Variant report

Variant	rs2277280
Chromosome Location	chr11:105732687-105732688
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs12573988	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12574754	1.00[JPT][hapmap]
rs12575492	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12577871	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17104703	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17104711	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17104747	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17104765	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs17104807	0.82[JPT][hapmap]
rs17391232	0.82[JPT][hapmap]
rs17391295	0.82[JPT][hapmap]
rs17391463	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs1938908	0.86[ASN][1000 genomes]
rs1938910	0.82[JPT][hapmap]
rs1938912	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1938913	0.85[JPT][hapmap]
rs1938914	0.86[ASN][1000 genomes]
rs1939154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1940965	0.89[ASN][1000 genomes]
rs2155019	0.86[ASN][1000 genomes]
rs2155021	0.86[ASN][1000 genomes]
rs2226578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2277279	0.80[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs2409608	0.86[ASN][1000 genomes]
rs2508467	0.80[CHB][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap]
rs2509482	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs2898229	0.86[ASN][1000 genomes]
rs2898230	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3737334	0.82[JPT][hapmap]
rs3758795	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3819079	0.80[CHD][hapmap];0.82[JPT][hapmap]
rs41302411	0.86[ASN][1000 genomes]
rs474158	0.80[CHD][hapmap];0.82[JPT][hapmap]
rs4754137	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4754138	0.86[ASN][1000 genomes]
rs4755118	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4755119	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4755120	0.83[ASN][1000 genomes]
rs4755121	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs539153	0.85[JPT][hapmap]
rs552767	0.85[JPT][hapmap]
rs585464	0.85[JPT][hapmap]
rs589904	0.85[JPT][hapmap]
rs602098	0.85[JPT][hapmap]
rs609239	0.88[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs611352	0.85[JPT][hapmap]
rs674307	0.85[JPT][hapmap]
rs679914	0.85[JPT][hapmap]
rs7116745	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.96[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72976031	0.89[ASN][1000 genomes]
rs72976037	0.86[ASN][1000 genomes]
rs72978094	0.86[ASN][1000 genomes]
rs72978096	0.86[ASN][1000 genomes]
rs7933212	1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945345	1.00[JPT][hapmap];0.83[ASN][1000 genomes]

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	nsv832257	chr11:105662753-105817576	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv1825856	chr11:105672706-105775768	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv1825993	chr11:105698982-105762601	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2277280	BIRC2	cis	cerebellum	SCAN
rs2277280	ELMOD1	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:105705200-105764600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:105725200-105733400	Weak transcription	Brain Substantia Nigra	brain
3	chr11:105728600-105734000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr11:105728600-105734400	Weak transcription	Brain Germinal Matrix	brain
5	chr11:105728800-105738000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:105730000-105739400	Weak transcription	Brain Angular Gyrus	brain
7	chr11:105730400-105738600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:105731000-105733400	Weak transcription	Brain Inferior Temporal Lobe	brain

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