Variant report

Variant	rs6691940
Chromosome Location	chr1:197428167-197428168
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197416955..197418851-chr1:197427977..197431024,3	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1022908	1.00[AMR][1000 genomes]
rs1033826	0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10494753	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10801606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10922235	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12089070	0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1421390	1.00[AMR][1000 genomes]
rs1421391	1.00[AMR][1000 genomes]
rs1421394	1.00[AMR][1000 genomes]
rs1570412	0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1570413	0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1592707	1.00[AMR][1000 genomes]
rs1592708	1.00[AMR][1000 genomes]
rs1923758	0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1923760	0.96[YRI][hapmap]
rs1923761	0.87[AFR][1000 genomes]
rs1923763	0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs1951697	0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1998433	1.00[AMR][1000 genomes]
rs2146484	0.87[YRI][hapmap];0.87[AMR][1000 genomes]
rs2146485	0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2160967	1.00[AMR][1000 genomes]
rs2181373	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2256222	0.89[YRI][hapmap]
rs2359119	0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2476016	0.83[AFR][1000 genomes]
rs2476017	0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs2476018	0.89[YRI][hapmap]
rs2476022	0.87[AFR][1000 genomes]
rs2494272	0.87[AFR][1000 genomes]
rs2759660	0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs2821099	0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2821100	0.87[AFR][1000 genomes]
rs2821105	0.89[YRI][hapmap]
rs3888104	0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3902057	0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4244150	0.85[YRI][hapmap];0.87[AMR][1000 genomes]
rs4335404	0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4428919	0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4989560	1.00[AMR][1000 genomes]
rs6428401	0.87[AMR][1000 genomes]
rs6428402	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6428403	0.87[AMR][1000 genomes]
rs6428405	1.00[AMR][1000 genomes]
rs6428406	1.00[AMR][1000 genomes]
rs6656674	1.00[AMR][1000 genomes]
rs6664766	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6670147	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6678776	0.87[AMR][1000 genomes]
rs6684593	0.96[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6686241	1.00[AMR][1000 genomes]
rs6689739	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6690015	0.87[AMR][1000 genomes]
rs6694254	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7514167	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7515749	0.96[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7525737	0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7530158	1.00[AMR][1000 genomes]
rs927511	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs942050	0.86[YRI][hapmap];0.87[AMR][1000 genomes]
rs9427667	0.80[AFR][1000 genomes]
rs980370	0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs980371	0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:5 , 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
3	chr1:197427800-197433200	Weak transcription	Right Atrium	heart
4	chr1:197428000-197428400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:197428000-197432000	Weak transcription	Ovary	ovary

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