Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11233969	1.00[CHD][hapmap]
rs11820047	1.00[CHD][hapmap]
rs12793913	1.00[CHD][hapmap]
rs12801228	1.00[CHD][hapmap]
rs12805177	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12808232	1.00[CHD][hapmap]
rs1399616	0.91[EUR][1000 genomes]
rs1515086	0.89[EUR][1000 genomes]
rs1515090	1.00[CHD][hapmap]
rs17146978	1.00[CHD][hapmap]
rs17499029	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17499421	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17564550	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34772303	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35136629	0.84[EUR][1000 genomes]
rs36126377	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6592167	1.00[CHD][hapmap]
rs7115103	1.00[CHD][hapmap]
rs7931375	1.00[CHD][hapmap]
rs7951287	1.00[CHD][hapmap]
rs963051	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs996665	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039924	chr11:83662904-83993497	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv541102	chr11:83662904-83993497	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv948410	chr11:83918339-84812001	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv415	chr11:83924941-83969603	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4561234	NEFH	trans	lymphoblastoid	seeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83944200-83947800	Enhancers	Brain Substantia Nigra	brain
2	chr11:83945000-83947600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:83945400-83961200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:83945800-83957400	Weak transcription	Brain Angular Gyrus	brain
5	chr11:83946000-83952000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:83946200-83952000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:83946200-83952800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:83946200-83953000	Weak transcription	Brain Hippocampus Middle	brain
9	chr11:83946400-83951800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:83946400-83952600	Weak transcription	Brain Anterior Caudate	brain
11	chr11:83946600-83947400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:83946600-83951800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:83946600-83952000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:83946600-83952400	Weak transcription	H9 Cell Line	embryonic stem cell

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