Variant report

Variant	rs16846250
Chromosome Location	chr2:142248299-142248300
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10496883	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1483150	0.80[YRI][hapmap]
rs16846150	0.88[AFR][1000 genomes]
rs16846186	0.93[YRI][hapmap];0.93[AFR][1000 genomes]
rs16846227	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846257	1.00[AFR][1000 genomes]
rs16846262	0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846311	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs16846319	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs16846333	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs16846369	1.00[YRI][hapmap]
rs16846372	1.00[YRI][hapmap]
rs16846475	0.80[YRI][hapmap]
rs16846504	0.80[YRI][hapmap]
rs16846515	0.80[YRI][hapmap]
rs60388182	0.88[AFR][1000 genomes]
rs61221994	0.88[AFR][1000 genomes]
rs72989025	0.88[AFR][1000 genomes]
rs72989033	0.88[AFR][1000 genomes]
rs72989056	0.88[AFR][1000 genomes]
rs72989075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72989081	1.00[AFR][1000 genomes]
rs72989098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72989102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72991023	0.98[AFR][1000 genomes]
rs72992746	0.83[AFR][1000 genomes]
rs72992758	0.93[AFR][1000 genomes]
rs72992762	0.89[AFR][1000 genomes]
rs7423788	0.92[YRI][hapmap];0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817518	chr2:141714174-142287302	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv583203	chr2:142055133-142378975	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv875234	chr2:142156180-142254119	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	nsv875240	chr2:142199421-142347455	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv875243	chr2:142219033-142259592	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv459607	chr2:142226768-142263400	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv583207	chr2:142226768-142263400	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv459618	chr2:142246988-142263746	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv583209	chr2:142246988-142263746	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142239400-142256400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:142247400-142249600	Enhancers	Brain Angular Gyrus	brain
3	chr2:142247400-142249600	Enhancers	Brain Substantia Nigra	brain
4	chr2:142247800-142249400	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr2:142247800-142249600	Enhancers	Brain Hippocampus Middle	brain
6	chr2:142247800-142266200	Weak transcription	Brain Anterior Caudate	brain
7	chr2:142248000-142249600	Enhancers	Brain Cingulate Gyrus	brain
8	chr2:142248200-142250000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:142248200-142250200	Enhancers	Muscle Satellite Cultured Cells	--

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