Variant report

Variant	rs2504634
Chromosome Location	chr6:77088987-77088988
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs1038750	0.93[EUR][1000 genomes]
rs10455318	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11970502	0.91[EUR][1000 genomes]
rs12194233	0.85[EUR][1000 genomes]
rs12207018	0.89[EUR][1000 genomes]
rs12216458	0.80[EUR][1000 genomes]
rs12527444	0.81[EUR][1000 genomes]
rs13193039	0.85[EUR][1000 genomes]
rs13195534	0.80[EUR][1000 genomes]
rs13218458	0.83[EUR][1000 genomes]
rs13218818	0.83[EUR][1000 genomes]
rs1385897	0.81[EUR][1000 genomes]
rs1385898	0.82[EUR][1000 genomes]
rs1387842	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1387843	0.94[EUR][1000 genomes]
rs1387851	0.93[EUR][1000 genomes]
rs1486043	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1486048	0.85[EUR][1000 genomes]
rs1486050	0.82[EUR][1000 genomes]
rs1486051	0.82[EUR][1000 genomes]
rs1490209	0.92[EUR][1000 genomes]
rs1490210	0.92[EUR][1000 genomes]
rs1490213	0.93[EUR][1000 genomes]
rs1490220	0.92[EUR][1000 genomes]
rs1532134	0.93[EUR][1000 genomes]
rs1825653	0.82[EUR][1000 genomes]
rs1843572	0.89[EUR][1000 genomes]
rs1844553	0.89[EUR][1000 genomes]
rs1960557	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1994334	0.82[EUR][1000 genomes]
rs2029148	0.85[EUR][1000 genomes]
rs2029149	0.85[EUR][1000 genomes]
rs2029150	0.85[EUR][1000 genomes]
rs2101563	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2314706	0.85[EUR][1000 genomes]
rs2314707	0.85[EUR][1000 genomes]
rs2451594	0.96[CEU][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2504986	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2504987	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3123639	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4088862	0.91[EUR][1000 genomes]
rs4267921	0.81[EUR][1000 genomes]
rs4267922	0.81[EUR][1000 genomes]
rs4337905	0.80[EUR][1000 genomes]
rs4386775	0.85[EUR][1000 genomes]
rs4478374	0.81[EUR][1000 genomes]
rs4493724	0.81[EUR][1000 genomes]
rs4562099	0.85[EUR][1000 genomes]
rs4583941	0.95[EUR][1000 genomes]
rs4706606	0.82[EUR][1000 genomes]
rs4706607	0.82[EUR][1000 genomes]
rs4706618	0.94[EUR][1000 genomes]
rs4708234	0.82[EUR][1000 genomes]
rs4708235	0.82[EUR][1000 genomes]
rs4708236	0.95[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs4708267	0.94[EUR][1000 genomes]
rs5009482	0.93[EUR][1000 genomes]
rs62430437	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6453899	0.93[EUR][1000 genomes]
rs6453900	0.93[EUR][1000 genomes]
rs6903382	0.94[EUR][1000 genomes]
rs6907510	0.92[EUR][1000 genomes]
rs6908025	0.94[EUR][1000 genomes]
rs6918707	0.93[EUR][1000 genomes]
rs6924853	0.93[EUR][1000 genomes]
rs6928036	0.94[EUR][1000 genomes]
rs6928328	0.93[EUR][1000 genomes]
rs7745942	0.80[EUR][1000 genomes]
rs7754981	0.94[EUR][1000 genomes]
rs7773888	0.80[EUR][1000 genomes]
rs867868	0.95[EUR][1000 genomes]
rs923553	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9341581	0.81[EUR][1000 genomes]
rs9343382	0.86[EUR][1000 genomes]
rs9343441	0.93[EUR][1000 genomes]
rs9343442	0.95[EUR][1000 genomes]
rs9343463	0.80[EUR][1000 genomes]
rs9350626	0.89[EUR][1000 genomes]
rs9350655	0.94[EUR][1000 genomes]
rs9350660	0.92[EUR][1000 genomes]
rs9352276	0.82[EUR][1000 genomes]
rs9352277	0.85[EUR][1000 genomes]
rs9352278	0.85[EUR][1000 genomes]
rs9352325	0.95[EUR][1000 genomes]
rs9352336	0.94[EUR][1000 genomes]
rs9359202	0.93[EUR][1000 genomes]
rs9361057	0.95[EUR][1000 genomes]
rs9443242	0.91[CEU][hapmap];0.82[CHB][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs9443251	0.80[EUR][1000 genomes]
rs9447697	0.93[EUR][1000 genomes]
rs9447698	0.93[EUR][1000 genomes]
rs9447726	0.80[EUR][1000 genomes]
rs990578	0.85[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	nsv932201	chr6:76365548-77219650	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1028764	chr6:76870971-77145573	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv886195	chr6:76999513-77097008	Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1848720	chr6:76999513-77100253	Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv886201	chr6:77016346-77097008	Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1831068	chr6:77016346-77100461	Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv1828804	chr6:77018159-77100198	Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv1830609	chr6:77018159-77100253	Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1833338	chr6:77018159-77100461	Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1842856	chr6:77018159-77100461	Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1848102	chr6:77018159-77100461	Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv1816554	chr6:77027034-77100253	ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv603775	chr6:77070690-77157446	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	inside rSNPs	diseases
14	nsv5358	chr6:77072931-77109263	Enhancers	n/a	n/a	inside rSNPs	diseases
15	nsv603776	chr6:77088201-77100253	Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2504634	KCNQ5	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:77088800-77089200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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