Variant report

Variant	rs7116300
Chromosome Location	chr11:93847323-93847324
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10765652	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10765653	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10765654	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10831166	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1356565	0.85[EUR][1000 genomes]
rs1401186	0.85[EUR][1000 genomes]
rs2945637	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2945638	0.85[EUR][1000 genomes]
rs2945639	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2945640	0.83[EUR][1000 genomes]
rs2945641	0.85[EUR][1000 genomes]
rs2949861	0.85[EUR][1000 genomes]
rs2949862	0.80[EUR][1000 genomes]
rs4073613	0.85[JPT][hapmap]
rs4348853	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4753126	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898183	chr11:93725384-93906735	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1046092	chr11:93833446-93964452	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv523082	chr11:93834223-93866147	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv508651	chr11:93834300-93880470	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7116300	GPR83	cis	cerebellum	SCAN
rs7116300	PANX1	cis	cerebellum	SCAN
rs7116300	HEPHL1	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93843400-93860600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:93844800-93847400	Enhancers	HMEC	breast
3	chr11:93845200-93849000	Weak transcription	Ovary	ovary
4	chr11:93845200-93850000	Weak transcription	Aorta	Aorta
5	chr11:93845800-93847400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr11:93845800-93847400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr11:93845800-93847800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr11:93846400-93849400	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:93846600-93847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:93846600-93849200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:93846600-93849400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr11:93846600-93849800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:93846800-93849200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:93846800-93849400	Weak transcription	NHEK	skin
15	chr11:93847000-93848400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:93847200-93847400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr11:93847200-93847400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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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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