Variant report

Variant	rs7572480
Chromosome Location	chr2:142257127-142257128
allele	A/C
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:60)

rs_ID	r²[population]
rs10165979	1.00[AMR][1000 genomes]
rs10176397	1.00[AMR][1000 genomes]
rs10176693	1.00[AMR][1000 genomes]
rs10187180	1.00[AMR][1000 genomes]
rs10200578	1.00[AMR][1000 genomes]
rs10200782	1.00[AMR][1000 genomes]
rs10200845	1.00[AMR][1000 genomes]
rs11887261	1.00[AMR][1000 genomes]
rs11904458	1.00[AMR][1000 genomes]
rs12466189	1.00[AMR][1000 genomes]
rs12472734	1.00[AMR][1000 genomes]
rs12617980	1.00[AMR][1000 genomes]
rs12618575	1.00[AMR][1000 genomes]
rs12691613	1.00[AMR][1000 genomes]
rs12691614	0.87[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12691615	1.00[AMR][1000 genomes]
rs1483138	1.00[AMR][1000 genomes]
rs1483152	1.00[AMR][1000 genomes]
rs2054655	0.81[YRI][hapmap]
rs2128694	1.00[AMR][1000 genomes]
rs2170667	0.82[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2381110	1.00[AMR][1000 genomes]
rs2381111	1.00[AMR][1000 genomes]
rs2381112	1.00[AMR][1000 genomes]
rs2381113	1.00[AMR][1000 genomes]
rs2381192	1.00[AMR][1000 genomes]
rs3935992	1.00[AMR][1000 genomes]
rs4008531	1.00[AMR][1000 genomes]
rs4245859	1.00[AMR][1000 genomes]
rs4264515	1.00[AMR][1000 genomes]
rs4296372	1.00[AMR][1000 genomes]
rs4366842	1.00[AMR][1000 genomes]
rs4396652	1.00[AMR][1000 genomes]
rs4439901	1.00[AMR][1000 genomes]
rs4441406	1.00[AMR][1000 genomes]
rs4476294	1.00[AMR][1000 genomes]
rs4477847	1.00[AMR][1000 genomes]
rs4555282	1.00[AMR][1000 genomes]
rs4954909	1.00[AMR][1000 genomes]
rs4954913	1.00[AMR][1000 genomes]
rs6429896	1.00[AMR][1000 genomes]
rs6429901	1.00[AMR][1000 genomes]
rs6429902	1.00[AMR][1000 genomes]
rs6706356	1.00[AMR][1000 genomes]
rs6706377	1.00[AMR][1000 genomes]
rs6707441	1.00[AMR][1000 genomes]
rs6708438	1.00[AMR][1000 genomes]
rs6710020	1.00[AMR][1000 genomes]
rs6713043	1.00[AMR][1000 genomes]
rs6718844	1.00[AMR][1000 genomes]
rs6737585	1.00[AMR][1000 genomes]
rs6749472	1.00[AMR][1000 genomes]
rs7557631	1.00[AMR][1000 genomes]
rs7582623	1.00[AMR][1000 genomes]
rs7585325	1.00[AMR][1000 genomes]
rs7593866	1.00[AMR][1000 genomes]
rs7607376	0.82[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs983197	1.00[AMR][1000 genomes]
rs983198	1.00[AMR][1000 genomes]
rs983199	1.00[AMR][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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142247800-142266200	Weak transcription	Brain Anterior Caudate	brain
2	chr2:142249600-142257600	Weak transcription	Brain Substantia Nigra	brain
3	chr2:142254800-142257800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:142256000-142257800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr2:142256000-142257800	Enhancers	Fetal Heart	heart
6	chr2:142256000-142258800	Weak transcription	Dnd41	blood
7	chr2:142256400-142257200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:142256400-142263600	Weak transcription	Brain Hippocampus Middle	brain

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