Variant report

Variant	rs2195114
Chromosome Location	chr2:145463764-145463765
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145463087..145468064-chr2:145468500..145471116,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARHGAP15-16	chr2:145456944-145465439	NONHSAT074810

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10200647	0.98[ASN][1000 genomes]
rs10203655	0.98[ASN][1000 genomes]
rs10205995	0.87[ASN][1000 genomes]
rs10432351	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10496966	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10803510	0.83[JPT][hapmap]
rs10928224	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10928225	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10928226	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10928227	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11674690	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11679253	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11883829	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap]
rs11900456	0.96[ASN][1000 genomes]
rs11902294	0.93[CHB][hapmap];0.89[JPT][hapmap]
rs12104619	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12471698	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12478142	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12611966	0.88[ASN][1000 genomes]
rs12623452	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs12991932	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12997597	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13003467	0.98[ASN][1000 genomes]
rs13008442	0.88[ASN][1000 genomes]
rs13015001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.93[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13016064	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13032840	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13413613	0.87[ASN][1000 genomes]
rs1346344	0.83[JPT][hapmap]
rs1351734	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1365902	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1365905	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1384779	0.88[ASN][1000 genomes]
rs1384783	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1427500	0.83[JPT][hapmap]
rs1427507	0.83[JPT][hapmap]
rs1427509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1483491	0.96[CEU][hapmap];0.92[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1483499	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1529386	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1529387	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1559961	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1559962	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1564697	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.93[MEX][hapmap];0.97[MKK][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1896453	0.93[ASN][1000 genomes]
rs1896454	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1905347	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1994155	0.88[ASN][1000 genomes]
rs2086748	0.89[ASN][1000 genomes]
rs2162571	0.83[JPT][hapmap]
rs2195115	0.94[ASN][1000 genomes]
rs2254435	0.99[ASN][1000 genomes]
rs2381651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35099259	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs3856364	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4271712	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4458150	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4471836	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4662231	0.87[ASN][1000 genomes]
rs4662232	0.96[CEU][hapmap];0.92[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.93[MEX][hapmap];0.85[MKK][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4662393	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61440197	0.90[ASN][1000 genomes]
rs6707047	0.97[ASN][1000 genomes]
rs6728198	0.97[ASN][1000 genomes]
rs6745079	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs72991962	0.90[ASN][1000 genomes]
rs7575857	0.87[ASN][1000 genomes]
rs7579453	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580571	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs900554	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.86[MEX][hapmap];0.97[MKK][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs958500	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs958501	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs980772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs990847	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv529501	chr2:145257682-145485605	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv834397	chr2:145439528-145608628	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2195114	RNF34	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145450400-145469200	Weak transcription	Aorta	Aorta
2	chr2:145457200-145464600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:145458600-145464400	Enhancers	Primary hematopoietic stem cells	blood
4	chr2:145459600-145463800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:145461200-145463800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:145462200-145465400	Weak transcription	NHDF-Ad	bronchial
7	chr2:145462400-145463800	Enhancers	Primary B cells from cord blood	blood
8	chr2:145462800-145463800	Weak transcription	A549	lung
9	chr2:145463200-145465200	Enhancers	Dnd41	blood
10	chr2:145463200-145469600	Weak transcription	HSMMtube	muscle
11	chr2:145463200-145495600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:145463400-145463800	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr2:145463400-145465400	Weak transcription	K562	blood
14	chr2:145463600-145464800	Weak transcription	HSMM	muscle

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