Variant report

Variant	rs427118
Chromosome Location	chr6:92344201-92344202
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1556623	0.82[AMR][1000 genomes]
rs1742314	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9362898	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017467	chr6:91802015-92417554	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv538360	chr6:91802015-92417554	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1034981	chr6:92280070-92530848	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1032777	chr6:92319154-92352802	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1018145	chr6:92328392-92951562	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv428491	chr6:92329694-92474678	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs427118	MAP3K7	cis	cerebellum	SCAN
rs427118	PMS2CL	trans	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:92342000-92345000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:92342800-92345000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr6:92342800-92345400	Enhancers	Brain Germinal Matrix	brain
4	chr6:92343000-92345200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:92343200-92344600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr6:92343200-92344600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:92343200-92345000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr6:92343200-92345000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:92343200-92345000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr6:92343400-92345000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:92343800-92344800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr6:92344000-92344400	Weak transcription	Ovary	ovary
13	chr6:92344000-92344800	Weak transcription	Fetal Kidney	kidney
14	chr6:92344000-92345000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:92344000-92345200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:92344200-92344600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

Quick Search:

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

what's new

Quick links