Variant report

Variant	rs12420021
Chromosome Location	chr11:77298406-77298407
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	chr11:77292199..77294445-chr11:77297490..77299940,2	K562	blood:

Extended variants
information (count: 236 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:227)

rs_ID	r²[population]
rs11237234	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11237271	0.84[EUR][1000 genomes]
rs11237274	0.84[EUR][1000 genomes]
rs11822592	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11823751	0.84[EUR][1000 genomes]
rs11824150	0.84[EUR][1000 genomes]
rs11825573	0.84[EUR][1000 genomes]
rs11827357	0.83[EUR][1000 genomes]
rs11828664	0.81[EUR][1000 genomes]
rs12417215	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417488	0.84[EUR][1000 genomes]
rs12417823	0.84[EUR][1000 genomes]
rs12418152	0.84[EUR][1000 genomes]
rs12418261	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12418476	0.84[EUR][1000 genomes]
rs12418559	0.84[EUR][1000 genomes]
rs12418734	0.84[EUR][1000 genomes]
rs12418844	0.84[EUR][1000 genomes]
rs12419186	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12419685	0.84[EUR][1000 genomes]
rs12420401	0.83[EUR][1000 genomes]
rs12421391	0.84[EUR][1000 genomes]
rs12421695	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421699	0.84[EUR][1000 genomes]
rs12574660	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12574999	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12575014	0.84[EUR][1000 genomes]
rs12575150	0.84[EUR][1000 genomes]
rs12575305	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12575763	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12577362	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12577552	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12806790	0.81[EUR][1000 genomes]
rs1540179	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1544272	0.84[EUR][1000 genomes]
rs1544273	0.84[EUR][1000 genomes]
rs1544274	0.84[EUR][1000 genomes]
rs17135800	0.84[EUR][1000 genomes]
rs17135807	0.84[EUR][1000 genomes]
rs17135809	0.84[EUR][1000 genomes]
rs17135811	0.84[EUR][1000 genomes]
rs1892869	0.84[EUR][1000 genomes]
rs1893901	0.84[EUR][1000 genomes]
rs1945751	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1986277	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1986474	0.84[EUR][1000 genomes]
rs2154973	0.84[EUR][1000 genomes]
rs2154988	0.84[EUR][1000 genomes]
rs2156842	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186573	0.84[EUR][1000 genomes]
rs2187547	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2276415	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2276416	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2298820	0.84[EUR][1000 genomes]
rs28421376	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28730304	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28930682	0.84[EUR][1000 genomes]
rs34446294	0.84[EUR][1000 genomes]
rs35774637	0.84[EUR][1000 genomes]
rs3781616	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3781617	0.84[EUR][1000 genomes]
rs3819211	0.84[EUR][1000 genomes]
rs3949117	0.84[EUR][1000 genomes]
rs4269952	0.82[EUR][1000 genomes]
rs4301811	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4399350	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4486654	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4531493	0.84[EUR][1000 genomes]
rs4553396	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4578411	0.82[EUR][1000 genomes]
rs4606503	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944169	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4944170	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4944171	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4944173	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4944175	0.84[EUR][1000 genomes]
rs4945182	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945183	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945186	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4945187	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4945189	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4945190	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4945191	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4945192	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4945197	0.84[EUR][1000 genomes]
rs4945202	0.84[EUR][1000 genomes]
rs4945203	0.84[EUR][1000 genomes]
rs4945204	0.84[EUR][1000 genomes]
rs4945205	0.84[EUR][1000 genomes]
rs4945209	0.84[EUR][1000 genomes]
rs4945210	0.84[EUR][1000 genomes]
rs4945211	0.84[EUR][1000 genomes]
rs4945212	0.84[EUR][1000 genomes]
rs4945213	0.84[EUR][1000 genomes]
rs4945214	0.84[EUR][1000 genomes]
rs4945215	0.84[EUR][1000 genomes]
rs4945218	0.84[EUR][1000 genomes]
rs4945219	0.84[EUR][1000 genomes]
rs55881536	0.84[EUR][1000 genomes]
rs56175172	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56817084	0.84[EUR][1000 genomes]
rs57332020	0.85[EUR][1000 genomes]
rs57362996	0.84[EUR][1000 genomes]
rs57588070	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57687790	0.82[EUR][1000 genomes]
rs57805854	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57935035	0.84[EUR][1000 genomes]
rs58367448	0.84[EUR][1000 genomes]
rs58393579	0.84[EUR][1000 genomes]
rs58395847	0.84[EUR][1000 genomes]
rs58608947	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58720932	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58914857	0.84[EUR][1000 genomes]
rs59191974	0.84[EUR][1000 genomes]
rs59404463	0.84[EUR][1000 genomes]
rs59459776	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59520338	0.84[EUR][1000 genomes]
rs59581090	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59765258	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59832115	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59969402	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59983642	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60045757	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60132034	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60186049	0.84[EUR][1000 genomes]
