Variant report

Variant	rs2257942
Chromosome Location	chr2:233769324-233769325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2592103	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2675969	0.81[EUR][1000 genomes]
rs778337	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs778343	0.82[EUR][1000 genomes]
rs778357	0.83[EUR][1000 genomes]
rs778359	0.83[EUR][1000 genomes]
rs778362	0.84[EUR][1000 genomes]
rs778367	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs809017	0.88[ASN][1000 genomes]
rs895434	0.83[EUR][1000 genomes]
rs967465	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3377192	chr2:233758324-233835472	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233757400-233776600	Weak transcription	Brain Angular Gyrus	brain
2	chr2:233759200-233784400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:233764000-233783800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:233766600-233776400	Weak transcription	Liver	Liver
5	chr2:233767000-233772000	Weak transcription	Fetal Intestine Small	intestine
6	chr2:233767000-233789000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:233767200-233771800	Weak transcription	HepG2	liver
8	chr2:233767200-233772000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:233767200-233776200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:233767200-233790400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:233767400-233771800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:233769000-233769600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:233769000-233769800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:233769000-233772000	Weak transcription	A549	lung
15	chr2:233769200-233775400	Weak transcription	Duodenum Mucosa	Duodenum

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dbSNP/dbVar ID: rs12345 /nsv7879
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