115561	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2714904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6823869	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs934142	0.83[AFR][1000 genomes];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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148246200-148263400	Weak transcription	Right Atrium	heart
2	chr4:148248800-148260200	Weak transcription	NHLF	lung
3	chr4:148255000-148260200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:148256000-148261400	Weak transcription	Fetal Stomach	stomach
5	chr4:148256200-148261200	Weak transcription	NHDF-Ad	bronchial
6	chr4:148257600-148261200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:148257600-148261200	Weak transcription	HSMM	muscle
8	chr4:148257600-148262000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:148257800-148261200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:148257800-148261600	Weak transcription	NH-A	brain
11	chr4:148258200-148261200	Weak transcription	HUVEC	blood vessel
12	chr4:148259000-148261400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr4:148259600-148260400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr4:148259800-148261400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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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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