Variant report

Variant	rs9292069
Chromosome Location	chr5:54039907-54039908
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:54037843..54041857-chr5:54043536..54048349,6	K562	blood:
2	chr5:54014462..54016849-chr5:54037550..54040142,2	K562	blood:
3	chr5:54037843..54039936-chr5:54044579..54046953,2	K562	blood:
4	chr5:54037020..54040567-chr5:54043537..54047094,3	MCF-7	breast:
5	chr5:54037732..54040168-chr5:54049770..54052180,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-45H22.3.1-1	chr5:54039687-54040086	NR_104658

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10051951	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10066710	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10068286	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10077272	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10078278	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10471398	0.89[ASN][1000 genomes]
rs13168186	0.96[ASN][1000 genomes]
rs13170741	0.90[ASN][1000 genomes]
rs13180747	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13187838	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13188578	0.92[ASN][1000 genomes]
rs13188964	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13189693	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35580743	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9292070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv880717	chr5:54025701-54106378	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54034200-54040000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:54034600-54041400	Weak transcription	Lung	lung
3	chr5:54036400-54041600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:54036400-54042000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:54036800-54041800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:54036800-54044800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:54037200-54042800	Weak transcription	Gastric	stomach
8	chr5:54037400-54041000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:54037400-54041200	Enhancers	NHEK	skin
10	chr5:54037600-54040600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:54037600-54040600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:54037600-54040800	Enhancers	HMEC	breast
13	chr5:54037600-54040800	Enhancers	Osteobl	bone
14	chr5:54037600-54041200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:54037600-54041200	Enhancers	NH-A	brain
16	chr5:54037600-54041400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:54037600-54042000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr5:54037800-54040800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr5:54037800-54041600	Enhancers	NHLF	lung
20	chr5:54038000-54040600	Enhancers	Placenta	Placenta
21	chr5:54038200-54040000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:54038200-54040000	Enhancers	Small Intestine	intestine
23	chr5:54038200-54040600	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr5:54038200-54040600	Enhancers	Stomach Mucosa	stomach
25	chr5:54038200-54040800	Enhancers	Adipose Nuclei	Adipose
26	chr5:54038200-54040800	Enhancers	HUVEC	blood vessel
27	chr5:54038200-54041200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:54038200-54041400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr5:54038200-54041600	Enhancers	HSMM	muscle
30	chr5:54038200-54041800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr5:54038200-54041800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr5:54038200-54041800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:54038200-54041800	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr5:54038200-54041800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:54038200-54041800	Enhancers	Fetal Heart	heart
36	chr5:54038200-54042000	Enhancers	Primary T cells fromperipheralblood	blood
37	chr5:54038200-54042600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:54038400-54040200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:54038400-54040600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr5:54038400-54040800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr5:54038400-54041600	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr5:54038400-54041800	Enhancers	Fetal Lung	lung
43	chr5:54038400-54042800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr5:54038600-54040000	Enhancers	K562	blood
45	chr5:54038600-54040600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr5:54038600-54040600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr5:54038600-54041600	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr5:54038600-54041600	Weak transcription	Left Ventricle	heart
49	chr5:54038600-54041800	Enhancers	Duodenum Mucosa	Duodenum
50	chr5:54038800-54040000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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