Variant report

Variant	rs17016284
Chromosome Location	chr4:143437019-143437020
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:143391320..143397090-chr4:143436268..143441588,7	MCF-7	breast:
2	chr4:143436540..143438888-chr4:143456433..143458379,2	MCF-7	breast:
3	chr4:143436234..143437895-chr4:143469778..143471517,2	MCF-7	breast:
4	chr4:143431692..143434414-chr4:143436305..143438204,2	MCF-7	breast:
5	chr4:143389462..143399452-chr4:143428707..143442488,28	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109452	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10012476	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10015184	0.83[AMR][1000 genomes]
rs1013397	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12642500	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12643136	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12644565	0.83[AMR][1000 genomes]
rs12646243	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12649139	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1364917	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1364918	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1364919	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1364920	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1364926	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1425534	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1425535	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1425538	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17016170	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17016207	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17016248	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17016304	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2042644	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2162108	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2322705	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2322706	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2322796	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28510314	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28823374	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs28850298	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs28861843	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs34900920	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4345256	0.83[AMR][1000 genomes]
rs57724540	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59784151	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60004938	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6823362	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7668133	0.83[AMR][1000 genomes]
rs7699408	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9308152	0.83[AMR][1000 genomes]
rs9986090	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9998089	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143428800-143453000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:143431800-143437600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:143433400-143437600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:143433800-143437200	Weak transcription	NHEK	skin
5	chr4:143433800-143437400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:143434000-143437600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:143434000-143437600	Weak transcription	Osteobl	bone
8	chr4:143434000-143440600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:143436600-143438000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:143436600-143438800	Enhancers	HMEC	breast
11	chr4:143436600-143440000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:143436600-143440000	Enhancers	Dnd41	blood
13	chr4:143436800-143437600	Weak transcription	Left Ventricle	heart

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