Variant report

Variant	rs6050738
Chromosome Location	chr20:25618360-25618361
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:25603901..25606478-chr20:25617196..25618915,2	K562	blood:

Variant related genes	Relation type
ENSG00000213742	Chromatin interaction
ENSG00000170191	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs56791487	0.85[AMR][1000 genomes]
rs57150489	1.00[EUR][1000 genomes]
rs57830607	0.85[AMR][1000 genomes]
rs57870458	1.00[EUR][1000 genomes]
rs57923046	0.85[AMR][1000 genomes]
rs57982209	1.00[EUR][1000 genomes]
rs58516525	0.85[AMR][1000 genomes]
rs59631229	1.00[EUR][1000 genomes]
rs6037213	1.00[EUR][1000 genomes]
rs60838372	0.85[AMR][1000 genomes]
rs61146844	1.00[EUR][1000 genomes]
rs6115245	1.00[EUR][1000 genomes]
rs61598299	1.00[EUR][1000 genomes]
rs6515689	1.00[EUR][1000 genomes]
rs7273366	1.00[EUR][1000 genomes]
rs73334116	1.00[EUR][1000 genomes]
rs73341321	1.00[EUR][1000 genomes]
rs73341324	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73341330	1.00[EUR][1000 genomes]
rs73341334	1.00[EUR][1000 genomes]
rs73341383	1.00[EUR][1000 genomes]
rs73343243	1.00[EUR][1000 genomes]
rs73343250	1.00[EUR][1000 genomes]
rs73343258	1.00[EUR][1000 genomes]
rs73343264	1.00[EUR][1000 genomes]
rs73343265	1.00[EUR][1000 genomes]
rs73345241	1.00[EUR][1000 genomes]
rs73345246	1.00[EUR][1000 genomes]
rs73345256	1.00[EUR][1000 genomes]
rs73348906	1.00[EUR][1000 genomes]
rs73348986	1.00[EUR][1000 genomes]
rs8118159	1.00[EUR][1000 genomes]
rs8125097	1.00[EUR][1000 genomes]
rs8125218	1.00[EUR][1000 genomes]
rs9917415	1.00[EUR][1000 genomes]
rs9917460	1.00[EUR][1000 genomes]

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	nsv1060591	chr20:25388781-25628750	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer 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	nsv544223	chr20:25388781-25628750	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2762069	chr20:25506582-25619528	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv912834	chr20:25615272-25756336	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS 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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25605400-25628600	Weak transcription	Left Ventricle	heart
2	chr20:25605400-25630400	Weak transcription	Aorta	Aorta
3	chr20:25605600-25619200	Weak transcription	Liver	Liver
4	chr20:25605600-25627000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr20:25605600-25628400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr20:25605600-25628600	Weak transcription	Colon Smooth Muscle	Colon
7	chr20:25605600-25630200	Weak transcription	Fetal Intestine Large	intestine
8	chr20:25605600-25635000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr20:25605600-25654600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr20:25606200-25626400	Weak transcription	A549	lung
11	chr20:25607800-25623000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr20:25609200-25653400	Weak transcription	Brain Substantia Nigra	brain
13	chr20:25610200-25630400	Weak transcription	Ovary	ovary
14	chr20:25610200-25635600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr20:25610600-25625000	Weak transcription	HSMMtube	muscle
16	chr20:25610600-25626200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr20:25610600-25630600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr20:25611400-25653200	Weak transcription	Fetal Intestine Small	intestine
19	chr20:25613400-25635000	Weak transcription	Hela-S3	cervix
20	chr20:25613600-25624000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr20:25613600-25635400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr20:25614200-25626000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr20:25614400-25632400	Weak transcription	Osteobl	bone
24	chr20:25614600-25625800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr20:25614600-25628400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr20:25614600-25635000	Weak transcription	NHEK	skin
27	chr20:25615000-25619200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr20:25615000-25619600	ZNF genes & repeats	Dnd41	blood
29	chr20:25615400-25618400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
30	chr20:25616000-25618800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
31	chr20:25616000-25653600	Weak transcription	Adipose Nuclei	Adipose
32	chr20:25616200-25624400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr20:25616400-25618400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr20:25616600-25618400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
35	chr20:25616600-25618400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
36	chr20:25616600-25618800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr20:25616800-25618400	ZNF genes & repeats	Primary T cells from cord blood	blood
38	chr20:25616800-25618400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr20:25616800-25626600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr20:25617000-25619400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
41	chr20:25617000-25650400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr20:25617200-25618400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
43	chr20:25617200-25629600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr20:25617400-25640400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr20:25617600-25618400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr20:25617600-25618400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr20:25617600-25653400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr20:25617800-25622800	Weak transcription	Fetal Thymus	thymus
49	chr20:25617800-25625200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr20:25617800-25635000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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