Variant report

Variant	rs2122147
Chromosome Location	chr3:158954646-158954647
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:158949275..158950779-chr3:158953655..158955845,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10470473	0.81[EUR][1000 genomes]
rs10513537	0.81[EUR][1000 genomes]
rs10936173	0.80[EUR][1000 genomes]
rs11924990	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1449021	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17727250	0.81[EUR][1000 genomes]
rs1868414	0.98[ASN][1000 genomes]
rs2365483	0.80[EUR][1000 genomes]
rs2365490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6441253	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6781221	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs720397	1.00[ASN][1000 genomes]
rs7630467	0.86[ASN][1000 genomes]
rs7639623	0.97[ASN][1000 genomes]
rs9820047	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9823142	0.83[ASN][1000 genomes]
rs9827242	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9827400	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9829189	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9831067	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9834328	0.83[ASN][1000 genomes]
rs9839112	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9840972	0.81[EUR][1000 genomes]
rs9852196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9862769	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9878883	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530059	chr3:158332590-159147549	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv470971	chr3:158590928-159158217	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv3426016	chr3:158676623-158979242	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv998949	chr3:158774806-159394550	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1012602	chr3:158800182-159031618	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158952000-158957400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:158952800-158955200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:158952800-158956000	Weak transcription	NHLF	lung
4	chr3:158953400-158957600	Enhancers	HSMMtube	muscle
5	chr3:158953600-158957800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:158954000-158955200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:158954000-158957800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr3:158954200-158954800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:158954200-158955000	Enhancers	HSMM	muscle
10	chr3:158954200-158955200	Enhancers	NH-A	brain
11	chr3:158954200-158955200	Enhancers	Osteobl	bone
12	chr3:158954200-158955400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:158954200-158955400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr3:158954400-158954800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:158954400-158955400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:158954400-158957600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:158954600-158955600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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