Variant report

Variant	rs62517585
Chromosome Location	chr8:42924021-42924022
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:42923612..42925552-chr8:42995226..42998190,2	K562	blood:

Variant related genes	Relation type
ENSG00000165102	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1052654	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11986681	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11987893	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11990515	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11997799	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13251524	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13257298	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16891663	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34100417	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34864660	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35252795	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35688388	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57652067	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58729413	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60292433	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62515942	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62515949	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6996034	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6999489	0.82[AMR][1000 genomes]
rs7014595	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71521601	0.82[AMR][1000 genomes]
rs7462864	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7821062	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7829867	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	nsv429912	chr8:42852444-43701143	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv869499	chr8:42858608-43541986	Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv916847	chr8:42858611-43541984	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
11	nsv1027779	chr8:42863024-43729296	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
12	nsv1025336	chr8:42905623-43333638	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
13	nsv539564	chr8:42905623-43333638	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
14	nsv831302	chr8:42909483-43105520	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62517585	FNTA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42912800-42924200	Weak transcription	Gastric	stomach
2	chr8:42912800-42924600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:42912800-42936000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:42912800-42936600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:42912800-42943800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:42912800-42948000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:42913000-42924400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:42913000-42924400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:42913000-42924400	Weak transcription	Spleen	Spleen
10	chr8:42913000-42941200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:42913600-42940600	Weak transcription	Small Intestine	intestine
12	chr8:42914400-42924800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:42914400-42933000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:42914400-42942000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr8:42914400-42942800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:42914400-42947800	Weak transcription	Stomach Mucosa	stomach
17	chr8:42914800-42934800	Weak transcription	Fetal Heart	heart
18	chr8:42914800-42942800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:42915200-42924600	Weak transcription	Brain Angular Gyrus	brain
20	chr8:42915200-42942000	Strong transcription	Fetal Intestine Large	intestine
21	chr8:42915400-42947200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr8:42915600-42935000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:42916200-42941600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr8:42916200-42942000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:42916400-42941600	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr8:42916400-42942200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:42916800-42924400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr8:42916800-42937000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:42916800-42942000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:42916800-42942800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr8:42917000-42942800	Strong transcription	Fetal Stomach	stomach
32	chr8:42917200-42941600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:42917600-42926000	Strong transcription	HMEC	breast
34	chr8:42917600-42935800	Strong transcription	Liver	Liver
35	chr8:42917600-42941600	Strong transcription	Fetal Muscle Trunk	muscle
36	chr8:42917600-42941600	Strong transcription	Dnd41	blood
37	chr8:42917600-42941800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:42917600-42941800	Strong transcription	Adipose Nuclei	Adipose
39	chr8:42917600-42942000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:42917600-42942000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr8:42917600-42942800	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr8:42917800-42930000	Strong transcription	Primary T cells from cord blood	blood
43	chr8:42917800-42936400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:42917800-42941400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr8:42917800-42941600	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr8:42917800-42941600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr8:42917800-42941800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:42917800-42941800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr8:42917800-42942000	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr8:42917800-42942400	Strong transcription	Placenta	Placenta

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