Variant report

Variant	rs2718090
Chromosome Location	chr7:128933804-128933805
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128922428..128924409-chr7:128932631..128935338,2	MCF-7	breast:
2	chr7:128858173..128859059-chr7:128933770..128935063,3	K562	blood:
3	chr7:128928951..128931108-chr7:128932317..128934705,2	K562	blood:

Variant related genes	Relation type
ENSG00000158467	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10215998	1.00[EUR][1000 genomes]
rs10235589	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10249336	0.82[AFR][1000 genomes]
rs10255583	0.88[AFR][1000 genomes]
rs10264209	0.81[LWK][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes]
rs10269495	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10281269	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12533108	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13240723	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs1405475	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1469554	1.00[EUR][1000 genomes]
rs1526898	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1526899	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1549788	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1609043	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1991645	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2052962	0.87[AMR][1000 genomes]
rs2402946	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2402947	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2463096	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2566875	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2566881	1.00[MEX][hapmap];0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs2566882	0.85[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs2694570	0.86[AFR][1000 genomes]
rs2694575	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2694576	0.85[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs2694577	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2694583	0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2694591	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718085	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718091	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718092	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718097	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718100	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28399138	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28437865	0.87[AMR][1000 genomes]
rs28475451	0.87[AMR][1000 genomes]
rs28864519	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2896414	0.93[AFR][1000 genomes]
rs4731567	1.00[EUR][1000 genomes]
rs6467234	1.00[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6467236	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6467239	0.82[AFR][1000 genomes]
rs6949882	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6950279	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6950496	0.90[AFR][1000 genomes]
rs6970267	0.97[AFR][1000 genomes]
rs71529418	0.92[AFR][1000 genomes]
rs71577870	0.92[AFR][1000 genomes]
rs7805353	0.87[AMR][1000 genomes]
rs9641847	0.82[ASW][hapmap];1.00[EUR][1000 genomes]
rs9641848	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525482	chr7:128890812-129045191	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv516498	chr7:128901429-129072024	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv3331483	chr7:128918442-129082887	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128902600-128934000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr7:128911000-128934400	Weak transcription	Brain Angular Gyrus	brain
3	chr7:128912200-128947000	Weak transcription	Pancreas	Pancrea
4	chr7:128913200-128940800	Weak transcription	Aorta	Aorta
5	chr7:128914000-128934400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:128914800-128934600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:128914800-128934800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:128914800-128935000	Weak transcription	Fetal Brain Female	brain
9	chr7:128915000-128962600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:128915200-128934800	Weak transcription	Fetal Intestine Small	intestine
11	chr7:128920000-128934400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:128920000-128951600	Weak transcription	Primary T cells from cord blood	blood
13	chr7:128920400-128934200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:128920400-128934800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:128923200-128934400	Weak transcription	NHEK	skin
16	chr7:128925400-128934800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:128925800-128934200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:128925800-128934600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:128925800-128935800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:128925800-128947600	Weak transcription	Ovary	ovary
21	chr7:128927400-128934800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:128929200-128963800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:128930000-128934800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr7:128930000-128937400	Weak transcription	Fetal Stomach	stomach
25	chr7:128930600-128934600	Weak transcription	Liver	Liver
26	chr7:128932800-128938800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:128933400-128936400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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