Variant report

Variant	rs4883264
Chromosome Location	chr12:7649653-7649654
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACSM4-3	chr12:7649137-7650666	NONHSAT026257

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10743939	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10772428	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.90[TSI][hapmap];0.99[ASN][1000 genomes]
rs10845306	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.90[TSI][hapmap];0.98[ASN][1000 genomes]
rs11054180	0.87[ASN][1000 genomes]
rs11054214	0.96[ASN][1000 genomes]
rs11836971	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12809680	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12810262	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3210140	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307454	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv557269	chr12:7623724-7691134	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4883264	CLEC4E	cis	parietal	SCAN
rs4883264	KLRC3	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:7649200-7649800	Genic enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:7649200-7650200	Genic enhancers	Liver	Liver
3	chr12:7649200-7651600	Enhancers	NHEK	skin
4	chr12:7649400-7649800	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr12:7649400-7649800	ZNF genes & repeats	Lung	lung
6	chr12:7649400-7649800	ZNF genes & repeats	Right Atrium	heart
7	chr12:7649400-7650200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:7649400-7650200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr12:7649400-7650200	Genic enhancers	Monocytes-CD14+_RO01746	blood
10	chr12:7649400-7650400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr12:7649400-7650400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr12:7649400-7650400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:7649400-7650800	Enhancers	Adipose Nuclei	Adipose
14	chr12:7649400-7651200	Enhancers	NHDF-Ad	bronchial
15	chr12:7649400-7651800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:7649400-7651800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:7649400-7651800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:7649400-7651800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:7649400-7651800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:7649600-7649800	Enhancers	Duodenum Mucosa	Duodenum
21	chr12:7649600-7650000	Enhancers	Placenta	Placenta
22	chr12:7649600-7651200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr12:7649600-7651200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr12:7649600-7651400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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