Variant report

Variant	rs17221848
Chromosome Location	chr2:172372593-172372594
allele	A/G
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	chr2:172340109..172342065-chr2:172370654..172373620,2	K562	blood:
3	chr2:172288399..172297381-chr2:172370978..172381493,22	K562	blood:

Variant related genes	Relation type
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1047255	1.00[CHB][hapmap]
rs12052537	0.87[YRI][hapmap];0.85[EUR][1000 genomes]
rs12052918	0.85[EUR][1000 genomes]
rs17222641	1.00[CHB][hapmap]
rs17288588	1.00[CHB][hapmap]
rs3821083	1.00[CHB][hapmap]
rs55862034	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66529480	0.84[EUR][1000 genomes]
rs72882375	0.91[EUR][1000 genomes]
rs72884306	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72884332	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72884356	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7585974	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs17221848	SP5	cis	cerebellum	SCAN
rs17221848	CYBRD1	cis	Whole Blood	GTEx
rs17221848	CYBRD1	cis	Esophagus Muscularis	GTEx
rs17221848	DHRS9	cis	parietal	SCAN
rs17221848	CYBRD1	cis	lymphoblastoid	seeQTL
rs17221848	CYBRD1	cis	parietal	SCAN
rs17221848	CYBRD1	cis	Artery Tibial	GTEx
rs17221848	CYBRD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:36 , 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	chr2:172370800-172372800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:172370800-172373400	Weak transcription	Fetal Thymus	thymus
4	chr2:172370800-172378400	Weak transcription	Right Ventricle	heart
5	chr2:172371200-172376200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:172371600-172375800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:172371600-172376400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:172372000-172372600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:172372000-172372600	Enhancers	HSMMtube	muscle
10	chr2:172372000-172373200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:172372000-172373200	Enhancers	Osteobl	bone
12	chr2:172372000-172373400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:172372000-172373600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:172372000-172373600	Enhancers	NHDF-Ad	bronchial
15	chr2:172372200-172372600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:172372200-172372600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:172372200-172372600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:172372200-172372600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:172372200-172372600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:172372200-172372600	Enhancers	HMEC	breast
21	chr2:172372200-172372800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:172372200-172373000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:172372200-172373000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:172372200-172373200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:172372200-172373400	Enhancers	HSMM	muscle
26	chr2:172372200-172373600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:172372200-172373600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:172372200-172373600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:172372200-172373600	Enhancers	NH-A	brain
30	chr2:172372400-172372600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr2:172372400-172372600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
32	chr2:172372400-172372600	Flanking Active TSS	K562	blood
33	chr2:172372400-172373200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr2:172372400-172373400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:172372400-172376200	Weak transcription	GM12878-XiMat	blood
36	chr2:172372400-172376400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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