Variant report

Variant	rs12614366
Chromosome Location	chr2:47075697-47075698
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47044554..47046907-chr2:47075215..47076971,2	K562	blood:
2	chr2:47075084..47076988-chr2:47102023..47103595,2	K562	blood:
3	chr2:47070844..47074543-chr2:47075067..47077968,4	K562	blood:

Variant related genes	Relation type
ENSG00000239332	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1579862	0.86[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs1579863	0.83[ASN][1000 genomes]
rs17035766	0.96[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36114719	0.88[EUR][1000 genomes]
rs4953427	0.82[JPT][hapmap];0.80[MEX][hapmap]
rs7568679	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs9225	0.83[MEX][hapmap]
rs935372	0.83[MEX][hapmap]
rs935373	0.82[ASW][hapmap];1.00[CEU][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.82[LWK][hapmap];0.96[MEX][hapmap];0.85[MKK][hapmap];0.93[TSI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs935374	0.80[CHD][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12614366	ATP6V1E2	cis	cerebellum	SCAN

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47069400-47082400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:47072000-47078400	Enhancers	Lung	lung
3	chr2:47072000-47078400	Enhancers	Right Ventricle	heart
4	chr2:47072000-47078600	Enhancers	Fetal Stomach	stomach
5	chr2:47072000-47078600	Enhancers	Ovary	ovary
6	chr2:47072200-47077000	Enhancers	Placenta	Placenta
7	chr2:47072200-47078400	Enhancers	Left Ventricle	heart
8	chr2:47072200-47078600	Enhancers	Pancreas	Pancrea
9	chr2:47072200-47078800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr2:47072400-47078600	Enhancers	Fetal Intestine Small	intestine
11	chr2:47072600-47077600	Enhancers	Brain Hippocampus Middle	brain
12	chr2:47072600-47078000	Enhancers	Small Intestine	intestine
13	chr2:47072600-47078400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:47072600-47078400	Enhancers	Fetal Heart	heart
15	chr2:47072600-47078800	Enhancers	HUVEC	blood vessel
16	chr2:47072600-47080400	Enhancers	HMEC	breast
17	chr2:47072800-47076000	Enhancers	Brain Substantia Nigra	brain
18	chr2:47072800-47076200	Enhancers	Fetal Muscle Leg	muscle
19	chr2:47072800-47077200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:47072800-47078000	Enhancers	Fetal Intestine Large	intestine
21	chr2:47072800-47078600	Enhancers	Right Atrium	heart
22	chr2:47072800-47078600	Enhancers	NHDF-Ad	bronchial
23	chr2:47072800-47080200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:47072800-47080400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:47073000-47077000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:47073000-47078200	Enhancers	Adipose Nuclei	Adipose
27	chr2:47073000-47078200	Enhancers	Fetal Kidney	kidney
28	chr2:47073200-47076600	Enhancers	Liver	Liver
29	chr2:47073400-47075800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr2:47073400-47075800	Enhancers	HSMMtube	muscle
31	chr2:47073400-47075800	Enhancers	NH-A	brain
32	chr2:47073400-47076400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:47073400-47076600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:47073400-47077600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr2:47073400-47078000	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr2:47073400-47078600	Enhancers	Stomach Mucosa	stomach
37	chr2:47073400-47078600	Enhancers	Osteobl	bone
38	chr2:47073600-47075800	Enhancers	Brain Anterior Caudate	brain
39	chr2:47073600-47076600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:47073600-47077200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:47073600-47077400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:47073600-47077800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:47073600-47078000	Enhancers	Esophagus	oesophagus
44	chr2:47073600-47078600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:47073600-47078800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:47073800-47078000	Enhancers	Fetal Thymus	thymus
47	chr2:47073800-47078400	Enhancers	Psoas Muscle	Psoas
48	chr2:47073800-47078400	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr2:47073800-47078600	Enhancers	NHEK	skin
50	chr2:47074000-47077200	Enhancers	Aorta	Aorta

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