Variant report

Variant	rs7580094
Chromosome Location	chr2:172370486-172370487
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172364696..172368606-chr2:172368904..172372497,6	K562	blood:
2	chr2:172355656..172357475-chr2:172369046..172371248,2	K562	blood:
3	chr2:172362522..172365533-chr2:172367182..172371221,4	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13406777	0.86[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1476110	0.89[CHB][hapmap]
rs2058928	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6711792	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7593146	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs918231	0.90[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7580094	CYBRD1	cis	Whole Blood	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172367000-172372000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:172367000-172372000	Weak transcription	NHDF-Ad	bronchial
3	chr2:172367000-172378000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:172367800-172371600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr2:172368000-172371200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:172368000-172371200	Enhancers	Primary hematopoietic stem cells	blood
7	chr2:172368000-172371200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:172368000-172371600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:172368000-172372400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr2:172368600-172372000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:172368800-172370600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:172369400-172370800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:172370000-172370600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:172370000-172370800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:172370000-172370800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:172370000-172370800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:172370000-172371000	Enhancers	Primary B cells from cord blood	blood
18	chr2:172370000-172371000	Flanking Active TSS	K562	blood
19	chr2:172370000-172371000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr2:172370200-172370600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr2:172370200-172370600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr2:172370200-172370800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:172370200-172370800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr2:172370200-172370800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:172370200-172370800	Enhancers	Fetal Thymus	thymus
26	chr2:172370200-172371000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:172370200-172371000	Flanking Active TSS	GM12878-XiMat	blood
28	chr2:172370400-172370600	Enhancers	H9 Cell Line	embryonic stem cell
29	chr2:172370400-172370600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:172370400-172370800	Enhancers	Right Ventricle	heart
31	chr2:172370400-172371000	Enhancers	HSMMtube	muscle

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