Variant report

Variant	rs73102113
Chromosome Location	chr20:25626606-25626607
allele	G/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: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs55652038	0.81[EUR][1000 genomes]
rs56184302	0.81[EUR][1000 genomes]
rs6107071	0.81[EUR][1000 genomes]
rs6115248	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6115256	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73102121	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73111222	0.85[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73102113	FAM182A,FAM182B	cis	brain	BrainEAC

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	chr20:25605600-25627000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr20:25605600-25628400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr20:25605600-25628600	Weak transcription	Colon Smooth Muscle	Colon
6	chr20:25605600-25630200	Weak transcription	Fetal Intestine Large	intestine
7	chr20:25605600-25635000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr20:25605600-25654600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr20:25609200-25653400	Weak transcription	Brain Substantia Nigra	brain
10	chr20:25610200-25630400	Weak transcription	Ovary	ovary
11	chr20:25610200-25635600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr20:25610600-25630600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr20:25611400-25653200	Weak transcription	Fetal Intestine Small	intestine
14	chr20:25613400-25635000	Weak transcription	Hela-S3	cervix
15	chr20:25613600-25635400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr20:25614400-25632400	Weak transcription	Osteobl	bone
17	chr20:25614600-25628400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr20:25614600-25635000	Weak transcription	NHEK	skin
19	chr20:25616000-25653600	Weak transcription	Adipose Nuclei	Adipose
20	chr20:25617000-25650400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr20:25617200-25629600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr20:25617400-25640400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr20:25617600-25653400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr20:25617800-25635000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr20:25618200-25628200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr20:25618200-25628400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr20:25618400-25632200	Weak transcription	Primary T cells from cord blood	blood
28	chr20:25618400-25653600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr20:25618400-25653600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr20:25623200-25653600	Weak transcription	Pancreas	Pancrea
31	chr20:25623600-25627200	Strong transcription	Liver	Liver
32	chr20:25624000-25629200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr20:25624000-25635400	Weak transcription	HepG2	liver
34	chr20:25624200-25630000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr20:25624800-25629800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr20:25624800-25631800	Weak transcription	GM12878-XiMat	blood
37	chr20:25625000-25626800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr20:25625000-25655200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr20:25625200-25627000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
40	chr20:25625200-25627600	Weak transcription	Thymus	Thymus
41	chr20:25625200-25641600	Weak transcription	Dnd41	blood
42	chr20:25625400-25628200	Weak transcription	HSMMtube	muscle
43	chr20:25625600-25630400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr20:25625800-25626800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr20:25626000-25627200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr20:25626200-25627000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr20:25626200-25627000	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr20:25626400-25626800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr20:25626400-25627000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
50	chr20:25626400-25627000	Strong transcription	HUES64 Cell Line	embryonic stem cell

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