Variant report

Variant	rs12498437
Chromosome Location	chr4:99162266-99162267
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99157632..99160467-chr4:99160653..99163373,3	K562	blood:

Extended variants
information (count: 158 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs10002767	0.85[ASN][1000 genomes]
rs10005811	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10006820	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10012125	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10014034	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10014088	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10018670	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10022047	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10023500	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10028275	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10028373	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10029454	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10454790	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10470895	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10470952	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10516429	0.85[ASN][1000 genomes]
rs12498745	1.00[ASN][1000 genomes]
rs12499009	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12499530	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12499799	0.85[ASN][1000 genomes]
rs12500533	0.81[ASN][1000 genomes]
rs12501974	1.00[ASN][1000 genomes]
rs12502351	0.85[ASN][1000 genomes]
rs12503117	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12503806	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12507425	0.85[ASN][1000 genomes]
rs12507859	0.85[ASN][1000 genomes]
rs12508445	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12509125	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12509417	0.85[ASN][1000 genomes]
rs12510055	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12510095	0.85[ASN][1000 genomes]
rs12510670	0.93[ASN][1000 genomes]
rs12511262	0.85[ASN][1000 genomes]
rs12512117	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13353584	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1453344	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1453345	1.00[ASN][1000 genomes]
rs1533328	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1580065	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1580066	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027330	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17027331	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17027339	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17027386	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027412	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027449	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027452	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027454	0.92[ASN][1000 genomes]
rs17027530	0.85[ASN][1000 genomes]
rs17027532	0.85[ASN][1000 genomes]
rs17027533	0.85[ASN][1000 genomes]
rs17027543	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17027545	0.85[ASN][1000 genomes]
rs17027549	0.85[ASN][1000 genomes]
rs17027552	0.85[ASN][1000 genomes]
rs1913489	0.85[ASN][1000 genomes]
rs1913490	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2042653	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2042654	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2063746	0.85[ASN][1000 genomes]
rs2081490	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2194896	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28367114	0.85[ASN][1000 genomes]
rs28372185	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28409461	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28470922	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28472839	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28484692	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28536684	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28540371	0.93[ASN][1000 genomes]
rs28603037	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28612663	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28613236	0.93[ASN][1000 genomes]
rs28644420	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28656298	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28667784	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28703816	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28715883	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28862004	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35484325	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3775538	0.85[ASN][1000 genomes]
rs3822115	0.85[ASN][1000 genomes]
rs3974886	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4321644	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4557264	1.00[ASN][1000 genomes]
rs4593139	0.85[ASN][1000 genomes]
rs4699333	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4699334	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699335	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699336	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699338	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4699341	0.85[ASN][1000 genomes]
rs4699614	0.85[ASN][1000 genomes]
rs4699616	0.93[ASN][1000 genomes]
rs4699617	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699622	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4699623	0.85[ASN][1000 genomes]
rs56376105	0.85[ASN][1000 genomes]
rs56987276	0.81[ASN][1000 genomes]
rs58118567	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs60613860	0.85[ASN][1000 genomes]
rs6532732	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6811422	0.81[ASN][1000 genomes]
rs6814081	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6814168	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6820913	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6821608	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6822914	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6828936	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6831497	0.85[ASN][1000 genomes]
rs6831730	0.85[ASN][1000 genomes]
rs6833504	0.85[ASN][1000 genomes]
rs6833596	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6835411	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6843874	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6846417	0.85[ASN][1000 genomes]
rs72894301	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72896317	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72896364	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72898360	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72898390	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72898391	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7440164	0.85[ASN][1000 genomes]
rs7654379	0.85[ASN][1000 genomes]
rs7654497	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7655147	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7655427	0.85[ASN][1000 genomes]
rs7656017	0.85[ASN][1000 genomes]
rs7663435	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7676060	0.85[ASN][1000 genomes]
rs7678942	0.85[ASN][1000 genomes]
rs7683964	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7687685	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7692963	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7694221	0.85[ASN][1000 genomes]
rs7695463	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs890207	1.00[ASN][1000 genomes]
rs919027	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs919028	1.00[ASN][1000 genomes]
rs9990962	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9992518	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9996568	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9997665	0.85[ASN][1000 genomes]
rs9997666	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1000956	chr4:98732458-99178588	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1001570	chr4:98976239-99239838	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv879650	chr4:99057457-99172232	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv461595	chr4:99065480-99172175	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv594939	chr4:99065480-99172175	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1004616	chr4:99085875-99308901	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv2763801	chr4:99094892-99413853	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv879651	chr4:99105055-99441349	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv879652	chr4:99125659-99303633	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv528127	chr4:99146436-99229839	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv879653	chr4:99152631-99260423	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99153800-99163000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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