Variant report

Variant	rs142601423
Chromosome Location	chr20:1273570-1273571
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:1272392..1273936-chr20:1275888..1278512,2	K562	blood:
2	chr20:1272718..1276817-chr20:1277279..1280817,5	MCF-7	breast:
3	chr20:1271210..1274105-chr20:1276784..1280464,4	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv912588	chr20:1269588-1300456	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv912589	chr20:1272686-1298397	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1248000-1278600	Weak transcription	Spleen	Spleen
2	chr20:1248200-1277400	Weak transcription	Fetal Stomach	stomach
3	chr20:1248200-1281200	Weak transcription	NHEK	skin
4	chr20:1249000-1281400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr20:1253000-1274800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr20:1253800-1285400	Weak transcription	Aorta	Aorta
7	chr20:1256000-1277800	Weak transcription	Fetal Brain Female	brain
8	chr20:1256400-1277400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr20:1256800-1281400	Weak transcription	Esophagus	oesophagus
10	chr20:1261400-1278800	Weak transcription	NHLF	lung
11	chr20:1263200-1276200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr20:1264800-1274800	Weak transcription	Gastric	stomach
13	chr20:1265400-1277800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr20:1265600-1280400	Weak transcription	K562	blood
15	chr20:1266400-1284800	Weak transcription	Brain Germinal Matrix	brain
16	chr20:1267200-1281400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr20:1267400-1281000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr20:1267600-1281200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr20:1267800-1281000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr20:1268200-1280600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr20:1268200-1280800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr20:1268400-1274600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr20:1268600-1278000	Weak transcription	Primary T cells from cord blood	blood
24	chr20:1269000-1274400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr20:1269200-1274200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr20:1269200-1277600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr20:1269200-1283600	Weak transcription	Right Ventricle	heart
28	chr20:1269400-1283200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr20:1271000-1273600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr20:1271400-1274600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr20:1271600-1275200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr20:1271600-1275800	Enhancers	Brain Angular Gyrus	brain
33	chr20:1271800-1280000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr20:1271800-1280200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr20:1271800-1280400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr20:1272000-1273600	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr20:1272200-1274200	Weak transcription	Pancreas	Pancrea
38	chr20:1272200-1280000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr20:1272200-1280200	Weak transcription	Fetal Thymus	thymus
40	chr20:1272200-1285400	Weak transcription	Adipose Nuclei	Adipose
41	chr20:1272200-1285400	Weak transcription	Left Ventricle	heart
42	chr20:1272200-1286000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr20:1272400-1274000	Weak transcription	Brain Hippocampus Middle	brain
44	chr20:1272400-1275400	Weak transcription	Fetal Lung	lung
45	chr20:1272400-1276000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr20:1272400-1277200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr20:1272400-1281200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr20:1272400-1281200	Weak transcription	Osteobl	bone
49	chr20:1272400-1285800	Weak transcription	Fetal Muscle Leg	muscle
50	chr20:1272600-1279600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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