Variant report

Variant	rs62179967
Chromosome Location	chr2:134026914-134026915
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10167342	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10170384	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10182118	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10185165	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10189529	0.86[AMR][1000 genomes]
rs10193871	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10206544	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10210486	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10496702	0.90[EUR][1000 genomes]
rs10496703	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10496704	0.86[AMR][1000 genomes]
rs12464930	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12469282	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13390487	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13391016	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13399345	0.86[AMR][1000 genomes]
rs13399558	0.86[AMR][1000 genomes]
rs13412008	0.86[AMR][1000 genomes]
rs13413333	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13414129	0.82[ASN][1000 genomes]
rs13418981	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13430905	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13431418	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1344725	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1344727	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1344728	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1430169	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17800749	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1820927	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1835341	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2115865	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2217428	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4057049	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4589811	0.86[AMR][1000 genomes]
rs61632923	0.83[AMR][1000 genomes]
rs62178459	0.88[EUR][1000 genomes]
rs62179960	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62179961	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62179969	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62179970	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62180003	0.84[AMR][1000 genomes]
rs6430405	0.82[EUR][1000 genomes]
rs6744863	0.90[EUR][1000 genomes]
rs6749561	0.81[ASN][1000 genomes]
rs6756852	0.85[EUR][1000 genomes]
rs7568471	0.88[ASN][1000 genomes]
rs7600407	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7600871	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7603759	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1002488	chr2:133890159-134275312	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv535928	chr2:133890159-134275312	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1011100	chr2:133900062-134046163	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3375790	chr2:133906915-134222833	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1005405	chr2:133930876-134055434	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv535929	chr2:133930876-134055434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv516915	chr2:133999831-134054662	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv834384	chr2:134005229-134188648	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr2:134025200-134035400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:134025600-134030400	Weak transcription	Brain Substantia Nigra	brain
3	chr2:134026000-134027000	Weak transcription	Hela-S3	cervix
4	chr2:134026000-134030200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:134026000-134030600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:134026000-134030600	Weak transcription	A549	lung
7	chr2:134026400-134029200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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