Variant report

Variant	rs6042121
Chromosome Location	chr20:13435764-13435765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:13404319..13406427-chr20:13433826..13436433,2	K562	blood:

Extended variants
information (count: 140 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs12329620	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12479480	1.00[ASN][1000 genomes]
rs12479483	1.00[ASN][1000 genomes]
rs12479520	1.00[ASN][1000 genomes]
rs12479849	1.00[ASN][1000 genomes]
rs12480005	1.00[ASN][1000 genomes]
rs12480101	1.00[ASN][1000 genomes]
rs12480217	1.00[ASN][1000 genomes]
rs12480263	1.00[ASN][1000 genomes]
rs12480266	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480276	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480285	1.00[ASN][1000 genomes]
rs12480457	1.00[ASN][1000 genomes]
rs12480493	1.00[ASN][1000 genomes]
rs12480587	1.00[ASN][1000 genomes]
rs12480970	1.00[ASN][1000 genomes]
rs12480977	1.00[ASN][1000 genomes]
rs12481227	1.00[ASN][1000 genomes]
rs12481291	1.00[ASN][1000 genomes]
rs12481494	1.00[ASN][1000 genomes]
rs1321297	1.00[ASN][1000 genomes]
rs1535410	1.00[ASN][1000 genomes]
rs1812562	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2008702	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038437	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145139	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145140	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2327755	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28867078	0.82[EUR][1000 genomes]
rs34573439	1.00[ASN][1000 genomes]
rs34988299	1.00[ASN][1000 genomes]
rs4471952	1.00[ASN][1000 genomes]
rs4502495	1.00[ASN][1000 genomes]
rs57675086	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57873080	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58023165	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58129464	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59051161	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59299264	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59388287	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033689	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033690	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033693	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033694	0.97[EUR][1000 genomes]
rs6033695	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033699	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033702	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033703	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033704	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033706	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033708	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033714	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033716	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6033718	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042069	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042075	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042076	0.82[EUR][1000 genomes]
rs6042077	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042079	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042080	0.82[EUR][1000 genomes]
rs6042081	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042082	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042083	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042084	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042086	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042087	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6042089	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042093	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042095	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6042101	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042107	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042108	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042111	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042116	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042120	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6042123	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6042130	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042136	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6042142	0.83[AMR][1000 genomes]
rs6042143	0.89[AMR][1000 genomes]
rs6042152	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6042154	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6105082	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105083	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105088	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105089	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105091	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6105092	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105093	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105094	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105095	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6105097	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105105	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6105108	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6105109	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109849	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109859	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109863	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109866	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109867	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6109868	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109869	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109870	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109871	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109872	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109873	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109877	0.97[EUR][1000 genomes]
rs6109879	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6109883	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109885	0.83[AMR][1000 genomes]
rs6109886	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109889	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109895	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109896	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109900	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109901	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109902	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6109904	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61151551	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61518689	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61612076	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7274078	0.83[AMR][1000 genomes]
rs73264980	1.00[ASN][1000 genomes]
rs7348566	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73901179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8119260	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs927122	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9653627	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][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	esv3425983	chr20:13046768-13461834	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv21228	chr20:13283535-13447810	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1062049	chr20:13347580-13477455	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv544186	chr20:13347580-13477455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1061303	chr20:13395546-13810990	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv585435	chr20:13410638-13582476	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv520595	chr20:13421045-13447896	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv916202	chr20:13421724-14043615	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1059817	chr20:13422602-13807968	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13379200-13463000	Weak transcription	HSMM	muscle
2	chr20:13395600-13477800	Weak transcription	Gastric	stomach
3	chr20:13416000-13438200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr20:13416200-13436600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr20:13420800-13444400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr20:13421800-13436600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr20:13421800-13450000	Weak transcription	Fetal Lung	lung
8	chr20:13422000-13460400	Weak transcription	Primary B cells from cord blood	blood
9	chr20:13422000-13461200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr20:13428400-13448800	Weak transcription	Thymus	Thymus
11	chr20:13429800-13437000	Strong transcription	Dnd41	blood
12	chr20:13430000-13467800	Weak transcription	Ovary	ovary
13	chr20:13430200-13467800	Weak transcription	Pancreas	Pancrea
14	chr20:13430400-13442200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr20:13430600-13436000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr20:13431400-13436000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr20:13431600-13445000	Weak transcription	Adipose Nuclei	Adipose
18	chr20:13432200-13438400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr20:13432400-13448800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr20:13432600-13437400	Enhancers	Liver	Liver
21	chr20:13433800-13452200	Weak transcription	Fetal Intestine Small	intestine
22	chr20:13434000-13444800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr20:13434000-13450000	Weak transcription	Fetal Intestine Large	intestine
24	chr20:13434400-13436600	Weak transcription	HepG2	liver
25	chr20:13434600-13436800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr20:13434800-13436200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr20:13434800-13436600	Enhancers	NHEK	skin
28	chr20:13434800-13449600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr20:13435000-13436600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr20:13435000-13436600	Enhancers	HMEC	breast
31	chr20:13435200-13436800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr20:13435200-13436800	Weak transcription	Fetal Muscle Leg	muscle
33	chr20:13435200-13437000	Weak transcription	Aorta	Aorta
34	chr20:13435400-13436200	Weak transcription	Primary T cells from cord blood	blood
35	chr20:13435400-13437000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr20:13435400-13460400	Weak transcription	Fetal Thymus	thymus
37	chr20:13435400-13462000	Weak transcription	Left Ventricle	heart
38	chr20:13435600-13454200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr20:13435600-13460600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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