Variant report

Variant	rs4563308
Chromosome Location	chr20:1260568-1260569
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	chr20:1255205..1257477-chr20:1260492..1263462,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10485821	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1323131	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17717152	0.91[CEU][hapmap]
rs17717619	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17779339	0.82[CEU][hapmap]
rs17779586	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17779831	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56031085	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56046688	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56211547	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7262435	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7264468	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7265644	0.91[CEU][hapmap]
rs7271372	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8122259	0.91[CEU][hapmap]
rs8124244	0.91[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1067360	chr20:1245753-1283508	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv1067393	chr20:1254805-1302796	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1247800-1261000	Weak transcription	Right Ventricle	heart
2	chr20:1247800-1262000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr20:1248000-1260600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr20:1248000-1260800	Weak transcription	Osteobl	bone
5	chr20:1248000-1266800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr20:1248000-1271800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:1248000-1278600	Weak transcription	Spleen	Spleen
8	chr20:1248200-1260600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr20:1248200-1265000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr20:1248200-1277400	Weak transcription	Fetal Stomach	stomach
11	chr20:1248200-1281200	Weak transcription	NHEK	skin
12	chr20:1248400-1261400	Weak transcription	Colon Smooth Muscle	Colon
13	chr20:1248600-1266800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr20:1248800-1263600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr20:1249000-1281400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr20:1249800-1262200	Weak transcription	Left Ventricle	heart
17	chr20:1251800-1267000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr20:1252000-1264800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr20:1252000-1267200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr20:1253000-1274800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr20:1253800-1261400	Weak transcription	Gastric	stomach
22	chr20:1253800-1263600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr20:1253800-1285400	Weak transcription	Aorta	Aorta
24	chr20:1254200-1266800	Weak transcription	Brain Hippocampus Middle	brain
25	chr20:1255400-1271600	Weak transcription	HSMMtube	muscle
26	chr20:1256000-1277800	Weak transcription	Fetal Brain Female	brain
27	chr20:1256200-1260800	Weak transcription	Brain Anterior Caudate	brain
28	chr20:1256400-1262000	Weak transcription	Brain Germinal Matrix	brain
29	chr20:1256400-1277400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr20:1256800-1267000	Weak transcription	Fetal Muscle Leg	muscle
31	chr20:1256800-1281400	Weak transcription	Esophagus	oesophagus
32	chr20:1257600-1266800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr20:1258600-1260600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr20:1258600-1260600	Weak transcription	NHLF	lung
35	chr20:1258600-1260800	Weak transcription	Fetal Brain Male	brain
36	chr20:1258600-1261400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr20:1258600-1267000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr20:1258600-1269000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr20:1258800-1260600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr20:1258800-1262200	Weak transcription	Pancreas	Pancrea
41	chr20:1258800-1262400	Weak transcription	Fetal Lung	lung
42	chr20:1259000-1260800	Weak transcription	K562	blood
43	chr20:1259000-1262200	Weak transcription	Adipose Nuclei	Adipose
44	chr20:1259800-1261200	Strong transcription	Stomach Smooth Muscle	stomach
45	chr20:1260000-1260800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr20:1260000-1272200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr20:1260200-1261400	Strong transcription	Primary T cells from cord blood	blood
48	chr20:1260400-1260600	Enhancers	Fetal Muscle Trunk	muscle
49	chr20:1260400-1261000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr20:1260400-1261600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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