Variant report

Variant	rs72991023
Chromosome Location	chr2:142259329-142259330
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	chr2:142259034..142262033-chr2:142268324..142270584,3	MCF-7	breast:
2	chr2:142257639..142260616-chr2:142261708..142263676,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10496883	0.98[AFR][1000 genomes]
rs1483150	1.00[AMR][1000 genomes]
rs1483151	1.00[AMR][1000 genomes]
rs16846150	0.86[AFR][1000 genomes]
rs16846186	0.91[AFR][1000 genomes]
rs16846227	0.98[AFR][1000 genomes]
rs16846233	0.98[AFR][1000 genomes]
rs16846250	0.98[AFR][1000 genomes]
rs16846257	0.98[AFR][1000 genomes]
rs16846262	0.93[AFR][1000 genomes]
rs16846311	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846333	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846475	1.00[AMR][1000 genomes]
rs16846480	1.00[AMR][1000 genomes]
rs16846504	1.00[AMR][1000 genomes]
rs16846515	1.00[AMR][1000 genomes]
rs60388182	0.86[AFR][1000 genomes]
rs61221994	0.86[AFR][1000 genomes]
rs72976079	1.00[AMR][1000 genomes]
rs72976082	1.00[AMR][1000 genomes]
rs72976086	1.00[AMR][1000 genomes]
rs72976087	1.00[AMR][1000 genomes]
rs72978005	1.00[AMR][1000 genomes]
rs72989025	0.86[AFR][1000 genomes]
rs72989033	0.86[AFR][1000 genomes]
rs72989056	0.86[AFR][1000 genomes]
rs72989075	0.98[AFR][1000 genomes]
rs72989081	0.98[AFR][1000 genomes]
rs72989098	0.98[AFR][1000 genomes]
rs72989102	0.98[AFR][1000 genomes]
rs72992746	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992758	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992762	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7423788	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
4	nsv875243	chr2:142219033-142259592	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv459607	chr2:142226768-142263400	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv583207	chr2:142226768-142263400	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv459618	chr2:142246988-142263746	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv583209	chr2:142246988-142263746	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv470491	chr2:142254119-142299923	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	nsv821740	chr2:142255019-142259467	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv834393	chr2:142256714-142431564	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 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	chr2:142247800-142266200	Weak transcription	Brain Anterior Caudate	brain
2	chr2:142256400-142263600	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:142257800-142265800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:142258000-142265800	Weak transcription	Brain Substantia Nigra	brain
5	chr2:142258800-142260200	Enhancers	Dnd41	blood
6	chr2:142259000-142259600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:142259000-142259800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:142259000-142260200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:142259200-142259800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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