Variant report

Variant	rs10948132
Chromosome Location	chr6:44310854-44310855
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44225090..44228269-chr6:44308012..44310883,3	K562	blood:
2	chr6:44279584..44282464-chr6:44309477..44312125,3	K562	blood:
3	chr6:44213758..44215428-chr6:44309293..44311081,2	K562	blood:
4	chr6:44263731..44266404-chr6:44310799..44312396,2	MCF-7	breast:
5	chr6:44279978..44282464-chr6:44309513..44313447,3	K562	blood:

Variant related genes	Relation type
ENSG00000096384	Chromatin interaction
ENSG00000146221	Chromatin interaction
ENSG00000146232	Chromatin interaction
ENSG00000157593	Chromatin interaction
ENSG00000124608	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1122627	0.95[CEU][hapmap]
rs1411903	0.87[EUR][1000 genomes]
rs1411904	0.83[CEU][hapmap];0.82[TSI][hapmap];0.88[EUR][1000 genomes]
rs1909887	0.95[CEU][hapmap];0.95[GIH][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes]
rs2065361	0.95[CEU][hapmap];0.95[GIH][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes]
rs6935721	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs7769100	0.95[CEU][hapmap];0.95[GIH][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes]
rs7769128	0.82[CEU][hapmap];0.92[TSI][hapmap]
rs9462982	0.90[EUR][1000 genomes]
rs9472259	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs9472261	0.88[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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10948132	PEX6	cis	cerebellum	SCAN
rs10948132	SLC25A27	cis	cerebellum	SCAN
rs10948132	RRP36	cis	cerebellum	SCAN
rs10948132	MED20	cis	parietal	SCAN
rs10948132	MRPL14	cis	parietal	SCAN
rs10948132	CD2AP	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44310000-44311000	Flanking Active TSS	Brain Germinal Matrix	brain
2	chr6:44310200-44311000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
3	chr6:44310200-44311000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
4	chr6:44310200-44311000	Bivalent Enhancer	Fetal Brain Male	brain
5	chr6:44310600-44311000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:44310600-44311000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:44310600-44311000	Bivalent Enhancer	Brain Angular Gyrus	brain
8	chr6:44310600-44311000	Bivalent Enhancer	Placenta	Placenta
9	chr6:44310600-44311600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:44310600-44317600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:44310800-44311000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
12	chr6:44310800-44311000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr6:44310800-44311000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:44310800-44311000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:44310800-44311000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
16	chr6:44310800-44311000	Bivalent Enhancer	Brain Hippocampus Middle	brain
17	chr6:44310800-44311000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:44310800-44311200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr6:44310800-44312200	Weak transcription	Ovary	ovary
20	chr6:44310800-44314400	Weak transcription	Pancreas	Pancrea

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