Variant report

Variant	rs2972830
Chromosome Location	chr5:75566448-75566449
allele	C/T
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];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2937719	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2937723	0.86[CEU][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2972821	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2972823	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2972824	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2972833	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34059495	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35496680	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6859816	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7725242	0.86[AMR][1000 genomes];0.94[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:26 , 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	chr5:75565000-75566800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr5:75565200-75566600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:75565200-75566600	Enhancers	Pancreas	Pancrea
6	chr5:75565400-75566600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:75565400-75566600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:75565400-75566600	Enhancers	NHEK	skin
9	chr5:75565400-75567000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:75565400-75568200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:75565400-75569200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:75565600-75566600	Enhancers	Primary hematopoietic stem cells	blood
13	chr5:75565600-75566800	Enhancers	GM12878-XiMat	blood
14	chr5:75565800-75566600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:75565800-75566600	Enhancers	HMEC	breast
16	chr5:75565800-75568000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:75566000-75567800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:75566000-75567800	Weak transcription	Fetal Lung	lung
19	chr5:75566000-75569200	Weak transcription	Fetal Stomach	stomach
20	chr5:75566200-75566600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr5:75566200-75567200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:75566200-75567600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr5:75566400-75567600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:75566400-75567600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:75566400-75567800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:75566400-75569200	Weak transcription	Monocytes-CD14+_RO01746	blood

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