Variant report

Variant	rs62187492
Chromosome Location	chr20:1253541-1253542
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs438005	0.84[EUR][1000 genomes]
rs6078233	1.00[ASN][1000 genomes]
rs62186522	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62187482	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62187484	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62187493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7261961	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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

No data

Chromatin state (count:66 , 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	chr20:1248000-1253600	Weak transcription	NHDF-Ad	bronchial
4	chr20:1248000-1255800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr20:1248000-1260600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr20:1248000-1260800	Weak transcription	Osteobl	bone
7	chr20:1248000-1266800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr20:1248000-1271800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr20:1248000-1278600	Weak transcription	Spleen	Spleen
10	chr20:1248200-1255200	Weak transcription	Fetal Brain Female	brain
11	chr20:1248200-1255600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr20:1248200-1260400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr20:1248200-1260600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr20:1248200-1265000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr20:1248200-1277400	Weak transcription	Fetal Stomach	stomach
16	chr20:1248200-1281200	Weak transcription	NHEK	skin
17	chr20:1248400-1255600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr20:1248400-1261400	Weak transcription	Colon Smooth Muscle	Colon
19	chr20:1248600-1253600	Weak transcription	Brain Hippocampus Middle	brain
20	chr20:1248600-1266800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr20:1248800-1258000	Weak transcription	NHLF	lung
22	chr20:1248800-1263600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr20:1249000-1255400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr20:1249000-1281400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr20:1249800-1258000	Weak transcription	Pancreas	Pancrea
26	chr20:1249800-1262200	Weak transcription	Left Ventricle	heart
27	chr20:1250800-1255200	Weak transcription	Brain Angular Gyrus	brain
28	chr20:1251400-1255200	Weak transcription	K562	blood
29	chr20:1251400-1255400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr20:1251800-1253800	Weak transcription	Primary T cells from cord blood	blood
31	chr20:1251800-1254000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr20:1251800-1255600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr20:1251800-1267000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr20:1252000-1264800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr20:1252000-1267200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr20:1252200-1254200	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr20:1252200-1254600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr20:1252400-1253800	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr20:1252400-1254400	Enhancers	Brain Cingulate Gyrus	brain
40	chr20:1252400-1259800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr20:1252600-1255400	Enhancers	HSMMtube	muscle
42	chr20:1252800-1256000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr20:1252800-1256800	Enhancers	Fetal Muscle Leg	muscle
44	chr20:1253000-1253800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr20:1253000-1254000	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr20:1253000-1254200	Weak transcription	Brain Substantia Nigra	brain
47	chr20:1253000-1254400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr20:1253000-1256200	Enhancers	Brain Anterior Caudate	brain
49	chr20:1253000-1256800	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr20:1253000-1274800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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