Variant report

Variant	rs1053970
Chromosome Location	chr3:141645272-141645273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1050190	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6801746	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7639904	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9847709	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9880808	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1053970	ATP1B3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141597000-141646400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:141616200-141646600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr3:141616200-141648600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:141620800-141646800	Weak transcription	Gastric	stomach
5	chr3:141621000-141646600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:141621000-141670800	Weak transcription	Small Intestine	intestine
7	chr3:141622000-141647600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr3:141622400-141647000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:141623600-141652400	Strong transcription	Fetal Thymus	thymus
10	chr3:141624600-141649200	Weak transcription	Brain Substantia Nigra	brain
11	chr3:141625600-141647200	Weak transcription	Liver	Liver
12	chr3:141625600-141668400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr3:141626600-141659000	Weak transcription	Pancreas	Pancrea
14	chr3:141627400-141646600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr3:141627600-141646400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr3:141627600-141649200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr3:141627800-141652600	Weak transcription	Brain Anterior Caudate	brain
18	chr3:141628200-141673600	Weak transcription	Colon Smooth Muscle	Colon
19	chr3:141628600-141646400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr3:141628600-141658800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:141628600-141669000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr3:141628800-141646000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr3:141628800-141669800	Weak transcription	Fetal Lung	lung
24	chr3:141628800-141674000	Weak transcription	Brain Hippocampus Middle	brain
25	chr3:141629000-141739200	Weak transcription	Psoas Muscle	Psoas
26	chr3:141630000-141647000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr3:141630600-141647400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:141630600-141647400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:141631200-141647600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr3:141632000-141647400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:141632000-141648800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:141632200-141647800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:141632200-141648000	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr3:141632400-141654000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr3:141633000-141659000	Weak transcription	NHLF	lung
36	chr3:141633600-141648000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr3:141633800-141646000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr3:141634200-141648600	Weak transcription	Aorta	Aorta
39	chr3:141634200-141682000	Weak transcription	Brain Angular Gyrus	brain
40	chr3:141634400-141648600	Weak transcription	Fetal Kidney	kidney
41	chr3:141634400-141656600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr3:141635400-141646400	Weak transcription	Primary B cells from cord blood	blood
43	chr3:141635400-141648200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:141635400-141648600	Strong transcription	Fetal Intestine Large	intestine
45	chr3:141635800-141652400	Weak transcription	HSMM	muscle
46	chr3:141635800-141652600	Strong transcription	Thymus	Thymus
47	chr3:141636200-141647800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:141636200-141648000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:141637400-141658800	Weak transcription	Brain Germinal Matrix	brain
50	chr3:141638200-141648200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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