Variant report

Variant	rs4428919
Chromosome Location	chr1:197423659-197423660
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1022908	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1024920	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1033826	0.87[AMR][1000 genomes]
rs10494753	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10494759	1.00[CHB][hapmap]
rs10754226	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10801606	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10922235	0.87[AMR][1000 genomes]
rs12089070	1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1362940	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1421390	0.87[AMR][1000 genomes]
rs1421391	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1421394	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1570412	0.87[AMR][1000 genomes]
rs1570413	0.87[AMR][1000 genomes]
rs1592707	0.87[AMR][1000 genomes]
rs1592708	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1862011	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1923758	0.87[AMR][1000 genomes]
rs1923763	0.80[YRI][hapmap]
rs1951697	0.81[YRI][hapmap]
rs1998433	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2146484	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2146485	0.80[YRI][hapmap];0.87[AMR][1000 genomes]
rs2160967	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2160968	1.00[ASN][1000 genomes]
rs2181373	0.87[AMR][1000 genomes]
rs2359119	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2476017	0.81[YRI][hapmap]
rs2759660	0.81[YRI][hapmap]
rs2821099	0.87[AMR][1000 genomes]
rs3888104	0.81[YRI][hapmap];0.87[AMR][1000 genomes]
rs3902057	0.87[AMR][1000 genomes]
rs4244150	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4335404	0.81[YRI][hapmap];0.87[AMR][1000 genomes]
rs4915243	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4989560	0.87[AMR][1000 genomes]
rs6428401	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6428402	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6428403	1.00[ASN][1000 genomes]
rs6428405	0.87[AMR][1000 genomes]
rs6428406	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6428408	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6656674	0.87[AMR][1000 genomes]
rs6664766	0.87[AMR][1000 genomes]
rs6670147	0.87[AMR][1000 genomes]
rs6678240	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6678776	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6684593	0.87[AMR][1000 genomes]
rs6686241	0.87[AMR][1000 genomes]
rs6689739	0.87[AMR][1000 genomes]
rs6691940	0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6694254	0.87[AMR][1000 genomes]
rs73073604	1.00[ASN][1000 genomes]
rs7514167	0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7515671	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7515749	0.81[YRI][hapmap];0.87[AMR][1000 genomes]
rs7525737	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7530158	0.87[AMR][1000 genomes]
rs927511	0.87[AMR][1000 genomes]
rs942050	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs980370	0.87[AMR][1000 genomes]
rs980371	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1014039	chr1:197311285-197529212	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3365181	chr1:197422079-197424127	Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197411800-197432000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:197412000-197433200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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