Variant report

Variant	rs61977533
Chromosome Location	chr14:70815070-70815071
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11622440	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623369	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627020	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34658788	0.81[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs61977533	COX16	cis	Muscle Skeletal	GTEx
rs61977533	COX16	cis	Heart Left Ventricle	GTEx
rs61977533	RP11-718G2.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70792800-70825200	Weak transcription	NH-A	brain
2	chr14:70798000-70817200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:70800000-70825000	Weak transcription	HSMM	muscle
4	chr14:70800600-70821000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:70800800-70824800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr14:70801200-70815200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:70801200-70815800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:70801200-70822000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr14:70801200-70824200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr14:70801200-70825200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:70801800-70824400	Weak transcription	NHDF-Ad	bronchial
12	chr14:70802000-70824800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr14:70802000-70824800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr14:70802200-70815200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:70802200-70822200	Weak transcription	NHEK	skin
16	chr14:70802400-70824800	Weak transcription	Brain Anterior Caudate	brain
17	chr14:70802600-70824800	Weak transcription	Brain Substantia Nigra	brain
18	chr14:70805000-70819000	ZNF genes & repeats	GM12878-XiMat	blood
19	chr14:70805000-70825200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr14:70806400-70823600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:70806600-70825200	Weak transcription	Fetal Kidney	kidney
22	chr14:70806800-70821200	Weak transcription	Aorta	Aorta
23	chr14:70806800-70825600	Weak transcription	Small Intestine	intestine
24	chr14:70807000-70821000	Weak transcription	Gastric	stomach
25	chr14:70807200-70822400	Weak transcription	Psoas Muscle	Psoas
26	chr14:70807400-70821400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:70807600-70821400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:70807800-70825200	Weak transcription	A549	lung
29	chr14:70808200-70817400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr14:70808600-70821200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:70808600-70821800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:70809000-70821200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr14:70809800-70821200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr14:70810600-70816000	ZNF genes & repeats	Fetal Stomach	stomach
35	chr14:70810600-70817200	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr14:70810600-70817400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
37	chr14:70810800-70821400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr14:70811200-70815800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
39	chr14:70811400-70824400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr14:70811600-70825000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr14:70811800-70820800	Weak transcription	Adipose Nuclei	Adipose
42	chr14:70812000-70815800	Weak transcription	Left Ventricle	heart
43	chr14:70812000-70822600	Weak transcription	Esophagus	oesophagus
44	chr14:70812000-70824600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:70812200-70816200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:70812400-70816000	Weak transcription	Pancreas	Pancrea
47	chr14:70812600-70821000	Weak transcription	Ovary	ovary
48	chr14:70812800-70821000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:70813000-70821000	Weak transcription	Liver	Liver
50	chr14:70813000-70823600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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