Variant report

Variant	rs9292192
Chromosome Location	chr5:58448830-58448831
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10035950	1.00[ASN][1000 genomes]
rs10036199	1.00[ASN][1000 genomes]
rs10056754	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10062176	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10079544	1.00[ASN][1000 genomes]
rs17722929	0.90[AMR][1000 genomes]
rs1960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28544243	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72764076	0.81[EUR][1000 genomes]
rs72764077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72764078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72764085	0.82[AMR][1000 genomes]
rs7734053	1.00[ASN][1000 genomes]
rs7734070	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv881702	chr5:58432413-58474854	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58427200-58454000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:58433000-58451600	Weak transcription	Fetal Muscle Leg	muscle
3	chr5:58437400-58454000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:58439000-58484000	Weak transcription	Fetal Kidney	kidney
5	chr5:58444000-58449800	Genic enhancers	A549	lung
6	chr5:58446200-58449000	Enhancers	Fetal Intestine Large	intestine
7	chr5:58446800-58449200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr5:58447000-58449400	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr5:58447000-58450000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr5:58447000-58453400	Enhancers	Primary T cells from cord blood	blood
11	chr5:58447200-58450000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:58447400-58449200	Enhancers	Colon Smooth Muscle	Colon
13	chr5:58447400-58449800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:58447400-58451200	Weak transcription	Hela-S3	cervix
15	chr5:58447600-58449600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr5:58447600-58454800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:58447600-58464000	Weak transcription	Right Ventricle	heart
18	chr5:58447600-58465200	Weak transcription	Right Atrium	heart
19	chr5:58447600-58473200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:58447600-58473400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr5:58447600-58479600	Weak transcription	Left Ventricle	heart
22	chr5:58447800-58449000	Enhancers	Thymus	Thymus
23	chr5:58447800-58453000	Weak transcription	Fetal Heart	heart
24	chr5:58448000-58449000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:58448200-58449000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:58448400-58449000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr5:58448400-58449200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr5:58448400-58449200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr5:58448400-58449200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:58448400-58449200	Enhancers	GM12878-XiMat	blood
31	chr5:58448400-58449400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr5:58448400-58449400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr5:58448400-58449800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr5:58448400-58450000	Enhancers	Fetal Thymus	thymus
35	chr5:58448600-58449000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:58448600-58449000	Enhancers	Brain Anterior Caudate	brain
37	chr5:58448600-58449200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:58448600-58449200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:58448600-58449200	Enhancers	HSMM	muscle
40	chr5:58448600-58449600	Enhancers	Psoas Muscle	Psoas
41	chr5:58448600-58449800	Enhancers	Primary T cells fromperipheralblood	blood
42	chr5:58448600-58449800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr5:58448600-58449800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:58448600-58453400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr5:58448800-58449000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr5:58448800-58449200	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr5:58448800-58449400	Enhancers	Brain Substantia Nigra	brain
48	chr5:58448800-58449800	Enhancers	Small Intestine	intestine

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