Variant report

Variant	rs73962055
Chromosome Location	chr2:145420475-145420476
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:145418716..145420519-chr2:145428764..145431146,2	K562	blood:
2	chr2:145274078..145277660-chr2:145416044..145421775,6	K562	blood:
3	chr2:145413723..145415776-chr2:145419365..145421540,2	K562	blood:

Variant related genes	Relation type
ENSG00000238057	Chromatin interaction
ENSG00000169554	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs55647125	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55665103	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55701936	1.00[AMR][1000 genomes]
rs55836609	1.00[AMR][1000 genomes]
rs55924315	1.00[AMR][1000 genomes]
rs55992490	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56049026	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56412031	1.00[AMR][1000 genomes]
rs56790676	1.00[AMR][1000 genomes]
rs56824932	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57273989	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59039216	1.00[AMR][1000 genomes]
rs59274820	1.00[AMR][1000 genomes]
rs59373132	1.00[AMR][1000 genomes]
rs60176990	1.00[AMR][1000 genomes]
rs60328211	1.00[AMR][1000 genomes]
rs61697170	1.00[AMR][1000 genomes]
rs73962059	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962062	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962063	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962064	1.00[AMR][1000 genomes]
rs73962065	1.00[AMR][1000 genomes]
rs73962068	1.00[AMR][1000 genomes]
rs73962070	1.00[AMR][1000 genomes]
rs73962071	1.00[AMR][1000 genomes]
rs73962074	1.00[AMR][1000 genomes]
rs73962078	1.00[AMR][1000 genomes]
rs73962079	1.00[AMR][1000 genomes]
rs73962081	1.00[AMR][1000 genomes]
rs73962084	1.00[AMR][1000 genomes]
rs73962086	1.00[AMR][1000 genomes]
rs73962088	1.00[AMR][1000 genomes]
rs73962089	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962094	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962096	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73962101	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963909	1.00[AMR][1000 genomes]
rs73963910	1.00[AMR][1000 genomes]
rs73963912	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963913	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963914	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963915	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963916	1.00[AMR][1000 genomes]
rs73963917	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963918	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963920	1.00[AMR][1000 genomes]
rs73963921	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963922	1.00[AMR][1000 genomes]
rs73963923	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963924	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963925	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963926	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963930	1.00[AMR][1000 genomes]
rs73963931	1.00[AMR][1000 genomes]
rs73963934	1.00[AMR][1000 genomes]
rs73963938	1.00[AMR][1000 genomes]
rs73963941	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963943	1.00[AMR][1000 genomes]
rs73963945	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963947	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73963955	1.00[AMR][1000 genomes]
rs73963956	1.00[AMR][1000 genomes]
rs73963957	1.00[AMR][1000 genomes]
rs73963960	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv531662	chr2:145219415-145422833	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv529501	chr2:145257682-145485605	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145413800-145422000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:145416800-145431400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:145417800-145423000	Enhancers	Primary hematopoietic stem cells	blood
4	chr2:145418000-145423000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:145418600-145422200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:145418600-145422400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:145419000-145421000	Weak transcription	Spleen	Spleen
8	chr2:145419000-145422000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:145419000-145423400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:145419000-145423400	Weak transcription	HMEC	breast
11	chr2:145419000-145432800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:145419200-145421000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr2:145419200-145421000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:145419400-145420600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:145419400-145420800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:145419800-145420600	Weak transcription	Primary B cells from cord blood	blood
17	chr2:145419800-145422600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr2:145420000-145421400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr2:145420200-145424000	Enhancers	K562	blood

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