Variant report

Variant	rs2707983
Chromosome Location	chr3:142604587-142604588
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142591058..142593405-chr3:142604358..142606915,2	K562	blood:
2	chr3:142545978..142547931-chr3:142603627..142606168,2	MCF-7	breast:
3	chr3:142595372..142597780-chr3:142602919..142604925,3	K562	blood:
4	chr3:142603294..142604876-chr3:142607972..142609821,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240950	Chromatin interaction
ENSG00000163710	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1036691	0.95[EUR][1000 genomes]
rs1457684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1463559	0.95[EUR][1000 genomes]
rs2125125	0.81[CEU][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];0.84[MEX][hapmap];0.96[TSI][hapmap];0.91[EUR][1000 genomes]
rs2581619	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.96[TSI][hapmap];0.95[EUR][1000 genomes]
rs2581620	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes]
rs2581629	0.95[EUR][1000 genomes]
rs2581635	0.96[EUR][1000 genomes]
rs2581636	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2581637	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2608070	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608078	0.95[EUR][1000 genomes]
rs2608079	0.95[EUR][1000 genomes]
rs2619147	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs2707973	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2707975	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2707977	0.82[CEU][hapmap]
rs2707985	0.87[CEU][hapmap];0.88[GIH][hapmap];0.82[JPT][hapmap];0.96[TSI][hapmap];0.91[EUR][1000 genomes]
rs2707991	0.95[EUR][1000 genomes]
rs2707996	0.95[EUR][1000 genomes]
rs4683435	0.95[EUR][1000 genomes]
rs6778732	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7648216	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9824548	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs984593	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs984594	0.82[CEU][hapmap];0.81[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142583000-142605000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:142586000-142606600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr3:142590600-142606000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:142596400-142605400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:142601000-142606000	Weak transcription	Right Atrium	heart
6	chr3:142603200-142605600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:142603400-142605800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:142603400-142607000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:142603600-142607000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:142603800-142605600	Enhancers	Adipose Nuclei	Adipose
11	chr3:142604000-142604600	Enhancers	Left Ventricle	heart
12	chr3:142604000-142605400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:142604000-142606600	Weak transcription	Liver	Liver
14	chr3:142604200-142605000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr3:142604200-142605400	Strong transcription	A549	lung
16	chr3:142604200-142605800	Enhancers	K562	blood
17	chr3:142604400-142604600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr3:142604400-142604800	Enhancers	Right Ventricle	heart
19	chr3:142604400-142606600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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