Variant report

Variant	rs4813575
Chromosome Location	chr20:25627307-25627308
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	chr20:25600186..25602074-chr20:25626007..25628031,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1119163	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987764	0.83[ASN][1000 genomes]
rs1985402	0.81[EUR][1000 genomes]
rs1985403	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2009090	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2890396	0.91[EUR][1000 genomes]
rs4597609	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4815440	1.00[EUR][1000 genomes]
rs4815447	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57199512	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6037225	0.91[EUR][1000 genomes]
rs6037229	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6037230	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6050859	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6107051	1.00[ASN][1000 genomes]
rs6107062	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6107064	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6107072	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6115190	1.00[ASN][1000 genomes]
rs6115230	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115239	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115240	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115244	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115261	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6115262	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6115270	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6115272	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6115273	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6115275	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61672495	1.00[ASN][1000 genomes]
rs6515674	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7268237	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7268489	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7273102	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7273313	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7274511	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7274637	0.84[EUR][1000 genomes]
rs8118180	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8123585	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9808606	1.00[ASN][1000 genomes]
rs9917437	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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:59 , 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	chr20:25605600-25628400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr20:25605600-25628600	Weak transcription	Colon Smooth Muscle	Colon
5	chr20:25605600-25630200	Weak transcription	Fetal Intestine Large	intestine
6	chr20:25605600-25635000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr20:25605600-25654600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr20:25609200-25653400	Weak transcription	Brain Substantia Nigra	brain
9	chr20:25610200-25630400	Weak transcription	Ovary	ovary
10	chr20:25610200-25635600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr20:25610600-25630600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr20:25611400-25653200	Weak transcription	Fetal Intestine Small	intestine
13	chr20:25613400-25635000	Weak transcription	Hela-S3	cervix
14	chr20:25613600-25635400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr20:25614400-25632400	Weak transcription	Osteobl	bone
16	chr20:25614600-25628400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr20:25614600-25635000	Weak transcription	NHEK	skin
18	chr20:25616000-25653600	Weak transcription	Adipose Nuclei	Adipose
19	chr20:25617000-25650400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr20:25617200-25629600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr20:25617400-25640400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr20:25617600-25653400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr20:25617800-25635000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr20:25618200-25628200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr20:25618200-25628400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr20:25618400-25632200	Weak transcription	Primary T cells from cord blood	blood
27	chr20:25618400-25653600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr20:25618400-25653600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr20:25623200-25653600	Weak transcription	Pancreas	Pancrea
30	chr20:25624000-25629200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr20:25624000-25635400	Weak transcription	HepG2	liver
32	chr20:25624200-25630000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr20:25624800-25629800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr20:25624800-25631800	Weak transcription	GM12878-XiMat	blood
35	chr20:25625000-25655200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr20:25625200-25627600	Weak transcription	Thymus	Thymus
37	chr20:25625200-25641600	Weak transcription	Dnd41	blood
38	chr20:25625400-25628200	Weak transcription	HSMMtube	muscle
39	chr20:25625600-25630400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr20:25626400-25627600	Weak transcription	Fetal Thymus	thymus
41	chr20:25626400-25628800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr20:25626400-25630000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr20:25626400-25653600	Weak transcription	Fetal Muscle Leg	muscle
44	chr20:25626600-25628200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr20:25626800-25627600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr20:25626800-25628000	Weak transcription	Brain Hippocampus Middle	brain
47	chr20:25626800-25632400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr20:25626800-25634800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr20:25626800-25654000	Weak transcription	Gastric	stomach
50	chr20:25627000-25627800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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