Variant report

Variant	rs1249431
Chromosome Location	chr2:141944059-141944060
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1033286	1.00[YRI][hapmap]
rs12477086	1.00[YRI][hapmap]
rs1249422	1.00[YRI][hapmap]
rs1249423	1.00[YRI][hapmap]
rs1249424	1.00[YRI][hapmap]
rs1249427	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1249428	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1249430	1.00[YRI][hapmap]
rs1249432	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1249434	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1249444	1.00[YRI][hapmap]
rs1249451	1.00[YRI][hapmap]
rs1249456	1.00[YRI][hapmap]
rs1249459	1.00[YRI][hapmap]
rs1249460	1.00[YRI][hapmap]
rs1249461	1.00[YRI][hapmap]
rs1714257	1.00[YRI][hapmap]
rs1714258	1.00[YRI][hapmap]
rs300376	1.00[YRI][hapmap]
rs5022755	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583198	chr2:141510791-142150620	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	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
3	nsv1003799	chr2:141803314-142033675	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1009434	chr2:141832339-142156180	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv875228	chr2:141841920-141949292	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1005236	chr2:141860005-142047695	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv535948	chr2:141860005-142047695	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv875229	chr2:141905052-141951944	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	1 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	chr2:141943800-141945000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:141944000-141944600	Enhancers	Brain Cingulate Gyrus	brain
3	chr2:141944000-141944600	Enhancers	Fetal Brain Male	brain
4	chr2:141944000-141944600	Enhancers	Dnd41	blood
5	chr2:141944000-141944800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:141944000-141944800	Enhancers	Brain Angular Gyrus	brain
7	chr2:141944000-141945000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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