Variant report

Variant	rs3843492
Chromosome Location	chr5:107140556-107140557
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	chr5:107139921..107141469-chr5:107142790..107144472,2	K562	blood:
2	chr5:107125029..107126613-chr5:107139861..107141985,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10515380	0.82[ASN][1000 genomes]
rs12186563	0.82[ASN][1000 genomes]
rs12187616	0.82[ASN][1000 genomes]
rs12513976	0.82[ASN][1000 genomes]
rs12520230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17369104	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.82[ASN][1000 genomes]
rs17435188	0.82[ASN][1000 genomes]
rs3842914	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3842915	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3843491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62355954	0.82[ASN][1000 genomes]
rs62355956	0.82[ASN][1000 genomes]
rs6864994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7736608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830440	chr5:107074116-107278905	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv969928	chr5:107132237-107143800	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1022155	chr5:107138981-107149604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3843492	MOV10	trans	lymphoblastoid	seeQTL
rs3843492	CAMK4	cis	cerebellum	SCAN
rs3843492	FBXL17	Cis_1M	lymphoblastoid	RTeQTL
rs3843492	SLC25A46	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107135400-107140600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:107135400-107143000	Weak transcription	Right Atrium	heart
3	chr5:107135600-107140800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:107135600-107140800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:107135800-107140600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:107135800-107140800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:107135800-107140800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:107135800-107141400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:107136000-107141000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:107137800-107141400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr5:107138400-107144800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:107139200-107141200	Enhancers	Dnd41	blood
13	chr5:107139800-107142000	Weak transcription	NHDF-Ad	bronchial
14	chr5:107140200-107144200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:107140200-107144400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:107140400-107141000	Enhancers	Primary T cells from cord blood	blood
17	chr5:107140400-107141400	Enhancers	Fetal Intestine Large	intestine
18	chr5:107140400-107144000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:107140400-107144000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr5:107140400-107144200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:107140400-107148800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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