Variant report

Variant	rs16829619
Chromosome Location	chr2:152015633-152015634
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152010696..152012482-chr2:152014906..152017450,2	K562	blood:
2	chr2:152014944..152016964-chr2:152019119..152020652,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10490524	0.83[AFR][1000 genomes]
rs1073614	0.86[AFR][1000 genomes]
rs12623108	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16829615	0.97[AFR][1000 genomes]
rs16829662	0.83[AFR][1000 genomes]
rs16829664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16829665	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16829668	0.86[AFR][1000 genomes]
rs16829669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16829706	0.81[AFR][1000 genomes]
rs16829726	0.84[AFR][1000 genomes]
rs16829835	1.00[CHD][hapmap]
rs289845	0.88[ASN][1000 genomes]
rs289855	0.88[ASN][1000 genomes]
rs289856	0.88[ASN][1000 genomes]
rs289857	0.90[ASN][1000 genomes]
rs289859	0.85[ASN][1000 genomes]
rs289861	0.88[ASN][1000 genomes]
rs289863	0.90[ASN][1000 genomes]
rs289865	0.90[ASN][1000 genomes]
rs289867	0.90[ASN][1000 genomes]
rs289878	0.90[ASN][1000 genomes]
rs289879	0.88[ASN][1000 genomes]
rs289890	0.89[CHD][hapmap]
rs289917	0.89[CHD][hapmap]
rs289942	1.00[ASN][1000 genomes]
rs381768	0.90[ASN][1000 genomes]
rs383265	0.90[ASN][1000 genomes]
rs400073	0.90[ASN][1000 genomes]
rs41407949	0.84[AFR][1000 genomes]
rs4664269	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4665029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6433283	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525350	chr2:151711700-152044794	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1002140	chr2:151833257-152054910	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv834417	chr2:151980473-152154950	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152007200-152018000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:152013200-152015800	Weak transcription	Fetal Brain Male	brain
3	chr2:152013600-152018400	Weak transcription	Osteobl	bone
4	chr2:152014200-152015800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:152014400-152016000	Weak transcription	Fetal Lung	lung
6	chr2:152015200-152018600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:152015400-152016200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:152015600-152015800	Enhancers	NH-A	brain
9	chr2:152015600-152016000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:152015600-152016200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:152015600-152016800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:152015600-152017000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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