Variant report

Variant	rs4865177
Chromosome Location	chr4:57948508-57948509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:57947814..57949862-chr4:57955509..57958047,2	MCF-7	breast:
2	chr4:57947462..57949584-chr4:57951331..57953950,2	K562	blood:
3	chr4:57943158..57945422-chr4:57946459..57948764,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10016108	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs11133472	1.00[CHB][hapmap]
rs11573041	1.00[CHB][hapmap]
rs11573128	1.00[CHB][hapmap]
rs11732394	1.00[CHB][hapmap]
rs13125082	1.00[CHB][hapmap]
rs13146090	1.00[CHB][hapmap]
rs13146153	1.00[CHB][hapmap]
rs1618761	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs17087358	1.00[CHB][hapmap]
rs17183291	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs1718846	1.00[CHB][hapmap]
rs1718848	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17787430	0.87[ASN][1000 genomes]
rs35174788	1.00[ASN][1000 genomes]
rs4109037	1.00[CHB][hapmap]
rs41495551	1.00[CHB][hapmap]
rs4865175	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4865176	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs62308281	1.00[ASN][1000 genomes]
rs62308282	1.00[ASN][1000 genomes]
rs6554413	0.87[ASN][1000 genomes]
rs67355508	1.00[ASN][1000 genomes]
rs73242639	1.00[ASN][1000 genomes]
rs7656865	1.00[CHB][hapmap]

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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4865177	MAGI3	trans	brain	seeQTL

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57934400-57951600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:57938000-57955800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr4:57939800-57949800	Enhancers	HMEC	breast
4	chr4:57942800-57960400	Weak transcription	Psoas Muscle	Psoas
5	chr4:57943200-57950000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:57943800-57948600	Enhancers	HSMM	muscle
7	chr4:57943800-57950200	Enhancers	NHLF	lung
8	chr4:57944400-57964000	Weak transcription	Fetal Thymus	thymus
9	chr4:57944800-57950000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:57945000-57950000	Enhancers	NHDF-Ad	bronchial
11	chr4:57945200-57958000	Weak transcription	Gastric	stomach
12	chr4:57945200-57960400	Weak transcription	Pancreas	Pancrea
13	chr4:57945400-57948600	Enhancers	Brain Hippocampus Middle	brain
14	chr4:57945400-57948800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:57945400-57950000	Enhancers	NHEK	skin
16	chr4:57945600-57948600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:57945600-57948600	Enhancers	Colon Smooth Muscle	Colon
18	chr4:57945600-57948800	Enhancers	Fetal Kidney	kidney
19	chr4:57945800-57948600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:57946000-57950000	Enhancers	Left Ventricle	heart
21	chr4:57946200-57948600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:57946200-57949200	Enhancers	Right Atrium	heart
23	chr4:57946600-57949800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:57946600-57950800	Genic enhancers	NH-A	brain
25	chr4:57946800-57949200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr4:57946800-57950000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:57946800-57950000	Enhancers	Adipose Nuclei	Adipose
28	chr4:57946800-57950000	Enhancers	Ovary	ovary
29	chr4:57947000-57950000	Enhancers	HSMMtube	muscle
30	chr4:57947200-57948600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:57947200-57949000	Weak transcription	Small Intestine	intestine
32	chr4:57947200-57949600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:57947200-57950600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:57947200-57958000	Weak transcription	Aorta	Aorta
35	chr4:57947400-57949000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:57947400-57950000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:57947800-57948600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:57947800-57948600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr4:57948000-57955600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr4:57948000-57955800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr4:57948200-57948600	Transcr. at gene 5' and 3'	Osteobl	bone
42	chr4:57948200-57948800	Enhancers	Stomach Smooth Muscle	stomach
43	chr4:57948200-57949000	Weak transcription	Fetal Muscle Leg	muscle
44	chr4:57948200-57949400	Weak transcription	Fetal Lung	lung
45	chr4:57948200-57949600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr4:57948200-57950800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:57948200-57951000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:57948200-57951000	Enhancers	HUVEC	blood vessel
49	chr4:57948200-57951600	Weak transcription	Fetal Heart	heart
50	chr4:57948200-57952000	Weak transcription	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links