Variant report

Variant	rs16992004
Chromosome Location	chr20:10838883-10838884
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11908350	1.00[AMR][1000 genomes]
rs2327319	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34622744	1.00[AMR][1000 genomes]
rs57881506	1.00[AMR][1000 genomes]
rs58202762	1.00[AMR][1000 genomes]
rs59430901	1.00[AMR][1000 genomes]
rs59648044	1.00[AMR][1000 genomes]
rs59902863	1.00[AMR][1000 genomes]
rs59959156	1.00[AMR][1000 genomes]
rs60847066	1.00[AMR][1000 genomes]
rs61510383	1.00[AMR][1000 genomes]
rs73896413	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912662	chr20:10823506-10864326	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16992004	PPID	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:10830000-10839800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:10830000-10845000	Weak transcription	Spleen	Spleen
3	chr20:10830200-10843600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr20:10830200-10843800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr20:10835400-10843600	Weak transcription	Left Ventricle	heart
6	chr20:10835800-10843600	Weak transcription	Aorta	Aorta
7	chr20:10836000-10841400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr20:10836000-10841600	Weak transcription	NHEK	skin
9	chr20:10836000-10843800	Weak transcription	HMEC	breast
10	chr20:10836600-10839000	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr20:10836600-10839000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr20:10836600-10839200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr20:10837400-10839000	Enhancers	Fetal Intestine Large	intestine
14	chr20:10837400-10839400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr20:10838000-10839400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr20:10838200-10844800	Weak transcription	Colonic Mucosa	Colon
17	chr20:10838400-10839000	Enhancers	Hela-S3	cervix
18	chr20:10838400-10839000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr20:10838400-10839200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr20:10838400-10839200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr20:10838400-10839800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr20:10838400-10839800	Enhancers	A549	lung
23	chr20:10838400-10840000	Weak transcription	Gastric	stomach
24	chr20:10838400-10841000	Weak transcription	Primary B cells from cord blood	blood
25	chr20:10838400-10841600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr20:10838400-10842200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr20:10838400-10842200	Weak transcription	Stomach Mucosa	stomach
28	chr20:10838400-10842600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr20:10838400-10843600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr20:10838400-10843600	Weak transcription	Esophagus	oesophagus
31	chr20:10838400-10843600	Weak transcription	Pancreas	Pancrea
32	chr20:10838400-10843600	Weak transcription	Right Atrium	heart
33	chr20:10838400-10843800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr20:10838400-10843800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr20:10838400-10843800	Weak transcription	Adipose Nuclei	Adipose
36	chr20:10838400-10843800	Weak transcription	NHLF	lung
37	chr20:10838400-10845000	Weak transcription	Lung	lung
38	chr20:10838600-10840200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr20:10838600-10841600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr20:10838600-10841800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr20:10838600-10842000	Weak transcription	HepG2	liver
42	chr20:10838600-10842200	Weak transcription	Osteobl	bone
43	chr20:10838600-10843600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr20:10838600-10844000	Weak transcription	Fetal Muscle Leg	muscle
45	chr20:10838600-10844600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr20:10838800-10839600	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr20:10838800-10842000	Weak transcription	HUVEC	blood vessel
48	chr20:10838800-10842200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr20:10838800-10842200	Weak transcription	Colon Smooth Muscle	Colon
50	chr20:10838800-10842200	Weak transcription	Fetal Intestine Small	intestine

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