Variant report

Variant	rs13412448
Chromosome Location	chr2:189471825-189471826
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:189471791..189474252-chr2:189714705..189717023,2	MCF-7	breast:
2	chr2:189470555..189473256-chr2:189645948..189648747,2	MCF-7	breast:
3	chr2:189461232..189465911-chr2:189467782..189472229,8	MCF-7	breast:
4	chr2:189468993..189472398-chr2:189841824..189845993,5	MCF-7	breast:
5	chr2:189469791..189472156-chr2:189482699..189484262,2	K562	blood:
6	chr2:189469220..189472304-chr2:189586232..189590272,3	MCF-7	breast:
7	chr2:189470137..189473271-chr2:189629493..189632032,3	MCF-7	breast:
8	chr2:189468855..189473219-chr2:189714183..189718642,4	MCF-7	breast:
9	chr2:189470586..189472636-chr2:189478080..189480137,2	MCF-7	breast:
10	chr2:189470399..189472491-chr2:189712469..189714319,2	MCF-7	breast:
11	chr2:189471021..189473862-chr2:189489903..189491806,2	MCF-7	breast:
12	chr2:189470205..189472177-chr2:189487201..189489591,2	MCF-7	breast:
13	chr2:189469579..189472035-chr2:189650010..189652348,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000221502	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10153688	0.88[EUR][1000 genomes]
rs10153871	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10172178	0.96[EUR][1000 genomes]
rs10173411	0.81[EUR][1000 genomes]
rs10185750	1.00[GIH][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs10199260	1.00[JPT][hapmap]
rs10203054	0.96[EUR][1000 genomes]
rs10211141	0.91[AMR][1000 genomes]
rs10804021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs10931363	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs10931369	1.00[ASN][1000 genomes]
rs11679949	1.00[CEU][hapmap]
rs11683909	1.00[CEU][hapmap]
rs11683969	1.00[CEU][hapmap]
rs11685238	0.88[EUR][1000 genomes]
rs11685643	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs11693105	1.00[CEU][hapmap]
rs11695177	1.00[CEU][hapmap]
rs11695316	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902664	0.88[EUR][1000 genomes]
rs12463744	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12475894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs12476413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12997039	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs13012993	1.00[ASN][1000 genomes]
rs13025659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs13386581	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13386959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs13391137	0.81[AFR][1000 genomes]
rs13392850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs13393057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13396968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13397653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs13413644	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13413752	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13414327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs13418031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs13424809	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1354902	1.00[JPT][hapmap]
rs1354904	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1354910	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1507551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1567184	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1580993	1.00[ASN][1000 genomes]
rs1807235	0.96[EUR][1000 genomes]
rs4453658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs4577225	0.96[EUR][1000 genomes]
rs4667229	1.00[JPT][hapmap]
rs4667231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs55663622	0.88[EUR][1000 genomes]
rs61045757	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6414119	0.88[EUR][1000 genomes]
rs6434285	0.88[EUR][1000 genomes]
rs6434286	0.85[EUR][1000 genomes]
rs66641143	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6707212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6709557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs6727633	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67425558	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6744275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs6756504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs698553	0.81[EUR][1000 genomes]
rs7419798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs7420808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs7421510	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs7422739	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7423329	1.00[CEU][hapmap]
rs7423554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs7424421	0.82[EUR][1000 genomes]
rs7568147	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7569960	0.87[AMR][1000 genomes]
rs7574550	0.83[AMR][1000 genomes]
rs7579593	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs7580259	0.83[YRI][hapmap]
rs7582643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs7587596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs7596299	1.00[ASN][1000 genomes]
rs7599158	0.87[AFR][1000 genomes]
rs7602180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs781261	1.00[CHB][hapmap]
rs8273	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189450400-189475000	Weak transcription	Aorta	Aorta
2	chr2:189464200-189475400	Weak transcription	Right Atrium	heart
3	chr2:189464400-189474400	Weak transcription	Fetal Lung	lung
4	chr2:189466200-189472400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:189466600-189472000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:189466600-189472200	Weak transcription	HSMM	muscle
7	chr2:189467200-189472200	Weak transcription	NHDF-Ad	bronchial
8	chr2:189470800-189475000	Weak transcription	Placenta	Placenta
9	chr2:189470800-189484000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:189471600-189472200	Active TSS	K562	blood
11	chr2:189471800-189474200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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