Variant report

Variant	rs4671070
Chromosome Location	chr2:64012860-64012861
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	chr2:64011878..64014104-chr2:64062875..64065366,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10166971	0.89[CHB][hapmap]
rs10175674	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.85[MKK][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10183479	0.86[MKK][hapmap];0.91[YRI][hapmap]
rs10209140	0.81[CHB][hapmap]
rs10865342	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10865344	1.00[YRI][hapmap]
rs1109027	0.83[CHD][hapmap]
rs11691987	0.86[MKK][hapmap];0.91[YRI][hapmap]
rs12988017	0.89[CHB][hapmap];0.84[MEX][hapmap]
rs12991311	0.92[YRI][hapmap]
rs12993544	0.89[CHB][hapmap]
rs13006124	0.92[YRI][hapmap]
rs13009774	0.89[CHB][hapmap]
rs17619012	0.83[ASN][1000 genomes]
rs17619717	0.85[YRI][hapmap]
rs17619753	1.00[YRI][hapmap]
rs2054120	0.82[ASN][1000 genomes]
rs2287361	0.89[CHB][hapmap]
rs36099158	0.89[CHB][hapmap];0.84[MEX][hapmap]
rs3934536	0.89[CHB][hapmap]
rs4075010	0.87[ASN][1000 genomes]
rs4538187	0.86[MKK][hapmap];1.00[YRI][hapmap]
rs4544421	0.89[CHB][hapmap]
rs4599090	0.89[CHB][hapmap]
rs4608501	0.83[EUR][1000 genomes]
rs4671072	0.89[CHB][hapmap];0.84[MEX][hapmap]
rs4671073	0.83[YRI][hapmap]
rs4671533	0.80[AMR][1000 genomes]
rs4671535	0.89[CHB][hapmap]
rs6546029	0.86[MKK][hapmap];0.91[YRI][hapmap]
rs6546030	0.91[YRI][hapmap]
rs6710230	0.91[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6715992	0.86[MKK][hapmap];0.91[YRI][hapmap]
rs6726257	0.92[YRI][hapmap]
rs6732746	0.86[MKK][hapmap]
rs6755646	0.85[MKK][hapmap];0.91[YRI][hapmap]
rs6757016	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72808216	0.96[ASN][1000 genomes]
rs72808218	0.94[ASN][1000 genomes]
rs7590399	0.88[MKK][hapmap];0.91[YRI][hapmap]
rs7597935	0.80[LWK][hapmap];1.00[YRI][hapmap]

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	nsv834242	chr2:63891249-64045617	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4671070	ITGB1BP3	trans	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63976400-64028600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:64008000-64018400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:64008200-64013600	Weak transcription	NHLF	lung
4	chr2:64008200-64016400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:64008400-64016600	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:64008600-64015200	Weak transcription	HSMM	muscle
7	chr2:64008800-64013600	Weak transcription	NHDF-Ad	bronchial
8	chr2:64009000-64017200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:64009200-64013600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:64009200-64016600	Weak transcription	Aorta	Aorta
11	chr2:64011000-64013000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:64011000-64016400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:64011200-64013000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:64011800-64020600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:64012000-64013000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:64012000-64013000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:64012400-64013000	Weak transcription	Adipose Nuclei	Adipose
18	chr2:64012400-64017600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr2:64012600-64016600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:64012600-64017200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr2:64012600-64018400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:64012800-64016400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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