Variant report

Variant	rs60327946
Chromosome Location	chr20:1279482-1279483
allele	-/GTGTGTGT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:1279418..1283217-chr20:1283449..1287758,5	K562	blood:
2	chr20:1196637..1198683-chr20:1279227..1282045,2	K562	blood:
3	chr20:1274563..1276619-chr20:1279112..1281898,2	K562	blood:
4	chr20:1272718..1276817-chr20:1277279..1280817,5	MCF-7	breast:
5	chr20:1271210..1274105-chr20:1276784..1280464,4	K562	blood:
6	chr20:1279250..1281881-chr20:1447982..1450441,2	K562	blood:

Variant related genes	Relation type
ENSG00000088833	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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	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
7	nsv912590	chr20:1278770-1298397	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv179130	chr20:1279476-1279489	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	esv1485629	chr20:1279483-1279489	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1248200-1281200	Weak transcription	NHEK	skin
2	chr20:1249000-1281400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr20:1253800-1285400	Weak transcription	Aorta	Aorta
4	chr20:1256800-1281400	Weak transcription	Esophagus	oesophagus
5	chr20:1265600-1280400	Weak transcription	K562	blood
6	chr20:1266400-1284800	Weak transcription	Brain Germinal Matrix	brain
7	chr20:1267200-1281400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr20:1267400-1281000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr20:1267600-1281200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr20:1267800-1281000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr20:1268200-1280600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr20:1268200-1280800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr20:1269200-1283600	Weak transcription	Right Ventricle	heart
14	chr20:1269400-1283200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr20:1271800-1280000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr20:1271800-1280200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr20:1271800-1280400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr20:1272200-1280000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr20:1272200-1280200	Weak transcription	Fetal Thymus	thymus
20	chr20:1272200-1285400	Weak transcription	Adipose Nuclei	Adipose
21	chr20:1272200-1285400	Weak transcription	Left Ventricle	heart
22	chr20:1272200-1286000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr20:1272400-1281200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr20:1272400-1281200	Weak transcription	Osteobl	bone
25	chr20:1272400-1285800	Weak transcription	Fetal Muscle Leg	muscle
26	chr20:1272600-1279600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr20:1272600-1294000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr20:1272800-1281200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr20:1272800-1283400	Weak transcription	HSMMtube	muscle
30	chr20:1273000-1281200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr20:1273000-1294000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr20:1273800-1280200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr20:1274400-1280000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr20:1274600-1282200	Strong transcription	Stomach Smooth Muscle	stomach
35	chr20:1274800-1280400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr20:1274800-1280600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr20:1274800-1288200	Weak transcription	Fetal Intestine Small	intestine
38	chr20:1275000-1280200	Weak transcription	Gastric	stomach
39	chr20:1275000-1289400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr20:1275200-1279600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr20:1275400-1280400	Weak transcription	Brain Hippocampus Middle	brain
42	chr20:1275400-1284000	Weak transcription	Pancreas	Pancrea
43	chr20:1275800-1285400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr20:1275800-1293800	Weak transcription	Brain Substantia Nigra	brain
45	chr20:1276000-1280000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr20:1276000-1280800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr20:1276200-1281000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr20:1276600-1289800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr20:1276800-1280400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr20:1277000-1280400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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