Variant report

Variant	rs12996112
Chromosome Location	chr2:151060143-151060144
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	chr2:151059823..151062781-chr2:151071614..151074024,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10170246	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174836	0.83[EUR][1000 genomes]
rs10184785	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10190277	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10195650	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10207680	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1031212	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1031213	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1031214	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1031215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1031216	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10930038	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1155072	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11682154	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11687868	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11694747	0.93[EUR][1000 genomes]
rs11886061	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11886070	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12692632	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12692633	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12692644	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12986816	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13024074	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13024803	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13028397	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13419478	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1348741	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1374157	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2376603	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4260269	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4283445	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4295034	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4296450	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4318407	0.92[EUR][1000 genomes]
rs4434022	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4435478	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4461280	0.93[EUR][1000 genomes]
rs4464296	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4481007	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4560135	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4597551	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4597552	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4600677	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4629182	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4667341	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4667343	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62170020	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6432680	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6432682	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6432683	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6432700	0.82[EUR][1000 genomes]
rs6650776	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6733918	0.81[EUR][1000 genomes]
rs7422660	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7557353	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7564853	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7566441	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7569176	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7575612	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7580941	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7581265	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7581723	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7586530	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7592745	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7600792	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7604483	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9678528	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs974902	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005441	chr2:150457624-151060247	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv469524	chr2:150927500-151076920	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv834412	chr2:151014270-151116638	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151048200-151060400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:151055800-151064600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:151060000-151060200	Enhancers	Colon Smooth Muscle	Colon
4	chr2:151060000-151060200	Enhancers	Fetal Brain Female	brain
5	chr2:151060000-151061000	Weak transcription	NHDF-Ad	bronchial
6	chr2:151060000-151061800	Enhancers	Osteobl	bone
7	chr2:151060000-151062000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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