Variant report

Variant	rs7870323
Chromosome Location	chr9:72552407-72552408
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10429516	0.91[ASN][1000 genomes]
rs1493048	0.98[ASN][1000 genomes]
rs1565687	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17086135	0.85[CHB][hapmap]
rs17086599	0.98[ASN][1000 genomes]
rs59071066	0.91[ASN][1000 genomes]
rs60875205	0.98[ASN][1000 genomes]
rs73442680	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73442681	0.98[ASN][1000 genomes]
rs73442689	0.98[ASN][1000 genomes]
rs73442702	0.98[ASN][1000 genomes]
rs73446745	0.98[ASN][1000 genomes]
rs73446748	0.98[ASN][1000 genomes]
rs7854351	0.91[ASN][1000 genomes]
rs7866686	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050920	chr9:72345297-72579301	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv893438	chr9:72363992-72720438	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv831612	chr9:72473778-72634253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv893439	chr9:72500956-72568962	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1043276	chr9:72522231-72571726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1049457	chr9:72539144-72765913	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1011383	chr9:72542754-72556009	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7870323	MAMDC2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72550800-72553000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr9:72551000-72552800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:72551200-72553000	Enhancers	HMEC	breast
4	chr9:72551400-72552800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr9:72551400-72553000	Enhancers	NHDF-Ad	bronchial
6	chr9:72551400-72553600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:72551600-72552600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr9:72551800-72553600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr9:72552000-72552800	Enhancers	K562	blood
10	chr9:72552000-72552800	Enhancers	Osteobl	bone
11	chr9:72552200-72552600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr9:72552200-72553000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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