Variant report

Variant	rs56403470
Chromosome Location	chr2:172252999-172253000
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	chr2:172252856..172255124-chr2:172255205..172258416,3	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55982809	0.81[AMR][1000 genomes]
rs72874622	0.89[AMR][1000 genomes]
rs72874628	0.81[AMR][1000 genomes]
rs72882324	0.95[ASN][1000 genomes]
rs9750596	0.84[AMR][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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56403470	CYBRD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172222200-172289600	Weak transcription	Gastric	stomach
2	chr2:172232000-172253200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:172237800-172254400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:172238000-172272400	Weak transcription	Fetal Intestine Large	intestine
5	chr2:172238800-172272400	Weak transcription	Primary T cells from cord blood	blood
6	chr2:172239200-172257400	Weak transcription	K562	blood
7	chr2:172243600-172253400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:172243800-172257800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:172244000-172257800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:172246800-172255400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr2:172247200-172254200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:172248000-172266000	Weak transcription	Left Ventricle	heart
13	chr2:172248200-172257600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:172248200-172258000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:172248400-172257000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:172248400-172258000	Weak transcription	NHEK	skin
17	chr2:172248400-172258400	Weak transcription	HSMM	muscle
18	chr2:172248400-172259600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:172248400-172259600	Weak transcription	Hela-S3	cervix
20	chr2:172248600-172265400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:172248800-172258000	Weak transcription	A549	lung
22	chr2:172249000-172258400	Weak transcription	HepG2	liver
23	chr2:172249000-172259200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:172250000-172253800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:172250800-172255800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:172251600-172256800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:172251600-172256800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:172251800-172253800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:172251800-172256000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:172252000-172256600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:172252000-172256800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:172252400-172257000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:172252600-172253800	Weak transcription	GM12878-XiMat	blood

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