rs60842160	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60849458	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60929773	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60948958	0.84[EUR][1000 genomes]
rs61201484	0.84[EUR][1000 genomes]
rs61358482	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61361232	0.84[EUR][1000 genomes]
rs61397357	0.84[EUR][1000 genomes]
rs61468764	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61576111	0.84[EUR][1000 genomes]
rs6592736	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6592740	0.82[EUR][1000 genomes]
rs6592742	0.84[EUR][1000 genomes]
rs66472445	0.84[EUR][1000 genomes]
rs66488360	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66504136	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66658383	0.84[EUR][1000 genomes]
rs66664368	0.83[EUR][1000 genomes]
rs66675536	0.84[EUR][1000 genomes]
rs66681087	0.84[EUR][1000 genomes]
rs66684353	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66738005	0.84[EUR][1000 genomes]
rs66895426	0.84[EUR][1000 genomes]
rs66924979	0.84[EUR][1000 genomes]
rs66991096	0.84[EUR][1000 genomes]
rs67035387	0.84[EUR][1000 genomes]
rs67062156	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67195676	0.84[EUR][1000 genomes]
rs67200285	0.84[EUR][1000 genomes]
rs67230007	0.84[EUR][1000 genomes]
rs67241586	0.84[EUR][1000 genomes]
rs67291795	0.84[EUR][1000 genomes]
rs67313689	0.84[EUR][1000 genomes]
rs67555375	0.84[EUR][1000 genomes]
rs67680371	0.84[EUR][1000 genomes]
rs67724005	0.84[EUR][1000 genomes]
rs67736392	0.84[EUR][1000 genomes]
rs67769372	0.84[EUR][1000 genomes]
rs67775318	0.84[EUR][1000 genomes]
rs67807487	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67843465	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67881763	0.88[EUR][1000 genomes]
rs68013767	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs68052959	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68146267	0.84[EUR][1000 genomes]
rs7104540	0.84[EUR][1000 genomes]
rs7105526	0.84[EUR][1000 genomes]
rs7106113	0.84[EUR][1000 genomes]
rs7106659	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7109199	0.84[EUR][1000 genomes]
rs7109398	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7109527	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7109704	0.84[EUR][1000 genomes]
rs7110844	0.84[EUR][1000 genomes]
rs7113415	0.84[EUR][1000 genomes]
rs7116671	0.84[EUR][1000 genomes]
rs7118516	0.84[EUR][1000 genomes]
rs7119471	0.84[EUR][1000 genomes]
rs7119934	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7120465	0.84[EUR][1000 genomes]
rs7123204	0.84[EUR][1000 genomes]
rs7124030	0.84[EUR][1000 genomes]
rs7124116	0.84[EUR][1000 genomes]
rs7124753	0.84[EUR][1000 genomes]
rs7127803	0.84[EUR][1000 genomes]
rs7128881	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs713083	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7131169	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7131298	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs720383	0.84[EUR][1000 genomes]
rs72931818	0.84[EUR][1000 genomes]
rs72931829	0.84[EUR][1000 genomes]
rs72943487	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72943494	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72943497	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72945524	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72945540	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72945566	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72945586	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72947653	0.84[EUR][1000 genomes]
rs72949614	0.84[EUR][1000 genomes]
rs72949656	0.84[EUR][1000 genomes]
rs73491984	0.84[EUR][1000 genomes]
rs7482006	0.82[EUR][1000 genomes]
rs7925252	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7930066	0.84[EUR][1000 genomes]
rs7930885	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7930988	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7931215	0.84[EUR][1000 genomes]
rs7932057	0.84[EUR][1000 genomes]
rs7932111	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932603	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7933197	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7936904	0.84[EUR][1000 genomes]
rs7939623	0.84[EUR][1000 genomes]
rs7941418	0.84[EUR][1000 genomes]
rs7942838	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7947430	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947859	0.80[EUR][1000 genomes]
rs7950612	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950631	0.84[EUR][1000 genomes]
rs7951172	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv2752651	chr11:77211136-77318279	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1038974	chr11:77284036-77431228	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1041384	chr11:77284558-77419809	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1048892	chr11:77290458-77431228	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv1053074	chr11:77290458-77435831	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs12420021	RSF1	Cis_1M	lymphoblastoid	RTeQTL
rs12420021	RP11-91P24.7	cis	Artery Tibial	GTEx
rs12420021	AAMDC	cis	Thyroid	GTEx
rs12420021	INTS4	Cis_1M	lymphoblastoid	RTeQTL
rs12420021	RP11-91P24.6	cis	Thyroid	GTEx
rs12420021	AAMDC	cis	Artery Tibial	GTEx
rs12420021	RP11-91P24.7	cis	Thyroid	GTEx
rs12420021	RP11-91P24.6	cis	Artery Tibial	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77280800-77299600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:77287800-77299600	Weak transcription	Ovary	ovary
3	chr11:77293000-77299800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:77294800-77300000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:77296000-77299800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:77298200-77298600	Enhancers	Fetal Intestine Small	intestine
7	chr11:77298400-77299600	Weak transcription	Duodenum Mucosa	Duodenum

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