Variant report

Variant	rs4687599
Chromosome Location	chr3:51708003-51708004
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr3:51707970-51708201	T-47D	breast:	n/a	n/a
2	POLR2A	chr3:51707924-51708043	MCF-7	breast:	n/a	n/a
3	POLR2A	chr3:51707851-51708470	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:51706347..51708181-chr3:51714827..51717093,2	K562	blood:
2	chr3:51704201..51711015-chr3:51712254..51717093,7	K562	blood:
3	chr3:51702918..51706936-chr3:51707889..51711767,6	MCF-7	breast:

Variant related genes	Relation type
TEX264	TF binding region
ENSG00000164081	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11553574	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12485610	0.87[EUR][1000 genomes]
rs12485825	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12486568	0.87[EUR][1000 genomes]
rs12487426	0.87[EUR][1000 genomes]
rs12487957	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12490471	0.87[EUR][1000 genomes]
rs12492624	0.87[EUR][1000 genomes]
rs12493092	0.80[EUR][1000 genomes]
rs12493265	0.87[EUR][1000 genomes]
rs12493857	0.87[EUR][1000 genomes]
rs12494462	0.87[EUR][1000 genomes]
rs12496340	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13324384	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17051811	0.87[EUR][1000 genomes]
rs2082992	0.87[EUR][1000 genomes]
rs2082993	0.87[EUR][1000 genomes]
rs35536327	0.87[EUR][1000 genomes]
rs4687553	0.87[EUR][1000 genomes]
rs4687563	0.87[EUR][1000 genomes]
rs4687592	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4687605	0.87[EUR][1000 genomes]
rs4687656	0.87[EUR][1000 genomes]
rs4687691	0.87[EUR][1000 genomes]
rs4687769	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4687773	0.80[EUR][1000 genomes]
rs4687774	0.80[EUR][1000 genomes]
rs4687794	0.87[EUR][1000 genomes]
rs55667499	0.87[EUR][1000 genomes]
rs55706150	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55872019	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58059174	0.87[EUR][1000 genomes]
rs58189274	0.87[EUR][1000 genomes]
rs58762652	0.87[EUR][1000 genomes]
rs59034236	0.80[EUR][1000 genomes]
rs59564034	0.87[EUR][1000 genomes]
rs60007226	0.87[EUR][1000 genomes]
rs60606339	0.87[EUR][1000 genomes]
rs61689323	0.87[EUR][1000 genomes]
rs72951443	0.87[EUR][1000 genomes]
rs72951490	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7375146	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73834258	0.87[EUR][1000 genomes]
rs73834265	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9827186	0.87[EUR][1000 genomes]
rs9842600	0.87[EUR][1000 genomes]
rs9843583	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	esv1814919	chr3:51703488-51752684	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51706200-51708200	Enhancers	Spleen	Spleen
2	chr3:51706200-51708400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:51706200-51712800	Weak transcription	Aorta	Aorta
4	chr3:51706400-51708200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:51706400-51708200	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr3:51706400-51708200	Enhancers	Fetal Muscle Trunk	muscle
7	chr3:51706400-51708200	Enhancers	Placenta	Placenta
8	chr3:51706400-51708200	Weak transcription	Ovary	ovary
9	chr3:51706400-51708400	Enhancers	Liver	Liver
10	chr3:51706400-51708400	Enhancers	Brain Angular Gyrus	brain
11	chr3:51706400-51708400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:51706400-51708600	Weak transcription	Brain Germinal Matrix	brain
13	chr3:51706400-51708800	Weak transcription	Thymus	Thymus
14	chr3:51706400-51709600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:51706400-51733400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr3:51706400-51741000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr3:51706600-51708200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:51706600-51708200	Enhancers	Brain Hippocampus Middle	brain
19	chr3:51706600-51708200	Enhancers	Fetal Thymus	thymus
20	chr3:51706600-51708200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr3:51706600-51708400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:51706600-51708400	Enhancers	Brain Anterior Caudate	brain
23	chr3:51706600-51708800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr3:51706600-51708800	Weak transcription	Pancreas	Pancrea
25	chr3:51706600-51708800	Weak transcription	NH-A	brain
26	chr3:51706600-51709000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr3:51706600-51709000	Weak transcription	HSMM	muscle
28	chr3:51706600-51709200	Weak transcription	HSMMtube	muscle
29	chr3:51706600-51709400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr3:51706600-51710000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:51706600-51711600	Weak transcription	Fetal Brain Female	brain
32	chr3:51706600-51714000	Weak transcription	Right Atrium	heart
33	chr3:51706600-51715800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr3:51706600-51716600	Weak transcription	A549	lung
35	chr3:51706600-51719800	Weak transcription	Psoas Muscle	Psoas
36	chr3:51706600-51721200	Weak transcription	Fetal Brain Male	brain
37	chr3:51706600-51724600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr3:51706600-51739600	Weak transcription	Small Intestine	intestine
39	chr3:51706800-51708200	Enhancers	Primary T cells fromperipheralblood	blood
40	chr3:51706800-51708200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:51706800-51708200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:51706800-51708200	Weak transcription	Adipose Nuclei	Adipose
43	chr3:51706800-51708200	Enhancers	Brain Cingulate Gyrus	brain
44	chr3:51706800-51708200	Weak transcription	Fetal Stomach	stomach
45	chr3:51706800-51708400	Enhancers	Primary T cells from cord blood	blood
46	chr3:51706800-51708400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr3:51706800-51708400	Weak transcription	Lung	lung
48	chr3:51706800-51708600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:51706800-51708600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr3:51706800-51708800	Weak transcription	Rectal Smooth Muscle	rectum

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