Variant report

Variant	rs2800859
Chromosome Location	chr1:222182588-222182589
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:221915932..221916628-chr1:222182306..222183086,2	MCF-7	breast:
2	chr1:221804697..221805537-chr1:222182197..222182723,2	MCF-7	breast:
3	chr1:221914275..221916996-chr1:222181914..222184462,2	MCF-7	breast:
4	chr1:221651148..221651987-chr1:222182537..222183210,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143507	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12117316	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12120736	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12122410	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12126368	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12129517	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12136244	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12137305	0.88[EUR][1000 genomes]
rs12137800	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139468	0.94[YRI][hapmap]
rs12140406	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1339869	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011253	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2153352	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2185327	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2378497	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2378498	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2790762	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2800860	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970199	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3121626	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5013041	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55756813	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56054113	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56236427	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61823896	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61823902	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61823903	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61823905	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs996854	0.97[EUR][1000 genomes]

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	nsv1014333	chr1:222131785-222245578	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222169200-222184000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:222181000-222183200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:222181400-222182600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:222181400-222182600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:222181800-222182600	Enhancers	Psoas Muscle	Psoas
6	chr1:222181800-222182800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:222181800-222182800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:222182200-222182600	Enhancers	Primary B cells from peripheral blood	blood
9	chr1:222182200-222182600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:222182400-222182600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr1:222182400-222182600	Enhancers	Thymus	Thymus
12	chr1:222182400-222182800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:222182400-222183000	Enhancers	Adipose Nuclei	Adipose
14	chr1:222182400-222183200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:222182400-222183200	Enhancers	NHDF-Ad	bronchial
16	chr1:222182400-222184000	Enhancers	Osteobl	bone

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