Variant report

Variant	rs17506824
Chromosome Location	chr7:136709513-136709514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10246819	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1378650	0.98[ASN][1000 genomes]
rs324649	0.82[MEX][hapmap]
rs324650	0.86[MEX][hapmap]
rs324661	0.80[AFR][1000 genomes]
rs6962027	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6967953	1.00[ASW][hapmap];0.81[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7780181	0.98[ASN][1000 genomes]
rs8191992	0.90[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[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	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831147	chr7:136583444-136755741	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2753059	chr7:136633745-136893745	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17506824	BPGM	cis	parietal	SCAN
rs17506824	MKRN1	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136692600-136710600	Weak transcription	NHLF	lung
2	chr7:136700400-136717400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:136700600-136710600	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:136701000-136710400	Weak transcription	Fetal Stomach	stomach
5	chr7:136701000-136712000	Weak transcription	Left Ventricle	heart
6	chr7:136708600-136709600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:136708600-136709600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:136709000-136710200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:136709200-136710600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:136709400-136709600	Enhancers	Ovary	ovary
11	chr7:136709400-136709600	Enhancers	Stomach Smooth Muscle	stomach
12	chr7:136709400-136710400	Weak transcription	Fetal Heart	heart

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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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