Variant report

Variant	rs73934833
Chromosome Location	chr2:54985385-54985386
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54985006..54987163-chr2:54989443..54991408,2	K562	blood:
2	chr2:54984889..54987163-chr2:54988592..54991408,3	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17046386	1.00[AMR][1000 genomes]
rs57539931	0.83[AFR][1000 genomes]
rs59015634	1.00[AMR][1000 genomes]
rs61346650	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6712532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6723047	0.85[AMR][1000 genomes]
rs6740845	1.00[AMR][1000 genomes]
rs73934812	0.89[AFR][1000 genomes]
rs73934813	0.93[AFR][1000 genomes]
rs73934839	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73934840	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73935663	0.83[AMR][1000 genomes]
rs73935667	1.00[AMR][1000 genomes]
rs73935669	0.85[AMR][1000 genomes]
rs73936455	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73936456	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73936458	0.83[AFR][1000 genomes]
rs73936459	0.83[AFR][1000 genomes]
rs73936460	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73936464	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54982200-54986400	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:54983600-54985600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:54983600-54991600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:54983800-54985800	Enhancers	Primary B cells from cord blood	blood
5	chr2:54984200-54985600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:54984400-54985600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr2:54984400-54985600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:54984400-54985800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:54984400-54985800	Enhancers	Brain Anterior Caudate	brain
10	chr2:54984600-54985600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:54984600-54985600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:54984600-54985800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:54984600-54986200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:54984600-54986800	Enhancers	NHEK	skin
15	chr2:54984800-54985400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:54984800-54985400	Active TSS	Monocytes-CD14+_RO01746	blood
17	chr2:54984800-54985600	Flanking Active TSS	GM12878-XiMat	blood
18	chr2:54984800-54991000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:54985000-54985400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:54985000-54985400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:54985000-54985400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:54985200-54985400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:54985200-54985600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr2:54985200-54985600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:54985200-54985600	Enhancers	Osteobl	bone
26	chr2:54985200-54990800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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