Variant report

Variant	rs833125
Chromosome Location	chr2:183182776-183182777
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	chr2:183172864..183175852-chr2:183181543..183183109,2	K562	blood:
2	chr2:183182727..183184381-chr2:183186031..183187729,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10931008	0.86[JPT][hapmap]
rs1121403	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11678230	0.84[JPT][hapmap]
rs11679657	0.83[CEU][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs11686989	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11690037	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs12328342	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12614214	0.85[EUR][1000 genomes]
rs12693302	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs12996836	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1370665	0.85[JPT][hapmap]
rs1370666	0.85[JPT][hapmap]
rs1370668	0.83[CEU][hapmap];0.81[GIH][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs1383898	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.82[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1438069	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1595447	0.85[EUR][1000 genomes]
rs16823047	0.94[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.84[TSI][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16823686	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17264887	0.85[JPT][hapmap]
rs17264894	0.80[JPT][hapmap]
rs6715692	0.94[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6728245	0.82[EUR][1000 genomes]
rs6757164	0.85[EUR][1000 genomes]
rs718448	0.94[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7422491	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7589514	0.94[CEU][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7595025	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs833124	0.83[YRI][hapmap]
rs833128	0.83[LWK][hapmap]
rs833171	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs833173	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs833174	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs833176	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs833177	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs833178	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs833179	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs833181	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs864417	0.95[CHB][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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
5	nsv459955	chr2:183170516-183204369	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv459956	chr2:183170516-183204369	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv583916	chr2:183170516-183204369	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183158800-183183200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:183175800-183184600	Weak transcription	Right Atrium	heart
3	chr2:183175800-183188400	Weak transcription	Aorta	Aorta
4	chr2:183179800-183183400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:183181600-183186200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:183182200-183183200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:183182200-183185000	Enhancers	NHDF-Ad	bronchial
8	chr2:183182600-183183000	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:183182600-183183800	Weak transcription	Brain Angular Gyrus	brain

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