Variant report

Variant	rs55716423
Chromosome Location	chr2:144879851-144879852
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	chr2:144878632..144882574-chr2:144884432..144888739,5	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12613814	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12614766	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1427310	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16823481	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16823487	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1861878	0.81[ASN][1000 genomes]
rs28544584	0.86[ASN][1000 genomes]
rs55883773	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56395361	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58738282	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59687135	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72852992	0.81[ASN][1000 genomes]
rs72852993	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72852998	0.86[ASN][1000 genomes]
rs72852999	0.86[ASN][1000 genomes]
rs72853001	0.86[ASN][1000 genomes]
rs72854106	0.86[ASN][1000 genomes]
rs72854129	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72854165	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72854176	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72854193	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72854200	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72855507	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72855511	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7608953	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1005376	chr2:144803630-144968946	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1013338	chr2:144806920-144969818	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv834396	chr2:144842187-145019465	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144868400-144883400	Weak transcription	Primary B cells from cord blood	blood
2	chr2:144869200-144880800	Weak transcription	Fetal Stomach	stomach
3	chr2:144869400-144899000	Weak transcription	Aorta	Aorta
4	chr2:144869800-144882400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:144870200-144895200	Weak transcription	HSMMtube	muscle
6	chr2:144870200-144909000	Weak transcription	Psoas Muscle	Psoas
7	chr2:144870400-144882200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:144870600-144891400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:144871400-144900600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:144871600-144903200	Weak transcription	Left Ventricle	heart
11	chr2:144872000-144901200	Weak transcription	Fetal Kidney	kidney
12	chr2:144872200-144895200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:144873600-144880800	Weak transcription	Gastric	stomach
14	chr2:144873600-144901400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:144873600-144901400	Weak transcription	Adipose Nuclei	Adipose
16	chr2:144873800-144901800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:144874400-144897000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:144874800-144891200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:144874800-144913200	Weak transcription	Fetal Lung	lung
20	chr2:144876000-144888400	Weak transcription	Brain Substantia Nigra	brain
21	chr2:144877200-144895000	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:144877200-144895600	Weak transcription	Pancreas	Pancrea
23	chr2:144877200-144903200	Weak transcription	Ovary	ovary
24	chr2:144877400-144891400	Weak transcription	Brain Angular Gyrus	brain

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