Variant report

Variant	rs852983
Chromosome Location	chr5:142712064-142712065
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:142712040-142713216	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:142712043-142713138	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
RPL7P21	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10041520	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs258747	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs258763	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs33383	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs33388	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4634384	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6191	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6877893	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7716360	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs852976	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs852980	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs853180	0.85[ASN][1000 genomes]
rs853183	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][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	esv1825941	chr5:142568715-142728031	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1023976	chr5:142692062-142813664	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1033408	chr5:142701353-142738882	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv980741	chr5:142710329-142714298	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs852983	NR3C1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142658400-142714800	Weak transcription	Esophagus	oesophagus
2	chr5:142693200-142714400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr5:142693400-142721000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:142693800-142747400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:142697200-142714600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:142697200-142720400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:142699000-142720600	Weak transcription	Hela-S3	cervix
8	chr5:142699200-142721400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:142699600-142714400	Weak transcription	Osteobl	bone
10	chr5:142699600-142715800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:142699600-142718600	Weak transcription	Gastric	stomach
12	chr5:142699600-142720200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:142701200-142714400	Weak transcription	Fetal Heart	heart
14	chr5:142702000-142725800	Weak transcription	Aorta	Aorta
15	chr5:142703000-142727200	Weak transcription	HSMM	muscle
16	chr5:142703800-142718600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr5:142704200-142728800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:142704400-142717400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:142705200-142725600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr5:142705800-142722400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr5:142707000-142715800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:142707400-142734800	Weak transcription	Placenta	Placenta
23	chr5:142707800-142720800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:142707800-142727400	Weak transcription	Fetal Muscle Leg	muscle
25	chr5:142708000-142714200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr5:142708000-142714400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:142708000-142716200	Weak transcription	Left Ventricle	heart
28	chr5:142708000-142718600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr5:142708000-142718600	Weak transcription	Right Ventricle	heart
30	chr5:142708000-142724400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:142708000-142727200	Weak transcription	Fetal Thymus	thymus
32	chr5:142708000-142727400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr5:142708000-142728800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr5:142708000-142735400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:142708000-142735400	Weak transcription	Fetal Stomach	stomach
36	chr5:142708600-142714600	Weak transcription	Colon Smooth Muscle	Colon
37	chr5:142708600-142716000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr5:142708600-142724400	Weak transcription	Fetal Intestine Small	intestine
39	chr5:142708800-142718400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr5:142708800-142726400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr5:142709000-142714400	Weak transcription	Ovary	ovary
42	chr5:142709000-142714600	Weak transcription	Psoas Muscle	Psoas
43	chr5:142709000-142722200	Weak transcription	Thymus	Thymus
44	chr5:142709000-142725600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr5:142709000-142725800	Weak transcription	Primary T cells from cord blood	blood
46	chr5:142709200-142714200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:142709200-142717600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr5:142709200-142725600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr5:142710200-142717800	Weak transcription	Brain Substantia Nigra	brain
50	chr5:142710200-142718400	Weak transcription	Adipose Nuclei	Adipose

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