Variant report

Variant	rs543607395
Chromosome Location	chr20:1283755-1283756
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:1282248..1284954-chr20:1288783..1291101,2	MCF-7	breast:
2	chr20:1279418..1283217-chr20:1283449..1287758,5	K562	blood:
3	chr20:1205295..1208138-chr20:1282456..1285112,2	K562	blood:
4	chr20:1283698..1286846-chr20:1286878..1289632,3	K562	blood:

Variant related genes	Relation type
ENSG00000244588	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
4	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
5	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
6	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
7	esv3437211	chr20:1280452-1285150	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
8	esv3441111	chr20:1281052-1284350	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
9	esv3415895	chr20:1281152-1284350	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
10	esv3361547	chr20:1281252-1284350	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
11	esv3378514	chr20:1281252-1284350	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
12	nsv912591	chr20:1283523-1296811	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
13	nsv912592	chr20:1283523-1297516	Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
14	nsv912593	chr20:1283523-1298397	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv912594	chr20:1283523-1299968	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv912595	chr20:1283523-1313762	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1253800-1285400	Weak transcription	Aorta	Aorta
2	chr20:1266400-1284800	Weak transcription	Brain Germinal Matrix	brain
3	chr20:1272200-1285400	Weak transcription	Adipose Nuclei	Adipose
4	chr20:1272200-1285400	Weak transcription	Left Ventricle	heart
5	chr20:1272200-1286000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr20:1272400-1285800	Weak transcription	Fetal Muscle Leg	muscle
7	chr20:1272600-1294000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr20:1273000-1294000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr20:1274800-1288200	Weak transcription	Fetal Intestine Small	intestine
10	chr20:1275000-1289400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr20:1275400-1284000	Weak transcription	Pancreas	Pancrea
12	chr20:1275800-1285400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr20:1275800-1293800	Weak transcription	Brain Substantia Nigra	brain
14	chr20:1276600-1289800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr20:1278200-1294000	Weak transcription	Colon Smooth Muscle	Colon
16	chr20:1280600-1294000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr20:1281400-1289800	Weak transcription	Colonic Mucosa	Colon
18	chr20:1281600-1285600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr20:1281600-1285600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr20:1281600-1285800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr20:1281600-1290000	Weak transcription	Brain Hippocampus Middle	brain
22	chr20:1281800-1285200	Weak transcription	Lung	lung
23	chr20:1281800-1294000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr20:1282000-1283800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr20:1282000-1284000	Weak transcription	Brain Anterior Caudate	brain
26	chr20:1282000-1284600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr20:1282000-1284600	Weak transcription	Fetal Stomach	stomach
28	chr20:1282000-1285800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr20:1282000-1285800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr20:1282000-1289000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr20:1282000-1293800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr20:1282000-1293800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr20:1282000-1294000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr20:1282000-1294400	Weak transcription	Stomach Mucosa	stomach
35	chr20:1282000-1298200	Weak transcription	A549	lung
36	chr20:1282200-1284200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr20:1282200-1284400	Weak transcription	K562	blood
38	chr20:1282200-1285000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr20:1282200-1285000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr20:1282200-1285400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr20:1282200-1285400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr20:1282200-1285400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr20:1282200-1285400	Weak transcription	Esophagus	oesophagus
44	chr20:1282200-1285400	Weak transcription	Spleen	Spleen
45	chr20:1282200-1285400	Weak transcription	NHLF	lung
46	chr20:1282200-1285600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr20:1282200-1285600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr20:1282200-1285800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr20:1282200-1285800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr20:1282200-1288800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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