Variant report

Variant	rs4971049
Chromosome Location	chr1:151442251-151442252
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151429107..151437905-chr1:151438450..151450094,72	MCF-7	breast:
2	chr1:151431371..151433160-chr1:151441168..151442817,2	K562	blood:
3	chr1:151440909..151442802-chr1:151483388..151486239,2	MCF-7	breast:
4	chr1:151441887..151444384-chr1:151490062..151492746,2	MCF-7	breast:
5	chr1:151282656..151285625-chr1:151441410..151443712,3	MCF-7	breast:
6	chr1:151440353..151442706-chr1:151445667..151448207,3	K562	blood:
7	chr1:151428774..151440655-chr1:151441400..151449246,52	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143375	Chromatin interaction
ENSG00000143442	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10736380	0.85[EUR][1000 genomes]
rs10749662	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11204807	1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11204808	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11204809	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11204811	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11204815	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11204819	0.89[EUR][1000 genomes]
rs11204824	0.90[EUR][1000 genomes]
rs11578888	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11583968	0.89[EUR][1000 genomes]
rs11584694	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11589645	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11801791	0.90[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12025432	0.87[EUR][1000 genomes]
rs12029691	0.85[EUR][1000 genomes]
rs12044242	0.81[EUR][1000 genomes]
rs12047617	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12068166	0.85[EUR][1000 genomes]
rs12068368	0.87[EUR][1000 genomes]
rs12071705	0.87[EUR][1000 genomes]
rs12120726	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12125310	0.86[EUR][1000 genomes]
rs12740875	0.87[EUR][1000 genomes]
rs12751531	0.87[EUR][1000 genomes]
rs1342929	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1887544	0.85[EUR][1000 genomes]
rs1887545	0.85[EUR][1000 genomes]
rs2274533	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2274534	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2274535	0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2479379	0.85[EUR][1000 genomes]
rs2479385	0.85[EUR][1000 genomes]
rs2495380	0.85[EUR][1000 genomes]
rs2864122	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3118720	0.85[EUR][1000 genomes]
rs34884031	0.86[EUR][1000 genomes]
rs3748550	0.85[EUR][1000 genomes]
rs3976737	1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4246526	1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4246527	0.87[EUR][1000 genomes]
rs4364884	0.89[EUR][1000 genomes]
rs4528122	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4603	0.85[EUR][1000 genomes]
rs4971040	0.81[AMR][1000 genomes]
rs4971042	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4971043	0.85[EUR][1000 genomes]
rs61818036	0.80[AMR][1000 genomes]
rs61818037	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61818039	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6587572	0.85[EUR][1000 genomes]
rs6587573	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6587577	0.87[EUR][1000 genomes]
rs6587584	0.89[EUR][1000 genomes]
rs6587585	0.90[EUR][1000 genomes]
rs6684333	0.89[EUR][1000 genomes]
rs6689436	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7172	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7542776	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7546151	0.87[EUR][1000 genomes]
rs7546933	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][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	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4971049	SELENBP1	cis	Thyroid	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151431000-151445000	Weak transcription	Spleen	Spleen
2	chr1:151432600-151445000	Weak transcription	Fetal Intestine Small	intestine
3	chr1:151432600-151445000	Weak transcription	Pancreas	Pancrea
4	chr1:151438200-151442800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:151440800-151445800	Weak transcription	Gastric	stomach

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