Variant report

Variant	rs11830501
Chromosome Location	chr12:46998657-46998658
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46760405..46763047-chr12:46997167..46998956,2	K562	blood:
2	chr12:46996953..46999304-chr12:47001117..47002975,3	K562	blood:
3	chr12:46997151..46999304-chr12:47001117..47002975,2	K562	blood:
4	chr12:46996986..46999798-chr12:47001476..47004365,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 148 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs10785631	0.82[EUR][1000 genomes]
rs10880975	0.82[EUR][1000 genomes]
rs10880976	0.82[EUR][1000 genomes]
rs10880977	0.82[EUR][1000 genomes]
rs10880980	0.93[EUR][1000 genomes]
rs11183507	0.82[EUR][1000 genomes]
rs11183524	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183536	0.95[EUR][1000 genomes]
rs11183539	0.88[EUR][1000 genomes]
rs11183547	0.88[EUR][1000 genomes]
rs11183550	0.88[EUR][1000 genomes]
rs11504523	0.82[EUR][1000 genomes]
rs11829502	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11830099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831177	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11831920	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11831929	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11832316	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11833393	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834607	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835517	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835974	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836915	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11836940	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11837104	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12300125	0.95[EUR][1000 genomes]
rs12578813	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12579089	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12579348	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12579976	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580092	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580356	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12580488	0.89[EUR][1000 genomes]
rs12581205	0.84[EUR][1000 genomes]
rs12581311	0.89[EUR][1000 genomes]
rs12581366	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12582013	0.89[EUR][1000 genomes]
rs12582056	0.88[EUR][1000 genomes]
rs12582476	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17096991	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17096995	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17097002	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17097009	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097022	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121410	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121412	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17594275	0.89[EUR][1000 genomes]
rs17611638	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1946175	0.95[EUR][1000 genomes]
rs2042058	0.93[EUR][1000 genomes]
rs2193662	0.86[EUR][1000 genomes]
rs2193663	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2216439	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235601	0.88[EUR][1000 genomes]
rs235602	0.88[EUR][1000 genomes]
rs235607	0.84[EUR][1000 genomes]
rs235610	0.88[EUR][1000 genomes]
rs235616	0.81[EUR][1000 genomes]
rs235621	0.84[EUR][1000 genomes]
rs235622	0.84[EUR][1000 genomes]
rs235625	0.84[EUR][1000 genomes]
rs235626	0.84[EUR][1000 genomes]
rs235627	0.84[EUR][1000 genomes]
rs2408576	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2408577	0.95[EUR][1000 genomes]
rs2430937	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2430939	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2430940	0.95[EUR][1000 genomes]
rs2430941	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2430942	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2430943	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2430946	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2430947	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2471581	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2471583	0.93[EUR][1000 genomes]
rs2471588	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2471594	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2471601	0.95[EUR][1000 genomes]
rs2471602	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2471605	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2471608	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2471617	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2471618	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28768973	0.95[EUR][1000 genomes]
rs2897969	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2909411	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2960450	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34008890	0.84[EUR][1000 genomes]
rs35096979	0.84[EUR][1000 genomes]
rs4073924	0.93[EUR][1000 genomes]
rs4604970	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768125	0.88[EUR][1000 genomes]
rs4768742	0.82[EUR][1000 genomes]
rs4768744	0.83[EUR][1000 genomes]
rs56111534	0.82[EUR][1000 genomes]
rs56152575	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56181923	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56271434	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56399247	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57158113	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57370043	0.84[EUR][1000 genomes]
rs57439008	0.82[EUR][1000 genomes]
rs57658610	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58449317	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58503088	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58561072	0.84[EUR][1000 genomes]
rs58813899	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59521025	0.82[EUR][1000 genomes]
rs59903937	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60191997	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60432604	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60669661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60681792	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61072098	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61355826	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61641663	0.84[EUR][1000 genomes]
rs6582666	0.82[EUR][1000 genomes]
rs7138914	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295471	0.82[EUR][1000 genomes]
rs7302876	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7308386	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310326	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7310408	0.83[EUR][1000 genomes]
rs7315480	0.87[AFR][1000 genomes]
rs73282109	0.84[EUR][1000 genomes]
rs73290381	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73290402	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73291964	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73291976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73291980	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73292000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73292001	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73293911	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73293919	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74085431	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7488464	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765707	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs766794	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7976710	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9669050	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs977069	0.88[EUR][1000 genomes]
rs9783500	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv1811918	chr12:46965257-47033254	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv558783	chr12:46996632-47144856	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46980200-47002000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:46980200-47002200	Weak transcription	Thymus	Thymus
3	chr12:46980200-47002800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:46985200-47002200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:46985400-47002200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:46985600-47007000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:46991400-47000600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:46994800-47002200	Weak transcription	NHEK	skin
9	chr12:46995800-47002200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:46995800-47004600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:46996000-47002800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:46997200-47002000	Weak transcription	Primary T cells from cord blood	blood
13	chr12:46997200-47007000	Weak transcription	Primary B cells from cord blood	blood
14	chr12:46997400-46998800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:46997600-47002200	Weak transcription	Fetal Thymus	thymus
16	chr12:46997800-46998800	ZNF genes & repeats	Lung	lung
17	chr12:46997800-47002200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:46997800-47002200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:46998000-46999000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr12:46998000-47002000	Weak transcription	Dnd41	blood
21	chr12:46998000-47002400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:46998000-47002800	Weak transcription	Pancreas	Pancrea
23	chr12:46998200-47002000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:46998200-47002800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:46998400-47010000	Weak transcription	Gastric	stomach
26	chr12:46998600-47001000	Weak transcription	Spleen	Spleen

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