Variant report

Variant	rs324647
Chromosome Location	chr7:136692752-136692753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10271552	0.84[CEU][hapmap]
rs12113753	0.81[AMR][1000 genomes]
rs13229637	0.81[AMR][1000 genomes]
rs1364402	0.92[CEU][hapmap]
rs17168799	0.92[CEU][hapmap]
rs17168896	0.84[AMR][1000 genomes]
rs324634	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs324641	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs324646	1.00[CEU][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs324648	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324651	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34539155	0.96[EUR][1000 genomes]
rs34907276	0.81[AMR][1000 genomes]
rs34908748	0.83[EUR][1000 genomes]
rs67532040	0.81[AMR][1000 genomes]
rs73447194	0.84[AMR][1000 genomes]
rs7791871	0.91[CEU][hapmap]
rs889934	0.92[CEU][hapmap]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs324647	KIAA1549	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136674800-136694200	Weak transcription	Left Ventricle	heart
2	chr7:136687600-136694400	Enhancers	Fetal Heart	heart
3	chr7:136691000-136692800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:136691000-136692800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:136691400-136692800	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr7:136691800-136699800	Weak transcription	Fetal Stomach	stomach
7	chr7:136692000-136693400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:136692000-136695200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:136692200-136699800	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:136692200-136699800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:136692600-136695200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:136692600-136699800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:136692600-136710600	Weak transcription	NHLF	lung

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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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