Variant report

Variant	rs6954360
Chromosome Location	chr7:128146904-128146905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10241284	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10257068	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10257074	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10258178	0.81[EUR][1000 genomes]
rs10262492	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13233022	0.85[EUR][1000 genomes]
rs34774721	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6943285	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6943964	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6950557	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7792770	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7806863	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7807302	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9690423	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9986842	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[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	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	esv1794896	chr7:128142170-128170380	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6954360	METTL2B	cis	Skin Sun Exposed Lower leg	GTEx
rs6954360	METTL2B	cis	Artery Tibial	GTEx
rs6954360	METTL2B	cis	Thyroid	GTEx
rs6954360	METTL2B	cis	Nerve Tibial	GTEx

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128117800-128162800	Weak transcription	Pancreas	Pancrea
2	chr7:128117800-128163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:128118400-128147000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:128121400-128147000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:128122000-128155400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:128122400-128156800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:128138000-128147200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:128138000-128147800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:128138200-128147600	Weak transcription	Small Intestine	intestine
10	chr7:128141600-128150600	Weak transcription	Fetal Brain Female	brain
11	chr7:128141800-128152000	Weak transcription	K562	blood
12	chr7:128142000-128147000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:128142000-128147000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:128142000-128147200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr7:128142000-128147200	Weak transcription	Brain Anterior Caudate	brain
16	chr7:128142000-128150200	Weak transcription	Primary T cells from cord blood	blood
17	chr7:128142000-128151400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:128142200-128147400	Weak transcription	Liver	Liver
19	chr7:128142200-128147600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:128142200-128148200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr7:128142200-128148400	Weak transcription	Spleen	Spleen
22	chr7:128142200-128149400	Weak transcription	Thymus	Thymus
23	chr7:128142200-128152600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:128142200-128163200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr7:128142400-128147000	Weak transcription	Brain Hippocampus Middle	brain
26	chr7:128142400-128147800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:128142400-128152200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:128142600-128147000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:128142600-128147000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr7:128142600-128147000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr7:128142600-128148000	Weak transcription	Fetal Intestine Large	intestine
32	chr7:128142600-128152000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:128142800-128147000	Weak transcription	Brain Angular Gyrus	brain
34	chr7:128142800-128152000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr7:128143000-128149200	Weak transcription	Placenta	Placenta
36	chr7:128143000-128149200	Weak transcription	Left Ventricle	heart
37	chr7:128143000-128149600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:128143400-128151000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:128143600-128147200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:128143600-128155400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:128143800-128149000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:128143800-128160000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:128144000-128152000	Weak transcription	Adipose Nuclei	Adipose
44	chr7:128144600-128148400	Weak transcription	Fetal Thymus	thymus
45	chr7:128144600-128150600	Weak transcription	Fetal Intestine Small	intestine
46	chr7:128145000-128151400	Weak transcription	Fetal Stomach	stomach
47	chr7:128145600-128147000	Enhancers	GM12878-XiMat	blood
48	chr7:128145800-128148000	Enhancers	Primary B cells from peripheral blood	blood
49	chr7:128146000-128150200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:128146200-128151600	Weak transcription	Primary monocytes fromperipheralblood	blood

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