Variant report

Variant	rs73949838
Chromosome Location	chr2:86825143-86825144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1030886	0.90[EUR][1000 genomes]
rs1030887	0.90[EUR][1000 genomes]
rs11127043	0.89[EUR][1000 genomes]
rs11548929	0.90[EUR][1000 genomes]
rs11891659	0.90[EUR][1000 genomes]
rs11899532	0.82[EUR][1000 genomes]
rs1437614	0.84[EUR][1000 genomes]
rs1518808	0.82[EUR][1000 genomes]
rs1518812	0.82[EUR][1000 genomes]
rs17027265	0.82[EUR][1000 genomes]
rs17027270	0.82[EUR][1000 genomes]
rs17027280	0.90[EUR][1000 genomes]
rs17027296	0.94[EUR][1000 genomes]
rs34633268	0.81[EUR][1000 genomes]
rs55688177	0.90[EUR][1000 genomes]
rs55708352	0.90[EUR][1000 genomes]
rs55828608	0.82[EUR][1000 genomes]
rs56085540	0.82[EUR][1000 genomes]
rs56169889	0.82[EUR][1000 genomes]
rs56211578	0.92[EUR][1000 genomes]
rs56227180	0.94[EUR][1000 genomes]
rs56347930	0.82[EUR][1000 genomes]
rs56378606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57291816	0.82[EUR][1000 genomes]
rs58091125	0.94[EUR][1000 genomes]
rs58361202	0.82[EUR][1000 genomes]
rs59026369	0.94[EUR][1000 genomes]
rs59336972	0.82[EUR][1000 genomes]
rs59521243	0.94[EUR][1000 genomes]
rs59613942	0.94[EUR][1000 genomes]
rs59859947	0.94[EUR][1000 genomes]
rs59895355	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60073472	0.94[EUR][1000 genomes]
rs60244636	0.94[EUR][1000 genomes]
rs60304516	0.82[EUR][1000 genomes]
rs60796561	0.94[EUR][1000 genomes]
rs61028062	0.82[EUR][1000 genomes]
rs61465748	0.94[EUR][1000 genomes]
rs61547860	0.90[EUR][1000 genomes]
rs6710780	0.90[EUR][1000 genomes]
rs6720414	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6740863	0.90[EUR][1000 genomes]
rs6745875	0.90[EUR][1000 genomes]
rs72930315	0.82[EUR][1000 genomes]
rs72930323	0.82[EUR][1000 genomes]
rs72930336	0.82[EUR][1000 genomes]
rs72930340	0.82[EUR][1000 genomes]
rs72930349	0.82[EUR][1000 genomes]
rs72930361	0.82[EUR][1000 genomes]
rs72930362	0.82[EUR][1000 genomes]
rs72930364	0.82[EUR][1000 genomes]
rs72930369	0.82[EUR][1000 genomes]
rs72932310	0.82[EUR][1000 genomes]
rs72932311	0.82[EUR][1000 genomes]
rs72932316	0.82[EUR][1000 genomes]
rs72932319	0.82[EUR][1000 genomes]
rs72932336	0.90[EUR][1000 genomes]
rs72932350	0.90[EUR][1000 genomes]
rs72932358	0.90[EUR][1000 genomes]
rs72932364	0.90[EUR][1000 genomes]
rs72932369	0.90[EUR][1000 genomes]
rs72932380	0.94[EUR][1000 genomes]
rs73949839	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7562493	0.90[EUR][1000 genomes]
rs7585722	0.94[EUR][1000 genomes]
rs7586028	0.94[EUR][1000 genomes]
rs7604179	0.90[EUR][1000 genomes]
rs7608800	0.90[EUR][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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1011590	chr2:86824181-86906114	Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86819800-86831000	Weak transcription	Fetal Brain Female	brain
2	chr2:86820000-86830600	Weak transcription	Brain Anterior Caudate	brain
3	chr2:86820000-86830800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:86820200-86831000	Weak transcription	Fetal Brain Male	brain
5	chr2:86820200-86831000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:86820400-86828400	Weak transcription	Fetal Stomach	stomach
7	chr2:86820600-86831000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:86823000-86830600	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:86823200-86842800	Weak transcription	Psoas Muscle	Psoas
10	chr2:86823400-86826200	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:86823600-86831200	Weak transcription	HSMMtube	muscle
12	chr2:86824000-86830800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:86824000-86831000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:86824200-86826200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:86824600-86840600	Weak transcription	Fetal Heart	heart
16	chr2:86824800-86831000	Weak transcription	Left Ventricle	heart

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