Variant report

Variant	rs10988783
Chromosome Location	chr9:102131353-102131354
allele	C/T
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	MAX	chr9:102131344-102131646	NB4	blood:	n/a	chr9:102131347-102131360 chr9:102131446-102131455 chr9:102131521-102131531 chr9:102131348-102131359

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:102129944..102132650-chr9:102133086..102135348,2	MCF-7	breast:

Variant related genes	Relation type
NAMA	TF binding region
ENSG00000271086	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10988776	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2416771	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[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	nsv893620	chr9:102029791-102194921	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv831667	chr9:102068047-102285691	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1046898	chr9:102111890-102163313	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10988783	KARS	trans	lymphoblastoid	RTeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102114800-102131600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:102129400-102131600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:102129800-102132000	Enhancers	Fetal Brain Male	brain
4	chr9:102130200-102131400	Flanking Active TSS	NHDF-Ad	bronchial
5	chr9:102130400-102131400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:102130400-102131400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr9:102130400-102131400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr9:102130400-102131400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr9:102130400-102131400	Active TSS	Brain Germinal Matrix	brain
10	chr9:102130400-102131400	Flanking Active TSS	NH-A	brain
11	chr9:102130400-102131400	Flanking Active TSS	Osteobl	bone
12	chr9:102130400-102131600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:102130400-102131600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:102130400-102131600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr9:102130400-102131600	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr9:102130400-102132000	Enhancers	Pancreas	Pancrea
17	chr9:102130400-102132200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr9:102130600-102131400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:102130600-102131400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:102130600-102131400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr9:102130600-102131400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:102130600-102131400	Active TSS	Brain Anterior Caudate	brain
23	chr9:102130600-102131400	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr9:102130600-102131400	Active TSS	Fetal Kidney	kidney
25	chr9:102130600-102131400	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr9:102130600-102131400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
27	chr9:102130600-102131400	Flanking Active TSS	Placenta	Placenta
28	chr9:102130600-102131400	Active TSS	HSMMtube	muscle
29	chr9:102130600-102131600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr9:102130600-102131600	Active TSS	Right Atrium	heart
31	chr9:102130600-102133200	Weak transcription	Lung	lung
32	chr9:102130800-102131400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr9:102130800-102131400	Active TSS	Brain Hippocampus Middle	brain
34	chr9:102130800-102131400	Active TSS	Brain Substantia Nigra	brain
35	chr9:102130800-102131400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
36	chr9:102130800-102131400	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr9:102130800-102131600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr9:102130800-102132200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr9:102130800-102134000	Enhancers	Fetal Lung	lung
40	chr9:102131000-102131400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr9:102131000-102131400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:102131000-102131400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr9:102131000-102131400	Enhancers	Primary B cells from peripheral blood	blood
44	chr9:102131000-102131400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr9:102131000-102131400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr9:102131000-102131400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
47	chr9:102131000-102131400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr9:102131000-102131400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
49	chr9:102131000-102131400	Bivalent Enhancer	Fetal Thymus	thymus
50	chr9:102131000-102131400	Flanking Active TSS	Right Ventricle	heart

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