Variant report

Variant	rs62483278
Chromosome Location	chr7:128173720-128173721
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10241631	0.81[AMR][1000 genomes]
rs7795141	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs62483278	RP11-274B21.2	cis	Muscle Skeletal	GTEx
rs62483278	RP11-274B21.4	cis	lung	GTEx
rs62483278	RP11-274B21.1	cis	lung	GTEx
rs62483278	RP11-274B21.2	cis	lung	GTEx
rs62483278	RP11-274B21.1	cis	Nerve Tibial	GTEx
rs62483278	RP11-274B21.3	cis	Nerve Tibial	GTEx
rs62483278	CICP14	cis	Nerve Tibial	GTEx
rs62483278	RP11-274B21.1	cis	Skin Sun Exposed Lower leg	GTEx
rs62483278	RP11-274B21.4	cis	Stomach	GTEx
rs62483278	RP11-274B21.4	cis	Nerve Tibial	GTEx
rs62483278	RP11-274B21.2	cis	Thyroid	GTEx
rs62483278	RP11-274B21.2	cis	Skin Sun Exposed Lower leg	GTEx
rs62483278	RP11-274B21.4	cis	Thyroid	GTEx
rs62483278	RP11-274B21.4	cis	Skin Sun Exposed Lower leg	GTEx
rs62483278	RP11-274B21.4	cis	Esophagus Mucosa	GTEx
rs62483278	RP11-274B21.1	cis	Thyroid	GTEx
rs62483278	CICP14	cis	Thyroid	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128169600-128174200	Active TSS	Fetal Brain Female	brain
2	chr7:128169800-128173800	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr7:128169800-128174000	Active TSS	NHLF	lung
4	chr7:128170200-128174000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:128170200-128174000	Active TSS	HSMMtube	muscle
6	chr7:128170400-128174000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr7:128170400-128174200	Active TSS	GM12878-XiMat	blood
8	chr7:128171800-128173800	Active TSS	Right Atrium	heart
9	chr7:128171800-128174000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:128172000-128173800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:128172200-128173800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:128172200-128174000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:128172600-128173800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr7:128172600-128173800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:128172600-128173800	Enhancers	Fetal Lung	lung
16	chr7:128172600-128174000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:128172600-128174600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:128172600-128178600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:128172600-128178800	Weak transcription	Esophagus	oesophagus
20	chr7:128172600-128179200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:128172600-128179400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:128172600-128179600	Weak transcription	Lung	lung
23	chr7:128172600-128184800	Weak transcription	Spleen	Spleen
24	chr7:128172600-128187600	Weak transcription	Pancreas	Pancrea
25	chr7:128172600-128189800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr7:128172600-128191000	Weak transcription	Ovary	ovary
27	chr7:128172600-128191200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:128172600-128193400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:128172600-128210800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:128172600-128214800	Weak transcription	Gastric	stomach
31	chr7:128172800-128173800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr7:128172800-128173800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr7:128172800-128173800	Enhancers	Brain Substantia Nigra	brain
34	chr7:128172800-128174000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr7:128172800-128174400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr7:128172800-128175400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:128172800-128175400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:128172800-128175400	Weak transcription	Placenta	Placenta
39	chr7:128172800-128239800	Weak transcription	Small Intestine	intestine
40	chr7:128173000-128173800	Enhancers	Primary B cells from cord blood	blood
41	chr7:128173000-128173800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:128173000-128173800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:128173000-128173800	Enhancers	Liver	Liver
44	chr7:128173000-128174000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr7:128173000-128174000	Enhancers	Brain Cingulate Gyrus	brain
46	chr7:128173000-128174000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr7:128173000-128174600	Weak transcription	Fetal Stomach	stomach
48	chr7:128173000-128174800	Weak transcription	Left Ventricle	heart
49	chr7:128173000-128178800	Weak transcription	Stomach Mucosa	stomach
50	chr7:128173000-128188000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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