Variant report

Variant	rs10167554
Chromosome Location	chr2:100220708-100220709
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100210613..100213284-chr2:100220090..100221872,2	MCF-7	breast:
2	chr2:100219395..100221538-chr2:100225234..100227761,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11123790	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11684088	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12620982	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12712049	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12712054	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13029690	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1357719	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1996984	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2030691	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2030692	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2030693	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2049400	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2177541	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2177542	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3792129	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3792130	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3792131	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4850910	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4851220	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4851221	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6542884	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6738724	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6745568	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7579222	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9284724	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9308826	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9308827	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9678859	0.83[AMR][1000 genomes];0.91[EUR][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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100203200-100221400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:100203400-100221200	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:100204000-100221800	Weak transcription	Adipose Nuclei	Adipose
4	chr2:100210600-100224200	Weak transcription	Brain Germinal Matrix	brain
5	chr2:100211000-100234200	Weak transcription	Thymus	Thymus
6	chr2:100211000-100249600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:100212800-100221400	Weak transcription	Ovary	ovary
8	chr2:100215400-100232000	Weak transcription	Lung	lung
9	chr2:100217000-100258400	Weak transcription	Primary T cells from cord blood	blood
10	chr2:100218200-100226400	Weak transcription	Right Atrium	heart
11	chr2:100218200-100229200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:100218200-100241400	Weak transcription	Spleen	Spleen
13	chr2:100218800-100221400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:100218800-100224200	Weak transcription	Fetal Brain Female	brain
15	chr2:100219200-100225000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr2:100219600-100220800	Weak transcription	Fetal Brain Male	brain
17	chr2:100219600-100221200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:100219600-100221200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:100219600-100221200	Weak transcription	Osteobl	bone
20	chr2:100219600-100221400	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:100219600-100223600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:100219800-100221200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:100219800-100221200	Weak transcription	NHDF-Ad	bronchial
24	chr2:100219800-100221400	Weak transcription	Fetal Lung	lung
25	chr2:100219800-100224000	Weak transcription	Primary B cells from cord blood	blood
26	chr2:100219800-100224400	Weak transcription	HSMMtube	muscle
27	chr2:100220400-100223400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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