Variant report

Variant	rs531847498
Chromosome Location	chr20:1255323-1255324
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	chr20:1255205..1257477-chr20:1260492..1263462,2	K562	blood:
2	chr20:1253926..1255771-chr20:1305647..1307617,2	K562	blood:

Variant related genes	Relation type
ENSG00000234684	Chromatin interaction
ENSG00000125775	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	chr20:1248000-1255800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr20:1248000-1260600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr20:1248000-1260800	Weak transcription	Osteobl	bone
6	chr20:1248000-1266800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr20:1248000-1271800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:1248000-1278600	Weak transcription	Spleen	Spleen
9	chr20:1248200-1255600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr20:1248200-1260400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr20:1248200-1260600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr20:1248200-1265000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr20:1248200-1277400	Weak transcription	Fetal Stomach	stomach
14	chr20:1248200-1281200	Weak transcription	NHEK	skin
15	chr20:1248400-1255600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr20:1248400-1261400	Weak transcription	Colon Smooth Muscle	Colon
17	chr20:1248600-1266800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr20:1248800-1258000	Weak transcription	NHLF	lung
19	chr20:1248800-1263600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr20:1249000-1255400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr20:1249000-1281400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr20:1249800-1258000	Weak transcription	Pancreas	Pancrea
23	chr20:1249800-1262200	Weak transcription	Left Ventricle	heart
24	chr20:1251400-1255400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr20:1251800-1255600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr20:1251800-1267000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr20:1252000-1264800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr20:1252000-1267200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr20:1252400-1259800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr20:1252600-1255400	Enhancers	HSMMtube	muscle
31	chr20:1252800-1256000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr20:1252800-1256800	Enhancers	Fetal Muscle Leg	muscle
33	chr20:1253000-1256200	Enhancers	Brain Anterior Caudate	brain
34	chr20:1253000-1256800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr20:1253000-1274800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr20:1253800-1255400	Weak transcription	Lung	lung
37	chr20:1253800-1256000	Strong transcription	Primary T cells from cord blood	blood
38	chr20:1253800-1260400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr20:1253800-1260400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr20:1253800-1261400	Weak transcription	Gastric	stomach
41	chr20:1253800-1263600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr20:1253800-1285400	Weak transcription	Aorta	Aorta
43	chr20:1254000-1255400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr20:1254000-1258200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr20:1254000-1259400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr20:1254000-1260400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr20:1254200-1258000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr20:1254200-1266800	Weak transcription	Brain Hippocampus Middle	brain
49	chr20:1254600-1256400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr20:1254600-1258000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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