Variant report

Variant	rs2281416
Chromosome Location	chr1:185305448-185305449
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185285397..185289190-chr1:185299692..185306897,6	K562	blood:
2	chr1:185302116..185303634-chr1:185304361..185306338,2	K562	blood:

Variant related genes	Relation type
ENSG00000261024	Chromatin interaction
ENSG00000273004	Chromatin interaction
ENSG00000116679	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10157232	0.83[EUR][1000 genomes]
rs10158623	0.89[EUR][1000 genomes]
rs10174	0.83[CHB][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10798004	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs10798006	0.92[EUR][1000 genomes]
rs10911702	0.83[CHB][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10911704	0.89[CHB][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10911707	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10911708	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12026391	0.83[CHB][hapmap];0.87[EUR][1000 genomes]
rs12044943	0.84[EUR][1000 genomes]
rs17641003	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2152707	0.81[EUR][1000 genomes]
rs2224027	0.83[EUR][1000 genomes]
rs2378909	0.84[EUR][1000 genomes]
rs2378910	0.83[CHB][hapmap]
rs6656019	0.84[EUR][1000 genomes]
rs6682891	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs66845254	0.85[EUR][1000 genomes]
rs6687774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123	0.89[CEU][hapmap];0.83[CHB][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs726567	0.94[CHB][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7512337	0.83[EUR][1000 genomes]
rs7545878	0.84[EUR][1000 genomes]
rs883753	0.83[CHB][hapmap]
rs997283	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	esv2756872	chr1:185293197-185345771	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv2758981	chr1:185293197-185345771	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185302400-185307400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:185303400-185305600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:185303400-185307800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:185304200-185310600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:185305000-185305800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr1:185305200-185310200	Enhancers	Primary monocytes fromperipheralblood	blood

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