Variant report

Variant	rs1959071
Chromosome Location	chr14:32308511-32308512
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10129419	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs10135411	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10136892	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10148852	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10150448	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10152018	0.86[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs10152063	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10348	0.90[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs11156713	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs11156714	0.92[ASN][1000 genomes]
rs11156716	0.86[ASN][1000 genomes]
rs1129622	0.90[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs1129623	0.86[ASN][1000 genomes]
rs11627083	0.96[ASN][1000 genomes]
rs12432404	0.92[ASN][1000 genomes]
rs12435286	0.81[GIH][hapmap]
rs12589862	0.81[JPT][hapmap]
rs12878022	0.82[GIH][hapmap]
rs1572190	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1959072	0.86[ASN][1000 genomes]
rs2378970	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28639476	0.92[ASN][1000 genomes]
rs35943743	0.86[ASN][1000 genomes]
rs3742923	0.82[JPT][hapmap]
rs3825742	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.92[ASN][1000 genomes]
rs4981112	0.82[GIH][hapmap]
rs4981126	0.86[MEX][hapmap]
rs4981129	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4981130	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs4981132	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4981133	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4981134	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4981135	0.86[ASN][1000 genomes]
rs4981917	0.85[ASN][1000 genomes]
rs56020946	0.85[ASN][1000 genomes]
rs56208157	0.87[ASN][1000 genomes]
rs6571470	0.92[ASN][1000 genomes]
rs7140475	0.86[ASN][1000 genomes]
rs7141300	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7145749	0.91[MEX][hapmap]
rs7145823	0.89[GIH][hapmap]
rs7148271	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7158089	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7161280	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7161640	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8003582	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8005663	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8013469	0.85[ASN][1000 genomes]
rs8015328	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8015523	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8020037	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8021918	0.92[CEU][hapmap];0.90[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8022995	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8023131	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564180	chr14:31958566-32368934	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv564181	chr14:31958761-32363980	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv564182	chr14:32110519-32584337	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1046526	chr14:32110537-32567426	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv901593	chr14:32282564-32350371	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv526200	chr14:32308511-32454372	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1959071	ARHGAP5	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32250600-32322400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr14:32281800-32330200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr14:32291000-32310400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:32294200-32328800	Weak transcription	Ovary	ovary
5	chr14:32294800-32328000	Weak transcription	Left Ventricle	heart
6	chr14:32295000-32332800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:32297400-32325800	Weak transcription	Primary B cells from cord blood	blood
8	chr14:32298200-32322000	Weak transcription	Primary T cells from cord blood	blood
9	chr14:32299000-32325800	Weak transcription	Fetal Stomach	stomach
10	chr14:32304200-32319600	Weak transcription	HepG2	liver
11	chr14:32304400-32312200	Weak transcription	Esophagus	oesophagus
12	chr14:32304600-32312200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:32304600-32312400	Weak transcription	HUVEC	blood vessel
14	chr14:32305600-32309000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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