Variant report

Variant	rs4710176
Chromosome Location	chr6:167491639-167491640
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10455982	0.82[AMR][1000 genomes]
rs10484530	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10484531	0.83[AMR][1000 genomes]
rs1060404	0.82[AMR][1000 genomes]
rs10946203	0.82[AMR][1000 genomes]
rs10946204	0.82[AMR][1000 genomes]
rs10946205	0.82[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10946207	0.82[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10946208	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1130033	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs12178491	0.85[EUR][1000 genomes]
rs12193698	0.83[EUR][1000 genomes]
rs12203510	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12208359	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12209395	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12212247	0.82[AMR][1000 genomes]
rs12213683	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12523712	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12526548	0.82[CEU][hapmap]
rs12527827	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12528323	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12528689	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12529238	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12529876	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12529959	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13199692	0.83[EUR][1000 genomes]
rs13204839	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13208636	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13210649	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13213249	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1358882	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1358883	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1407315	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17524252	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17615336	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1810644	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1810645	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1894603	0.82[CEU][hapmap]
rs1951459	0.82[ASN][1000 genomes]
rs2001114	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2001115	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2017338	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2038580	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs204295	0.97[ASN][1000 genomes]
rs2181058	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2181059	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2237272	0.82[AMR][1000 genomes]
rs2237273	0.83[CEU][hapmap]
rs2237277	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2239823	0.83[EUR][1000 genomes]
rs2239826	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2239827	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2282860	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2282861	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2285147	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2285148	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2301436	0.82[CEU][hapmap]
rs239933	0.81[ASN][1000 genomes]
rs3752520	0.82[AMR][1000 genomes]
rs393727	0.84[JPT][hapmap]
rs4710171	0.82[AMR][1000 genomes]
rs4710175	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62436765	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6456143	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6456149	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6456150	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6456151	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6456152	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6456153	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6456154	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6902119	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6907666	0.91[CHB][hapmap]
rs6909180	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6909475	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6909502	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6918286	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6920858	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6921588	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6925969	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6932740	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6934043	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6936261	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6941355	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs720325	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7742305	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7748224	0.92[EUR][1000 genomes]
rs7749278	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7760495	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7761977	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7762156	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7766242	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs911632	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs916331	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9295384	0.83[CEU][hapmap]
rs933243	0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs9347170	0.91[CHB][hapmap];0.96[JPT][hapmap];0.82[ASN][1000 genomes]
rs9355610	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs9366078	0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs9457252	0.82[AMR][1000 genomes]
rs9457256	0.82[AMR][1000 genomes]
rs9457257	0.83[CEU][hapmap]
rs9457258	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9457259	0.81[AMR][1000 genomes]
rs9457260	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9457261	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9457268	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9457270	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9459835	0.83[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9459836	0.82[AMR][1000 genomes]
rs9459838	0.81[AMR][1000 genomes]
rs9459842	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9459846	0.83[CEU][hapmap]
rs9459849	0.82[AMR][1000 genomes]
rs9459853	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9459854	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9459855	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9459862	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9459871	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9459872	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9459874	0.82[AMR][1000 genomes];0.91[EUR][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	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
4	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1031039	chr6:167324021-167741439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
6	nsv538543	chr6:167324021-167741439	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1026972	chr6:167335031-167671042	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
8	nsv464140	chr6:167426681-167492552	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv886943	chr6:167440244-167502638	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv2752099	chr6:167448181-167579102	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	esv1838869	chr6:167488211-167492552	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv1841284	chr6:167488211-167492552	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv1842395	chr6:167488211-167492552	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv1018193	chr6:167491589-167797294	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv538544	chr6:167491589-167797294	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4710176	AL133458.1	cis	Whole Blood	GTEx
rs4710176	RNASET2	cis	Whole Blood	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167487000-167494400	Enhancers	Primary B cells from peripheral blood	blood
2	chr6:167487400-167492600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:167487600-167492400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:167489200-167492200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:167490000-167492600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr6:167490200-167495600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:167491000-167492800	Enhancers	GM12878-XiMat	blood
8	chr6:167491000-167494400	Enhancers	Primary B cells from cord blood	blood
9	chr6:167491200-167491800	Flanking Active TSS	HepG2	liver
10	chr6:167491400-167492200	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:167491600-167492400	Enhancers	Spleen	Spleen
12	chr6:167491600-167493200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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