Variant report

Variant	rs73893608
Chromosome Location	chr20:1154433-1154434
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:1153813..1159160-chr20:1161637..1167432,10	K562	blood:

Variant related genes	Relation type
ENSG00000125895	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs55639424	1.00[AMR][1000 genomes]
rs55865140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56019233	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56197289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56291245	1.00[AMR][1000 genomes]
rs56351112	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56366502	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56398212	1.00[AMR][1000 genomes]
rs56678966	1.00[AMR][1000 genomes]
rs57017494	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57097943	1.00[AMR][1000 genomes]
rs57522549	1.00[AMR][1000 genomes]
rs59254825	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59587945	1.00[AMR][1000 genomes]
rs59636976	1.00[AMR][1000 genomes]
rs60701356	1.00[AMR][1000 genomes]
rs61204479	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61435577	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890801	1.00[AMR][1000 genomes]
rs73890802	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890809	1.00[AMR][1000 genomes]
rs73892929	1.00[AMR][1000 genomes]
rs73893155	1.00[AMR][1000 genomes]
rs73893241	1.00[AMR][1000 genomes]
rs73893603	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73893604	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73893605	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73893607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73893610	1.00[AMR][1000 genomes]
rs73893613	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73893614	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73893616	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73893618	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73893635	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73894560	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531450	chr20:809607-1221836	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1058524	chr20:821434-1254865	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv544138	chr20:821434-1254865	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1057939	chr20:824980-1316778	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1059611	chr20:867911-1158694	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv544140	chr20:867911-1158694	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv912585	chr20:992713-1210647	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1057097	chr20:1030940-1314265	Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1112400-1154800	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr20:1113800-1159000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr20:1130000-1157800	Strong transcription	Duodenum Mucosa	Duodenum
4	chr20:1135600-1159800	Weak transcription	Fetal Heart	heart
5	chr20:1137400-1157800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr20:1137400-1157800	Strong transcription	Thymus	Thymus
7	chr20:1137400-1159200	Strong transcription	Primary T cells from cord blood	blood
8	chr20:1138800-1154600	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr20:1138800-1156800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr20:1138800-1158800	Strong transcription	Fetal Stomach	stomach
11	chr20:1139000-1157800	Strong transcription	Liver	Liver
12	chr20:1139000-1157800	Strong transcription	Fetal Muscle Trunk	muscle
13	chr20:1139000-1157800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr20:1139000-1158400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr20:1139200-1155200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr20:1139600-1157000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr20:1139800-1158200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr20:1140000-1157800	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr20:1140200-1154800	Strong transcription	Fetal Intestine Large	intestine
20	chr20:1140200-1156400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr20:1140200-1156800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr20:1140200-1156800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr20:1140200-1157600	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr20:1140200-1157800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr20:1140200-1157800	Strong transcription	Fetal Muscle Leg	muscle
26	chr20:1140200-1158400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr20:1140200-1159000	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr20:1140400-1156800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr20:1140400-1157200	Strong transcription	Placenta	Placenta
30	chr20:1140400-1158600	Strong transcription	Stomach Smooth Muscle	stomach
31	chr20:1140400-1159200	Strong transcription	Adipose Nuclei	Adipose
32	chr20:1140600-1156400	Strong transcription	Brain Angular Gyrus	brain
33	chr20:1140600-1157000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr20:1140600-1157800	Strong transcription	Brain Anterior Caudate	brain
35	chr20:1140800-1159000	Strong transcription	Fetal Brain Female	brain
36	chr20:1141200-1157200	Strong transcription	Primary B cells from cord blood	blood
37	chr20:1143000-1161600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr20:1143400-1156600	Strong transcription	Aorta	Aorta
39	chr20:1143400-1157200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr20:1143600-1157800	Strong transcription	Brain Hippocampus Middle	brain
41	chr20:1143800-1159200	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr20:1144200-1157200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr20:1144800-1157600	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr20:1144800-1157800	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr20:1147000-1161400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr20:1147200-1158200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr20:1147400-1157200	Strong transcription	Esophagus	oesophagus
48	chr20:1148400-1157600	Strong transcription	Right Ventricle	heart
49	chr20:1148600-1158000	Strong transcription	Brain Germinal Matrix	brain
50	chr20:1148600-1158400	Strong transcription	Spleen	Spleen

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