Variant report

Variant	rs66500248
Chromosome Location	chr4:119628418-119628419
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119626579..119629053-chr4:119632251..119635031,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11724866	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11730728	0.86[EUR][1000 genomes]
rs11735989	0.87[EUR][1000 genomes]
rs11945703	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12640223	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12646268	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12646298	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12648682	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12648778	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13105145	0.83[EUR][1000 genomes]
rs13105732	0.82[EUR][1000 genomes]
rs13111664	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13115157	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13124091	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13146440	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13146816	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13150663	0.87[EUR][1000 genomes]
rs2029399	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2046779	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2288307	0.87[EUR][1000 genomes]
rs3087958	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34091082	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34270389	0.85[EUR][1000 genomes]
rs34508500	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34628947	0.85[EUR][1000 genomes]
rs35023705	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35071348	0.85[EUR][1000 genomes]
rs35392662	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35404779	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35522890	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35613641	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35952841	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36023173	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3733517	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66942289	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67151421	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67989872	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6813357	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814447	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6817790	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6818241	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6821350	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6827740	0.87[EUR][1000 genomes]
rs6828070	0.92[ASN][1000 genomes]
rs6829010	0.85[EUR][1000 genomes]
rs6831197	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6836005	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6837652	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6847706	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6849714	0.82[EUR][1000 genomes]
rs6852706	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6853722	0.87[EUR][1000 genomes]
rs6855919	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6857285	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71610228	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72679004	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs72679023	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7653962	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7662650	0.84[EUR][1000 genomes]
rs7681835	0.86[EUR][1000 genomes]
rs7692721	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7695602	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7696543	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv427693	chr4:119493919-119674742	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs66500248	RP11-384K6.6	cis	Artery Tibial	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119607000-119644800	Weak transcription	Small Intestine	intestine
2	chr4:119607200-119659200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:119607800-119693800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:119608000-119645000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:119608600-119635200	Strong transcription	Fetal Thymus	thymus
6	chr4:119608600-119635800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:119608600-119674000	Weak transcription	Stomach Mucosa	stomach
8	chr4:119608800-119635000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:119609000-119633200	Strong transcription	Placenta	Placenta
10	chr4:119609000-119633400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:119609000-119633400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:119609000-119633800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:119609000-119634400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:119609000-119634800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr4:119609000-119635000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:119609000-119635000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr4:119609000-119636000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:119609000-119636200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr4:119609200-119633400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:119609200-119634400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr4:119609200-119634800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr4:119609200-119635600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:119609200-119635600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr4:119609200-119635800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:119609200-119636200	Strong transcription	Adipose Nuclei	Adipose
26	chr4:119609200-119648600	Weak transcription	Fetal Heart	heart
27	chr4:119609400-119633400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr4:119609400-119635600	Strong transcription	Dnd41	blood
29	chr4:119610400-119628600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:119613000-119634400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:119615400-119633200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr4:119615600-119633200	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr4:119620000-119660200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr4:119621000-119629000	Strong transcription	Fetal Lung	lung
35	chr4:119621600-119632600	Strong transcription	Fetal Muscle Leg	muscle
36	chr4:119621800-119634800	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr4:119622000-119635800	Strong transcription	Duodenum Mucosa	Duodenum
38	chr4:119622400-119629800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:119622400-119630200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr4:119623200-119628600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
41	chr4:119623600-119635600	Strong transcription	Primary B cells from cord blood	blood
42	chr4:119623800-119633200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr4:119624600-119628600	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr4:119624600-119629800	Strong transcription	Fetal Brain Female	brain
45	chr4:119624800-119636000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:119625000-119632000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:119625200-119629000	Strong transcription	Brain Anterior Caudate	brain
48	chr4:119625200-119631600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:119625200-119632400	Strong transcription	Primary hematopoietic stem cells	blood
50	chr4:119625400-119628600	Strong transcription	HSMM	muscle

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