Variant report

Variant	rs73890801
Chromosome Location	chr20:1143447-1143448
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	chr20:1138943..1141709-chr20:1142458..1145237,3	K562	blood:
2	chr20:1099226..1101015-chr20:1141535..1143664,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000215388	Chromatin interaction
ENSG00000125818	Chromatin interaction

Extended variants
information (count: 46 )
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[AMR][1000 genomes]
rs56019233	1.00[AMR][1000 genomes]
rs56197289	1.00[AMR][1000 genomes]
rs56291245	1.00[AMR][1000 genomes]
rs56351112	1.00[AMR][1000 genomes]
rs56366502	1.00[AMR][1000 genomes]
rs56398212	1.00[AMR][1000 genomes]
rs56678966	1.00[AMR][1000 genomes]
rs57017494	1.00[AMR][1000 genomes]
rs57097943	1.00[AMR][1000 genomes]
rs57522549	1.00[AMR][1000 genomes]
rs59254825	1.00[AMR][1000 genomes]
rs59587945	1.00[AMR][1000 genomes]
rs59636976	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60701356	1.00[AMR][1000 genomes]
rs61204479	1.00[AMR][1000 genomes]
rs61435577	1.00[AMR][1000 genomes]
rs73890802	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	1.00[AMR][1000 genomes]
rs73893604	1.00[AMR][1000 genomes]
rs73893605	1.00[AMR][1000 genomes]
rs73893607	1.00[AMR][1000 genomes]
rs73893608	1.00[AMR][1000 genomes]
rs73893610	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73893613	1.00[AMR][1000 genomes]
rs73893614	1.00[AMR][1000 genomes]
rs73893616	1.00[AMR][1000 genomes]
rs73893618	1.00[AMR][1000 genomes]
rs73893635	1.00[AMR][1000 genomes]
rs73894560	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1065838	chr20:866302-1147601	Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv544139	chr20:866302-1147601	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1055328	chr20:867911-1145765	Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1100400-1146600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:1112400-1154800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr20:1113800-1159000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr20:1115200-1153600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr20:1116600-1144600	Weak transcription	Stomach Mucosa	stomach
6	chr20:1117200-1144600	Weak transcription	Hela-S3	cervix
7	chr20:1121400-1144600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr20:1127200-1143800	Weak transcription	Colon Smooth Muscle	Colon
9	chr20:1128800-1143800	Weak transcription	Small Intestine	intestine
10	chr20:1130000-1157800	Strong transcription	Duodenum Mucosa	Duodenum
11	chr20:1131200-1145800	Strong transcription	HepG2	liver
12	chr20:1132000-1152000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr20:1133800-1153800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr20:1134200-1145600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr20:1135600-1144200	Weak transcription	Fetal Kidney	kidney
16	chr20:1135600-1159800	Weak transcription	Fetal Heart	heart
17	chr20:1136200-1143600	Weak transcription	NHDF-Ad	bronchial
18	chr20:1136200-1144000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr20:1136400-1143600	Weak transcription	Fetal Brain Male	brain
20	chr20:1136600-1146400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr20:1137200-1148600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr20:1137200-1154400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr20:1137400-1157800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr20:1137400-1157800	Strong transcription	Thymus	Thymus
25	chr20:1137400-1159200	Strong transcription	Primary T cells from cord blood	blood
26	chr20:1138800-1154600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr20:1138800-1156800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr20:1138800-1158800	Strong transcription	Fetal Stomach	stomach
29	chr20:1139000-1143800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr20:1139000-1151200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr20:1139000-1153200	Strong transcription	Dnd41	blood
32	chr20:1139000-1157800	Strong transcription	Liver	Liver
33	chr20:1139000-1157800	Strong transcription	Fetal Muscle Trunk	muscle
34	chr20:1139000-1157800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr20:1139000-1158400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr20:1139200-1152000	Strong transcription	Fetal Thymus	thymus
37	chr20:1139200-1155200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr20:1139600-1157000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr20:1139800-1153800	Strong transcription	A549	lung
40	chr20:1139800-1158200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr20:1140000-1146600	Strong transcription	Lung	lung
42	chr20:1140000-1147400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr20:1140000-1152400	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr20:1140000-1152600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr20:1140000-1152800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr20:1140000-1157800	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr20:1140200-1150800	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr20:1140200-1151200	Strong transcription	HMEC	breast
49	chr20:1140200-1152400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr20:1140200-1152400	Strong transcription	Osteobl	bone

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