Variant report

Variant	rs73962054
Chromosome Location	chr2:145418891-145418892
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:145209148..145210888-chr2:145417930..145420148,2	K562	blood:
2	chr2:145418716..145420519-chr2:145428764..145431146,2	K562	blood:
3	chr2:145274078..145277660-chr2:145416044..145421775,6	K562	blood:
4	chr2:145416681..145419273-chr2:145639225..145641332,2	K562	blood:

Variant related genes	Relation type
ENSG00000169554	Chromatin interaction
ENSG00000238057	Chromatin interaction
ENSG00000268580	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs4662395	1.00[EUR][1000 genomes]
rs57267897	1.00[AFR][1000 genomes]
rs57435901	0.89[AFR][1000 genomes]
rs73962044	0.81[AFR][1000 genomes]
rs73962046	0.81[AFR][1000 genomes]
rs73962050	1.00[AFR][1000 genomes]
rs73962056	0.89[AFR][1000 genomes]
rs73962060	0.89[AFR][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:28 , 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	chr2:145416400-145420000	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr2:145416800-145419000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:145416800-145419000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:145416800-145419000	Enhancers	HMEC	breast
6	chr2:145416800-145419000	Enhancers	HSMM	muscle
7	chr2:145416800-145431400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:145417000-145419000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:145417000-145419000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:145417000-145419200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:145417200-145419000	Enhancers	NHDF-Ad	bronchial
12	chr2:145417600-145419200	Enhancers	Primary B cells from peripheral blood	blood
13	chr2:145417600-145419400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr2:145417600-145419400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:145417800-145419000	Enhancers	NHEK	skin
16	chr2:145417800-145419400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:145417800-145423000	Enhancers	Primary hematopoietic stem cells	blood
18	chr2:145418000-145419000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:145418000-145419000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:145418000-145419000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:145418000-145423000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:145418200-145419000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:145418200-145419000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:145418200-145419000	Enhancers	Spleen	Spleen
25	chr2:145418600-145419800	Enhancers	Primary B cells from cord blood	blood
26	chr2:145418600-145422200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:145418600-145422400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:145418800-145419000	Flanking Active TSS	K562	blood

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