Variant report

Variant	rs2972833
Chromosome Location	chr5:75567321-75567322
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75566316..75567948-chr5:75593410..75595007,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2937718	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2937719	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2937723	0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2972821	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2972823	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2972824	0.80[CHB][hapmap];0.87[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2972830	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34059495	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35496680	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6859816	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7725242	0.88[AMR][1000 genomes];0.91[EUR][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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv980979	chr5:75561934-75576226	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75557200-75574000	Weak transcription	Right Atrium	heart
2	chr5:75564200-75568000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:75565400-75568200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr5:75565400-75569200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:75565800-75568000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr5:75566000-75567800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:75566000-75567800	Weak transcription	Fetal Lung	lung
8	chr5:75566000-75569200	Weak transcription	Fetal Stomach	stomach
9	chr5:75566200-75567600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:75566400-75567600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:75566400-75567600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:75566400-75567800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:75566400-75569200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr5:75566600-75567600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:75566600-75568000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:75566600-75569000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr5:75566600-75569200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:75566800-75567800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr5:75567000-75567400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:75567000-75570400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr5:75567200-75569200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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