Variant report

Variant	rs474430
Chromosome Location	chr11:64167128-64167129
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64166187..64170044-chr11:64170239..64173432,3	K562	blood:
2	chr11:64165676..64167437-chr11:64176684..64179311,2	MCF-7	breast:
3	chr11:64121716..64124578-chr11:64166174..64168592,2	MCF-7	breast:
4	chr11:64140769..64142599-chr11:64166944..64169881,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168071	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10128595	1.00[EUR][1000 genomes]
rs10128649	1.00[EUR][1000 genomes]
rs10556	1.00[EUR][1000 genomes]
rs10732887	0.96[ASN][1000 genomes]
rs1207462	0.94[ASN][1000 genomes]
rs12281471	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12283639	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12574188	0.94[ASN][1000 genomes]
rs12575515	0.94[ASN][1000 genomes]
rs12575690	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12577422	0.96[ASN][1000 genomes]
rs12577425	0.89[ASN][1000 genomes]
rs1468558	1.00[EUR][1000 genomes]
rs1783518	0.96[ASN][1000 genomes]
rs2079786	1.00[EUR][1000 genomes]
rs2232410	1.00[EUR][1000 genomes]
rs2232417	1.00[EUR][1000 genomes]
rs2282548	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2289572	0.85[ASN][1000 genomes]
rs28682946	1.00[EUR][1000 genomes]
rs3759056	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41294424	1.00[EUR][1000 genomes]
rs473379	0.94[ASN][1000 genomes]
rs490720	0.94[ASN][1000 genomes]
rs4930167	0.96[ASN][1000 genomes]
rs493052	1.00[EUR][1000 genomes]
rs494998	0.94[ASN][1000 genomes]
rs4963221	0.84[ASN][1000 genomes]
rs518698	0.96[ASN][1000 genomes]
rs520277	0.96[ASN][1000 genomes]
rs539008	0.94[ASN][1000 genomes]
rs539250	0.96[ASN][1000 genomes]
rs543767	0.92[ASN][1000 genomes]
rs554812	0.94[ASN][1000 genomes]
rs569741	0.94[ASN][1000 genomes]
rs575081	0.94[ASN][1000 genomes]
rs58010797	0.91[ASN][1000 genomes]
rs58488481	0.94[ASN][1000 genomes]
rs60579179	0.91[ASN][1000 genomes]
rs621816	1.00[EUR][1000 genomes]
rs650008	1.00[EUR][1000 genomes]
rs687424	1.00[EUR][1000 genomes]
rs7121001	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7950922	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7951858	1.00[EUR][1000 genomes]
rs7952435	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	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
2	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
3	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64154000-64167600	Weak transcription	Right Atrium	heart
2	chr11:64163800-64167400	Weak transcription	Spleen	Spleen
3	chr11:64163800-64168400	Weak transcription	Ovary	ovary
4	chr11:64164000-64168000	Weak transcription	Fetal Intestine Large	intestine
5	chr11:64164000-64169000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr11:64164000-64170600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:64164200-64167400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr11:64164200-64167400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:64164200-64167600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:64164400-64167400	Weak transcription	Placenta	Placenta
11	chr11:64164400-64167600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:64164400-64167600	Weak transcription	HSMM	muscle
13	chr11:64164400-64171800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:64165800-64171400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:64166000-64167600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:64166200-64167200	Enhancers	Monocytes-CD14+_RO01746	blood

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