Variant report

Variant	rs73893614
Chromosome Location	chr20:1158028-1158029
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:1149468..1153458-chr20:1155297..1158129,3	K562	blood:
2	chr20:1154655..1157619-chr20:1157887..1161625,5	K562	blood:
3	chr20:1153813..1159160-chr20:1161637..1167432,10	K562	blood:
4	chr20:809841..812174-chr20:1156542..1159276,2	K562	blood:

Variant related genes	Relation type
ENSG00000125895	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55639424	1.00[AMR][1000 genomes]
rs55865140	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56019233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56197289	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56291245	1.00[AMR][1000 genomes]
rs56351112	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56366502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56398212	1.00[AMR][1000 genomes]
rs56678966	1.00[AMR][1000 genomes]
rs57017494	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57097943	1.00[AMR][1000 genomes]
rs57522549	1.00[AMR][1000 genomes]
rs59254825	1.00[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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61435577	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890801	1.00[AMR][1000 genomes]
rs73890802	0.81[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	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73893604	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73893605	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73893607	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73893608	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73893610	1.00[AMR][1000 genomes]
rs73893613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73893616	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73893618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73893635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73894560	1.00[AMR][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	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
9	esv3400800	chr20:1157970-1158302	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1113800-1159000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:1135600-1159800	Weak transcription	Fetal Heart	heart
3	chr20:1137400-1159200	Strong transcription	Primary T cells from cord blood	blood
4	chr20:1138800-1158800	Strong transcription	Fetal Stomach	stomach
5	chr20:1139000-1158400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr20:1139800-1158200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr20:1140200-1158400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr20:1140200-1159000	Strong transcription	Brain Inferior Temporal Lobe	brain
9	chr20:1140400-1158600	Strong transcription	Stomach Smooth Muscle	stomach
10	chr20:1140400-1159200	Strong transcription	Adipose Nuclei	Adipose
11	chr20:1140800-1159000	Strong transcription	Fetal Brain Female	brain
12	chr20:1143000-1161600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr20:1143800-1159200	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr20:1147000-1161400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr20:1147200-1158200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr20:1148600-1158400	Strong transcription	Spleen	Spleen
17	chr20:1148800-1158400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr20:1148800-1158400	Strong transcription	Lung	lung
19	chr20:1149600-1158400	Strong transcription	Fetal Intestine Small	intestine
20	chr20:1150000-1161800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr20:1150200-1164200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr20:1150600-1158600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr20:1150600-1163000	Weak transcription	Small Intestine	intestine
24	chr20:1150800-1158600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr20:1150800-1159800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr20:1151000-1163000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr20:1151200-1158600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr20:1151200-1159000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr20:1151200-1162400	Weak transcription	HMEC	breast
30	chr20:1151600-1158200	Weak transcription	Fetal Kidney	kidney
31	chr20:1151800-1158400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr20:1151800-1158600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr20:1151800-1159000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr20:1151800-1160000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr20:1151800-1162000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr20:1152000-1160600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr20:1152000-1161600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr20:1152000-1162800	Weak transcription	Fetal Thymus	thymus
39	chr20:1152200-1162800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr20:1152400-1163400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr20:1152600-1161800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr20:1152600-1162200	Weak transcription	Colonic Mucosa	Colon
43	chr20:1152800-1165000	Weak transcription	Brain Substantia Nigra	brain
44	chr20:1153600-1159200	Strong transcription	Brain Cingulate Gyrus	brain
45	chr20:1153600-1160200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr20:1153600-1160600	Weak transcription	Left Ventricle	heart
47	chr20:1153800-1159600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr20:1153800-1163200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr20:1153800-1165400	Weak transcription	A549	lung
50	chr20:1154000-1162200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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