Variant report

Variant	rs2450064
Chromosome Location	chr8:120097144-120097145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120096968..120103471-chr8:120218555..120222838,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147676	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1158945	0.83[CEU][hapmap];0.90[ASN][1000 genomes]
rs11994775	0.90[ASN][1000 genomes]
rs13259300	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1351952	0.83[CEU][hapmap];0.90[ASN][1000 genomes]
rs1364708	0.83[CEU][hapmap]
rs1385491	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1385493	0.99[ASN][1000 genomes]
rs1485290	0.88[CEU][hapmap]
rs1485291	0.88[CEU][hapmap]
rs1485292	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs1485293	0.96[CEU][hapmap]
rs1485294	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1485299	0.88[CEU][hapmap]
rs1549415	0.83[CEU][hapmap]
rs1905774	0.87[CEU][hapmap]
rs1905775	0.96[CEU][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2450060	0.82[CEU][hapmap]
rs2450063	0.87[CEU][hapmap]
rs2450065	0.96[CEU][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450067	0.96[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450068	0.96[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450069	0.96[CEU][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450071	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2450073	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2450074	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2450077	0.91[CEU][hapmap]
rs2450079	0.87[CEU][hapmap]
rs2465370	0.83[CEU][hapmap]
rs2465392	0.88[CEU][hapmap];0.91[ASN][1000 genomes]
rs2465403	0.96[CEU][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2465404	1.00[CEU][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2468171	0.90[CEU][hapmap]
rs4279627	0.83[CEU][hapmap]
rs7386676	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3418988	chr8:120096863-120097406	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120095600-120098600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:120095600-120098600	Weak transcription	Liver	Liver
3	chr8:120095600-120098600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:120095600-120098600	Weak transcription	Fetal Lung	lung
5	chr8:120095800-120098200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:120095800-120099000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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