Variant report

Variant	rs7560018
Chromosome Location	chr2:47107332-47107333
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47104590..47107409-chr2:47107469..47109857,2	K562	blood:
2	chr2:47105936..47108502-chr2:47120489..47122812,2	K562	blood:
3	chr2:47105796..47108295-chr2:47125908..47128016,2	MCF-7	breast:
4	chr2:47102971..47104916-chr2:47106990..47109724,2	K562	blood:
5	chr2:47107200..47110279-chr2:47111432..47113663,3	K562	blood:

Variant related genes	Relation type
ENSG00000228925	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs13415771	0.93[YRI][hapmap]
rs6544933	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs66486830	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs720828	0.88[EUR][1000 genomes]
rs935378	0.81[JPT][hapmap]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7560018	OXER1	cis	cerebellum	SCAN
rs7560018	ATP6V1E2	cis	cerebellum	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47097400-47116200	Enhancers	NHDF-Ad	bronchial
2	chr2:47102200-47108400	Weak transcription	Adipose Nuclei	Adipose
3	chr2:47104400-47109000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:47104600-47108800	Weak transcription	Fetal Intestine Small	intestine
5	chr2:47105000-47108800	Weak transcription	HMEC	breast
6	chr2:47105000-47110000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:47105600-47107800	Weak transcription	Left Ventricle	heart
8	chr2:47105800-47107800	Weak transcription	Right Ventricle	heart
9	chr2:47105800-47115800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:47106000-47107400	Weak transcription	Fetal Kidney	kidney
11	chr2:47106000-47107800	Weak transcription	Hela-S3	cervix
12	chr2:47106000-47108200	Weak transcription	Colonic Mucosa	Colon
13	chr2:47106000-47110600	Weak transcription	Gastric	stomach
14	chr2:47106200-47107400	Weak transcription	Osteobl	bone
15	chr2:47106200-47107800	Weak transcription	HUVEC	blood vessel
16	chr2:47106200-47107800	Weak transcription	NH-A	brain
17	chr2:47106200-47108000	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:47106200-47108200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:47106200-47108400	Weak transcription	Spleen	Spleen
20	chr2:47106200-47108600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:47106400-47107400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:47106400-47107800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:47106400-47107800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:47106400-47107800	Weak transcription	Placenta	Placenta
25	chr2:47106400-47107800	Weak transcription	Lung	lung
26	chr2:47106400-47108200	Weak transcription	Ovary	ovary
27	chr2:47106400-47108200	Weak transcription	Pancreas	Pancrea
28	chr2:47106400-47108200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:47106400-47108400	Weak transcription	Right Atrium	heart
30	chr2:47106400-47108800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:47106400-47109600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:47106400-47109600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:47106400-47131000	Weak transcription	Esophagus	oesophagus
34	chr2:47106600-47107800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:47106600-47107800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:47106600-47107800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:47106600-47108200	Weak transcription	Fetal Muscle Leg	muscle
38	chr2:47106600-47108200	Weak transcription	HSMM	muscle
39	chr2:47106600-47108400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:47106600-47108400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr2:47106600-47108400	Weak transcription	Fetal Lung	lung
42	chr2:47106600-47108400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:47106600-47108800	Weak transcription	HSMMtube	muscle
44	chr2:47106600-47110000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:47106600-47116000	Weak transcription	Brain Angular Gyrus	brain
46	chr2:47107000-47107400	Enhancers	A549	lung
47	chr2:47107000-47108200	Weak transcription	Brain Hippocampus Middle	brain
48	chr2:47107000-47115800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:47107200-47108200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:47107200-47109000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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