Variant report

Variant	rs918231
Chromosome Location	chr2:172372181-172372182
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172370595..172374063-chr2:172374486..172376934,3	MCF-7	breast:
2	chr2:172364696..172368606-chr2:172368904..172372497,6	K562	blood:
3	chr2:172340109..172342065-chr2:172370654..172373620,2	K562	blood:
4	chr2:172288399..172297381-chr2:172370978..172381493,22	K562	blood:

Variant related genes	Relation type
ENSG00000115827	Chromatin interaction
ENSG00000123600	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs13406777	0.89[CHB][hapmap]
rs1476110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57207005	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60723438	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724344	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67453340	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73976185	0.84[ASN][1000 genomes]
rs888427	0.84[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]

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
rs918231	CYBRD1	cis	Whole Blood	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172367000-172378000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:172368000-172372400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr2:172370600-172372200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:172370600-172372200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:172370600-172372400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:172370800-172372200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:172370800-172372800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:172370800-172373400	Weak transcription	Fetal Thymus	thymus
9	chr2:172370800-172378400	Weak transcription	Right Ventricle	heart
10	chr2:172371200-172376200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:172371600-172375800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:172371600-172376400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:172371800-172372200	Weak transcription	GM12878-XiMat	blood
14	chr2:172372000-172372200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:172372000-172372200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:172372000-172372200	Flanking Active TSS	K562	blood
17	chr2:172372000-172372400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:172372000-172372400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr2:172372000-172372400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr2:172372000-172372400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:172372000-172372600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:172372000-172372600	Enhancers	HSMMtube	muscle
23	chr2:172372000-172373200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:172372000-172373200	Enhancers	Osteobl	bone
25	chr2:172372000-172373400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:172372000-172373600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:172372000-172373600	Enhancers	NHDF-Ad	bronchial

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