Variant report

Variant	rs714855
Chromosome Location	chr2:39768483-39768484
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39767599..39769475-chr2:39773569..39776768,3	MCF-7	breast:
2	chr2:39763950..39765792-chr2:39766924..39769865,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11124685	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs11124686	0.91[ASN][1000 genomes]
rs12712645	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1526024	0.83[ASN][1000 genomes]
rs1526027	0.82[AMR][1000 genomes]
rs2241162	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6741839	0.83[ASN][1000 genomes]
rs6745941	0.83[AMR][1000 genomes]
rs6753798	0.91[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs7565507	0.90[ASN][1000 genomes]
rs7591326	0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7608399	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[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	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs714855	MAP4K3	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39753400-39768600	Weak transcription	Right Atrium	heart
2	chr2:39761800-39769800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:39761800-39777600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:39762200-39785000	Weak transcription	HSMMtube	muscle
5	chr2:39763000-39769400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:39763000-39773600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:39766200-39770000	Enhancers	Left Ventricle	heart
8	chr2:39767000-39769000	Enhancers	Pancreas	Pancrea
9	chr2:39767200-39769200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr2:39767400-39768600	Enhancers	Fetal Kidney	kidney
11	chr2:39767400-39769200	Enhancers	Fetal Heart	heart
12	chr2:39767600-39768600	Weak transcription	Psoas Muscle	Psoas
13	chr2:39767800-39768600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:39767800-39775000	Weak transcription	Aorta	Aorta
15	chr2:39768000-39768600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:39768200-39768600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:39768200-39768600	Enhancers	Brain Anterior Caudate	brain
18	chr2:39768200-39768600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr2:39768200-39770200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:39768400-39768600	Enhancers	HepG2	liver
21	chr2:39768400-39769000	Enhancers	K562	blood
22	chr2:39768400-39769200	Enhancers	Right Ventricle	heart
23	chr2:39768400-39770000	Enhancers	Skeletal Muscle Female	skeletal muscle

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