Variant report

Variant	rs10810738
Chromosome Location	chr9:17223492-17223493
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10810788	0.81[CHB][hapmap]
rs10962886	0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10962897	0.86[EUR][1000 genomes]
rs10962898	0.86[EUR][1000 genomes]
rs10962904	0.86[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10962917	1.00[ASW][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.85[LWK][hapmap];0.80[TSI][hapmap];0.93[YRI][hapmap];0.91[ASN][1000 genomes]
rs11562136	0.90[ASN][1000 genomes]
rs12003380	0.81[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs1576957	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1930594	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2183502	0.86[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2210539	0.94[ASW][hapmap];0.86[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2779761	1.00[ASW][hapmap];0.90[CEU][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.85[EUR][1000 genomes]
rs2779768	0.86[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.90[YRI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2779769	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2815174	0.90[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2815176	0.85[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2815179	0.82[CEU][hapmap];0.90[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2815180	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2815183	0.86[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2815184	1.00[ASW][hapmap];0.86[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4272490	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4458955	0.95[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs4961531	0.95[CEU][hapmap];0.92[YRI][hapmap];0.85[EUR][1000 genomes]
rs59047675	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6475113	0.86[CEU][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs6475121	0.83[ASN][1000 genomes]
rs7028249	0.87[EUR][1000 genomes]
rs7034418	0.86[EUR][1000 genomes]
rs7039814	0.85[EUR][1000 genomes]
rs7048983	0.87[EUR][1000 genomes]
rs7854322	0.87[EUR][1000 genomes]
rs7862706	0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7862811	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9407788	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv2764141	chr9:16903446-17351711	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv892657	chr9:17008137-17223492	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv892658	chr9:17041557-17532840	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1023525	chr9:17121773-17236072	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv892659	chr9:17130360-17236376	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv892660	chr9:17134245-17269437	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv892661	chr9:17134245-17532840	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv428537	chr9:17146369-17308494	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv613693	chr9:17147191-17710407	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv471287	chr9:17165698-17708814	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv466269	chr9:17165698-17710407	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv892662	chr9:17168867-17329964	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv1031269	chr9:17204320-17316969	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv1030291	chr9:17216945-17262803	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10810738	SH2B3	trans	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17204600-17236000	Weak transcription	Ovary	ovary
2	chr9:17207800-17246400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr9:17217000-17224800	Weak transcription	Liver	Liver
4	chr9:17217600-17225200	Weak transcription	Pancreas	Pancrea
5	chr9:17217600-17247000	Weak transcription	Left Ventricle	heart
6	chr9:17220000-17230000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:17222200-17223600	Enhancers	Colon Smooth Muscle	Colon
8	chr9:17222200-17242000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr9:17223200-17223600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:17223200-17242200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr9:17223400-17226600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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