Variant report

Variant	rs1070197
Chromosome Location	chr2:183129949-183129950
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1383899	0.86[EUR][1000 genomes]
rs167284	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16822777	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16822784	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16822795	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16822803	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16822812	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16822843	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16822851	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16822918	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16822938	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1842640	0.86[EUR][1000 genomes]
rs1967008	0.86[EUR][1000 genomes]
rs2438290	0.86[EUR][1000 genomes]
rs2568683	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2568684	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2568686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2623421	0.94[EUR][1000 genomes]
rs300888	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs711807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73032449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73036255	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs833130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs833134	1.00[ASN][1000 genomes]
rs833138	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs833139	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs833143	0.86[EUR][1000 genomes]
rs833157	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs833160	0.86[EUR][1000 genomes]
rs833161	0.86[EUR][1000 genomes]
rs866732	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583913	chr2:183043563-183243313	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1008825	chr2:183067339-183228668	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv536066	chr2:183067339-183228668	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr2:183106400-183138400	Weak transcription	Aorta	Aorta
2	chr2:183113600-183138800	Weak transcription	Fetal Stomach	stomach
3	chr2:183124800-183130400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:183125400-183130000	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:183129000-183131600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:183129200-183131400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:183129200-183133800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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