Variant report

Variant	rs2364443
Chromosome Location	chr2:31135055-31135056
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	chr2:31135000..31137964-chr2:31140484..31143173,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1520320	1.00[EUR][1000 genomes]
rs17010291	1.00[EUR][1000 genomes]
rs17010400	1.00[EUR][1000 genomes]
rs17010520	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs58134239	1.00[EUR][1000 genomes]
rs61192561	1.00[EUR][1000 genomes]
rs6728039	1.00[MEX][hapmap]
rs72867186	1.00[EUR][1000 genomes]
rs73921200	1.00[EUR][1000 genomes]
rs73921202	1.00[EUR][1000 genomes]
rs73922696	1.00[EUR][1000 genomes]
rs73923305	1.00[EUR][1000 genomes]
rs73923309	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833659	chr2:31020572-31171505	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2364443	ST8SIA1	trans	lymphoblastoid	seeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31122200-31143800	Weak transcription	Esophagus	oesophagus
2	chr2:31122800-31191400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:31124600-31146800	Weak transcription	NHEK	skin
4	chr2:31127400-31159600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:31130600-31152000	Weak transcription	Fetal Brain Female	brain
6	chr2:31132000-31146400	Weak transcription	HMEC	breast
7	chr2:31132200-31146800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:31132200-31149000	Weak transcription	Spleen	Spleen
9	chr2:31133200-31135600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:31133800-31138200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:31133800-31146400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:31133800-31146400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:31134000-31135400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:31134000-31137400	Weak transcription	A549	lung
15	chr2:31134000-31146600	Weak transcription	Brain Germinal Matrix	brain
16	chr2:31134400-31155600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:31134800-31146200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:31134800-31146400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:31135000-31137600	Weak transcription	Primary B cells from cord blood	blood
20	chr2:31135000-31142200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:31135000-31143600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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