Variant report

Variant	rs12695746
Chromosome Location	chr3:141647359-141647360
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141645508..141649980-chr3:141650119..141655905,6	K562	blood:
2	chr3:141646387..141648492-chr3:141652894..141655843,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10804681	0.92[CEU][hapmap]
rs11569216	0.86[MEX][hapmap]
rs1529580	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1976633	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2902146	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4234470	0.81[AMR][1000 genomes]
rs4683410	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683648	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6762767	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6769618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9810697	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9856495	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9942	0.84[CEU][hapmap];0.95[GIH][hapmap];0.86[MEX][hapmap]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12695746	ATP1B3	cis	cerebellum	SCAN
rs12695746	ATP1B3	cis	lymphoblastoid	seeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141616200-141648600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:141621000-141670800	Weak transcription	Small Intestine	intestine
3	chr3:141622000-141647600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr3:141623600-141652400	Strong transcription	Fetal Thymus	thymus
5	chr3:141624600-141649200	Weak transcription	Brain Substantia Nigra	brain
6	chr3:141625600-141668400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr3:141626600-141659000	Weak transcription	Pancreas	Pancrea
8	chr3:141627600-141649200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr3:141627800-141652600	Weak transcription	Brain Anterior Caudate	brain
10	chr3:141628200-141673600	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:141628600-141658800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:141628600-141669000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr3:141628800-141669800	Weak transcription	Fetal Lung	lung
14	chr3:141628800-141674000	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:141629000-141739200	Weak transcription	Psoas Muscle	Psoas
16	chr3:141630600-141647400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:141630600-141647400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:141631200-141647600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr3:141632000-141647400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:141632000-141648800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:141632200-141647800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:141632200-141648000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr3:141632400-141654000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:141633000-141659000	Weak transcription	NHLF	lung
25	chr3:141633600-141648000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr3:141634200-141648600	Weak transcription	Aorta	Aorta
27	chr3:141634200-141682000	Weak transcription	Brain Angular Gyrus	brain
28	chr3:141634400-141648600	Weak transcription	Fetal Kidney	kidney
29	chr3:141634400-141656600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr3:141635400-141648200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:141635400-141648600	Strong transcription	Fetal Intestine Large	intestine
32	chr3:141635800-141652400	Weak transcription	HSMM	muscle
33	chr3:141635800-141652600	Strong transcription	Thymus	Thymus
34	chr3:141636200-141647800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:141636200-141648000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:141637400-141658800	Weak transcription	Brain Germinal Matrix	brain
37	chr3:141638200-141648200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr3:141638600-141648800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:141640200-141648200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:141640200-141650200	Weak transcription	GM12878-XiMat	blood
41	chr3:141640600-141656400	Weak transcription	Fetal Brain Male	brain
42	chr3:141640600-141658800	Weak transcription	Fetal Heart	heart
43	chr3:141640800-141659200	Weak transcription	Colonic Mucosa	Colon
44	chr3:141640800-141659200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr3:141641000-141652800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:141641200-141648200	Weak transcription	HepG2	liver
47	chr3:141641200-141648800	Strong transcription	Fetal Stomach	stomach
48	chr3:141641400-141647400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr3:141642200-141647600	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr3:141642800-141648800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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