Variant report

Variant	rs1228875
Chromosome Location	chr7:84020366-84020367
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:84014466..84016312-chr7:84018261..84020736,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10255354	0.81[EUR][1000 genomes]
rs11973476	0.80[EUR][1000 genomes]
rs1228859	0.94[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1228860	0.95[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1228866	0.87[EUR][1000 genomes]
rs1228867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1228868	0.85[EUR][1000 genomes]
rs1228876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1228878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1228879	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1228880	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1228882	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1228883	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1228939	0.95[CEU][hapmap]
rs1228943	0.82[EUR][1000 genomes]
rs1228944	0.81[EUR][1000 genomes]
rs1228945	0.82[EUR][1000 genomes]
rs1228947	0.82[EUR][1000 genomes]
rs1228949	0.81[EUR][1000 genomes]
rs1228950	0.81[EUR][1000 genomes]
rs1228951	0.80[EUR][1000 genomes]
rs1228952	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1228953	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1228954	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1228956	0.82[EUR][1000 genomes]
rs1228958	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1228959	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1228961	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1228963	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1228966	0.80[EUR][1000 genomes]
rs1234535	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1234538	0.81[EUR][1000 genomes]
rs13227369	0.83[EUR][1000 genomes]
rs13238916	0.81[EUR][1000 genomes]
rs1557791	0.85[EUR][1000 genomes]
rs1634605	0.82[EUR][1000 genomes]
rs1634614	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1715510	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1733998	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1733999	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1974512	0.81[EUR][1000 genomes]
rs1987325	0.81[EUR][1000 genomes]
rs2106965	0.85[EUR][1000 genomes]
rs2158169	0.82[EUR][1000 genomes]
rs2214362	0.80[EUR][1000 genomes]
rs2372453	0.82[EUR][1000 genomes]
rs2428807	0.80[EUR][1000 genomes]
rs2428808	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2527528	0.82[EUR][1000 genomes]
rs2888321	0.82[EUR][1000 genomes]
rs4728554	0.81[EUR][1000 genomes]
rs4732549	0.81[EUR][1000 genomes]
rs505758	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs519663	0.81[EUR][1000 genomes]
rs530698	0.87[EUR][1000 genomes]
rs539643	0.81[EUR][1000 genomes]
rs540454	0.81[EUR][1000 genomes]
rs549975	0.81[EUR][1000 genomes]
rs561955	0.86[EUR][1000 genomes]
rs568973	0.81[EUR][1000 genomes]
rs577142	0.83[EUR][1000 genomes]
rs607120	0.81[EUR][1000 genomes]
rs608459	0.81[EUR][1000 genomes]
rs609308	0.81[EUR][1000 genomes]
rs611442	0.81[EUR][1000 genomes]
rs611503	0.81[EUR][1000 genomes]
rs612856	0.81[EUR][1000 genomes]
rs613335	0.81[EUR][1000 genomes]
rs620892	0.82[EUR][1000 genomes]
rs621903	0.81[EUR][1000 genomes]
rs62474863	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs625480	0.87[EUR][1000 genomes]
rs7789787	0.81[EUR][1000 genomes]
rs7808081	0.81[EUR][1000 genomes]
rs916865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs961201	0.81[EUR][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	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv2754468	chr7:83851249-84166749	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1023848	chr7:83985028-84101774	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2761342	chr7:83985028-84101798	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv534431	chr7:84001059-84138511	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1228875	SEMA3C	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84015800-84023000	Weak transcription	NHDF-Ad	bronchial
2	chr7:84019800-84020600	Enhancers	Fetal Lung	lung

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