Variant report

Variant	rs13424983
Chromosome Location	chr2:189023495-189023496
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189019149..189021325-chr2:189022455..189024861,2	K562	blood:
2	chr2:189016643..189020649-chr2:189022455..189025667,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10168466	1.00[AMR][1000 genomes]
rs10173390	0.93[AFR][1000 genomes]
rs10186464	1.00[AMR][1000 genomes]
rs10196886	1.00[AMR][1000 genomes]
rs10198161	0.88[AFR][1000 genomes]
rs10206202	1.00[YRI][hapmap]
rs13389097	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13393442	0.82[YRI][hapmap]
rs13395248	1.00[AMR][1000 genomes]
rs13400817	1.00[AMR][1000 genomes]
rs13407674	1.00[AMR][1000 genomes]
rs13423258	1.00[AMR][1000 genomes]
rs59158272	1.00[AMR][1000 genomes]
rs6710795	0.81[YRI][hapmap]
rs6726334	0.93[AFR][1000 genomes]
rs6726657	1.00[YRI][hapmap]
rs6732273	0.83[AFR][1000 genomes]
rs6743691	1.00[AMR][1000 genomes]
rs6747109	1.00[AMR][1000 genomes]
rs6755644	0.82[YRI][hapmap]
rs7579505	1.00[YRI][hapmap]
rs7589600	0.81[YRI][hapmap]
rs7592786	0.84[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533353	chr2:188498301-189024655	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875603	chr2:188923773-189025977	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1002714	chr2:188934297-189025084	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv875604	chr2:188957640-189043137	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
6	nsv875605	chr2:189017499-189080087	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189004600-189026000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:189021000-189025200	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:189022600-189024400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:189022800-189023800	Enhancers	NHDF-Ad	bronchial
5	chr2:189022800-189024600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:189023000-189023800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:189023200-189023600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:189023200-189023600	Enhancers	Ovary	ovary
9	chr2:189023400-189023800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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