Variant report

Variant	rs2354963
Chromosome Location	chr7:11584063-11584064
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10275517	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10950355	0.84[CHB][hapmap]
rs11976743	0.83[CEU][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.85[AMR][1000 genomes]
rs15	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1541396	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs20	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2107476	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2189640	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2214588	0.94[CEU][hapmap];0.84[CHB][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs27	0.81[ASN][1000 genomes]
rs31	0.84[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs33	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41	0.89[ASN][1000 genomes]
rs42	0.89[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs43	0.90[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs44	0.89[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs45	0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs47	1.00[ASW][hapmap];0.84[CEU][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs54	0.95[ASN][1000 genomes]
rs55	0.93[CHB][hapmap];0.94[ASN][1000 genomes]
rs67	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[AMR][1000 genomes]
rs68	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs69	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6959645	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs6974688	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs70	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7780359	0.84[JPT][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs79	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs80	1.00[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs82	1.00[ASW][hapmap];0.94[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs929301	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028326	chr7:11221209-11754436	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv538733	chr7:11221209-11754436	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv830903	chr7:11384957-11586376	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1023665	chr7:11457493-11773517	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv887606	chr7:11473561-11771288	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1028614	chr7:11511684-11596934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv464366	chr7:11522525-11602899	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv606200	chr7:11522525-11602899	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2354963	NES	trans	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11570400-11592000	Weak transcription	Fetal Brain Male	brain
2	chr7:11577400-11615200	Weak transcription	Placenta	Placenta
3	chr7:11582400-11585800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:11582800-11585400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:11582800-11595000	Weak transcription	Fetal Kidney	kidney
6	chr7:11582800-11598600	Weak transcription	Fetal Lung	lung

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