Variant report

Variant	rs6428401
Chromosome Location	chr1:197414540-197414541
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:197407589..197409949-chr1:197413313..197415578,2	MCF-7	breast:
2	chr1:197411700..197415475-chr1:197416632..197421884,5	K562	blood:
3	chr1:197406975..197410030-chr1:197411436..197415376,3	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1022908	0.87[AMR][1000 genomes]
rs1033826	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10494753	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10801606	0.87[AMR][1000 genomes]
rs10922235	0.87[AMR][1000 genomes]
rs12089070	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1421390	0.87[AMR][1000 genomes]
rs1421391	0.87[AMR][1000 genomes]
rs1421394	0.87[AMR][1000 genomes]
rs1570412	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1570413	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1592707	0.87[AMR][1000 genomes]
rs1592708	0.87[AMR][1000 genomes]
rs16841475	1.00[ASN][1000 genomes]
rs1923758	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1923761	0.82[AFR][1000 genomes]
rs1923763	0.82[AFR][1000 genomes]
rs1951697	0.82[AFR][1000 genomes]
rs1998433	0.87[AMR][1000 genomes]
rs2146484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2146485	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2160967	0.87[AMR][1000 genomes]
rs2181373	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2359119	0.87[AMR][1000 genomes]
rs2476022	0.82[AFR][1000 genomes]
rs2494272	0.82[AFR][1000 genomes]
rs2759660	0.82[AFR][1000 genomes]
rs2821099	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2821100	0.82[AFR][1000 genomes]
rs3888104	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs3902057	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4244150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4335404	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4428919	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4989560	0.87[AMR][1000 genomes]
rs6428402	0.87[AMR][1000 genomes]
rs6428405	0.87[AMR][1000 genomes]
rs6428406	0.87[AMR][1000 genomes]
rs6656674	0.87[AMR][1000 genomes]
rs6664766	0.87[AMR][1000 genomes]
rs6670147	0.87[AMR][1000 genomes]
rs6678776	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6684593	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6686241	0.87[AMR][1000 genomes]
rs6689739	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6691940	0.87[AMR][1000 genomes]
rs6694254	0.87[AMR][1000 genomes]
rs7514167	0.87[AMR][1000 genomes]
rs7515749	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7525737	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7530158	0.87[AMR][1000 genomes]
rs927511	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs942050	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs980370	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs980371	0.86[AFR][1000 genomes];0.87[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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197410200-197417000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:197411800-197432000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:197412000-197433200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:197412200-197420200	Weak transcription	Hela-S3	cervix
5	chr1:197413600-197414600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:197413800-197414800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:197414000-197414600	Enhancers	Ovary	ovary
8	chr1:197414200-197414600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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