Variant report

Variant	rs4851231
Chromosome Location	chr2:100385671-100385672
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100380582..100383387-chr2:100384960..100390106,4	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10191816	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10194527	0.83[ASN][1000 genomes]
rs10198310	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10199548	0.89[ASN][1000 genomes]
rs10199818	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10204617	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10496340	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10865032	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11123793	0.86[EUR][1000 genomes]
rs11123794	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11123795	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11123796	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11682978	0.87[EUR][1000 genomes]
rs11690403	0.85[EUR][1000 genomes]
rs11888741	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12712059	0.87[EUR][1000 genomes]
rs12712060	0.85[ASN][1000 genomes]
rs13010551	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1344701	0.82[ASN][1000 genomes]
rs1344702	0.83[ASN][1000 genomes]
rs1366761	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1366763	0.80[ASN][1000 genomes]
rs1366766	0.84[ASN][1000 genomes]
rs1404175	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1404177	0.87[EUR][1000 genomes]
rs1429268	0.82[ASN][1000 genomes]
rs1429269	0.82[ASN][1000 genomes]
rs1568786	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1594111	0.80[ASN][1000 genomes]
rs1594113	0.80[ASN][1000 genomes]
rs1608640	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2030690	0.81[EUR][1000 genomes]
rs2115600	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2309650	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2309690	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2871310	0.80[ASN][1000 genomes]
rs3863005	0.87[EUR][1000 genomes]
rs3915083	0.87[EUR][1000 genomes]
rs4286327	0.80[ASN][1000 genomes]
rs4481043	0.84[ASN][1000 genomes]
rs4521099	0.82[ASN][1000 genomes]
rs4850914	0.88[EUR][1000 genomes]
rs4851225	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4851226	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4851228	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4851230	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4851235	0.82[ASN][1000 genomes]
rs62147565	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6542891	0.82[EUR][1000 genomes]
rs6542900	0.82[ASN][1000 genomes]
rs6542901	0.82[ASN][1000 genomes]
rs6723474	0.83[ASN][1000 genomes]
rs6725716	0.85[ASN][1000 genomes]
rs6739478	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6739601	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6741990	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6756009	0.82[EUR][1000 genomes]
rs6757262	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6758027	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7559975	0.89[EUR][1000 genomes]
rs7560078	0.85[ASN][1000 genomes]
rs7562121	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7566083	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7582469	0.87[EUR][1000 genomes]
rs7584365	0.87[EUR][1000 genomes]
rs7589376	0.82[EUR][1000 genomes]
rs7596023	0.85[ASN][1000 genomes]
rs7602699	0.80[EUR][1000 genomes]
rs9967704	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2757820	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2759078	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4851231	NFXL1	trans	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100357600-100389400	Weak transcription	Thymus	Thymus
2	chr2:100360000-100394600	Weak transcription	Dnd41	blood
3	chr2:100367800-100386400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:100373200-100386000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:100377800-100386800	Strong transcription	Primary B cells from cord blood	blood
6	chr2:100379800-100386400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:100380000-100393200	Weak transcription	Primary T cells from cord blood	blood
8	chr2:100382400-100386200	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr2:100382400-100390600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:100383800-100388600	Weak transcription	Ovary	ovary
11	chr2:100384200-100386400	Weak transcription	Placenta	Placenta
12	chr2:100384200-100404400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:100385200-100385800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:100385400-100387200	ZNF genes & repeats	Primary B cells from peripheral blood	blood

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