Variant report

Variant	rs12173703
Chromosome Location	chr8:39560405-39560406
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10948498	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11757098	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12175251	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16879241	0.84[EUR][1000 genomes]
rs17805348	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1924982	0.84[EUR][1000 genomes]
rs28841337	0.83[EUR][1000 genomes]
rs471220	0.84[EUR][1000 genomes]
rs471316	0.83[EUR][1000 genomes]
rs471332	0.84[EUR][1000 genomes]
rs472313	0.81[EUR][1000 genomes]
rs474897	0.81[EUR][1000 genomes]
rs475757	0.84[EUR][1000 genomes]
rs478550	0.84[EUR][1000 genomes]
rs481270	0.84[EUR][1000 genomes]
rs482582	0.83[EUR][1000 genomes]
rs482930	0.82[EUR][1000 genomes]
rs483192	0.84[EUR][1000 genomes]
rs484942	0.84[EUR][1000 genomes]
rs485383	0.84[EUR][1000 genomes]
rs485474	0.84[EUR][1000 genomes]
rs485772	0.84[EUR][1000 genomes]
rs485976	0.84[EUR][1000 genomes]
rs495303	0.84[EUR][1000 genomes]
rs495525	0.80[EUR][1000 genomes]
rs496864	0.84[EUR][1000 genomes]
rs498825	0.84[EUR][1000 genomes]
rs500811	0.82[EUR][1000 genomes]
rs501835	0.84[EUR][1000 genomes]
rs503680	0.84[EUR][1000 genomes]
rs512497	0.84[EUR][1000 genomes]
rs520470	0.84[EUR][1000 genomes]
rs520599	0.84[EUR][1000 genomes]
rs527399	0.82[EUR][1000 genomes]
rs529464	0.83[EUR][1000 genomes]
rs530156	0.83[EUR][1000 genomes]
rs530458	0.84[EUR][1000 genomes]
rs532017	0.84[EUR][1000 genomes]
rs532756	0.82[EUR][1000 genomes]
rs532785	0.84[EUR][1000 genomes]
rs537190	0.84[EUR][1000 genomes]
rs538016	0.84[EUR][1000 genomes]
rs539026	0.84[EUR][1000 genomes]
rs540164	0.84[EUR][1000 genomes]
rs543305	0.81[EUR][1000 genomes]
rs543805	0.82[EUR][1000 genomes]
rs544542	0.82[EUR][1000 genomes]
rs545472	0.84[EUR][1000 genomes]
rs547757	0.84[EUR][1000 genomes]
rs548644	0.84[EUR][1000 genomes]
rs549464	0.84[EUR][1000 genomes]
rs551459	0.81[EUR][1000 genomes]
rs553437	0.84[EUR][1000 genomes]
rs555134	0.82[EUR][1000 genomes]
rs556711	0.84[EUR][1000 genomes]
rs556807	0.84[EUR][1000 genomes]
rs562369	0.84[EUR][1000 genomes]
rs563271	0.82[EUR][1000 genomes]
rs564042	0.84[EUR][1000 genomes]
rs568369	0.84[EUR][1000 genomes]
rs568563	0.84[EUR][1000 genomes]
rs569142	0.84[EUR][1000 genomes]
rs575461	0.84[EUR][1000 genomes]
rs577530	0.84[EUR][1000 genomes]
rs579712	0.82[EUR][1000 genomes]
rs6902604	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6902615	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6903158	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6922862	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6923065	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6927463	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6935826	0.81[EUR][1000 genomes]
rs72869253	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72870365	0.84[EUR][1000 genomes]
rs7450140	0.82[EUR][1000 genomes]
rs7764755	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9349492	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9357610	0.84[EUR][1000 genomes]
rs9357612	0.82[EUR][1000 genomes]
rs9367355	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9369884	0.82[EUR][1000 genomes]
rs9369886	0.84[EUR][1000 genomes]
rs9369902	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9381766	0.82[EUR][1000 genomes]
rs9381767	0.84[EUR][1000 genomes]
rs9395477	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015907	chr8:38967169-39718559	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv539550	chr8:38967169-39718559	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2759608	chr8:39174279-39597639	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv890725	chr8:39212435-39587864	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv2758154	chr8:39245798-39597639	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1021340	chr8:39268667-39577905	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv890830	chr8:39378400-39575853	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv890833	chr8:39405337-39664696	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv890834	chr8:39429071-39586358	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv890836	chr8:39480366-39650940	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv890837	chr8:39507869-39609626	Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1017740	chr8:39511974-39586376	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv1033943	chr8:39515917-39577905	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv522716	chr8:39522613-39594979	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv890838	chr8:39525174-39586358	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv890839	chr8:39553261-39664696	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12173703	MUT	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39559400-39566200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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