Variant report

Variant	rs61979253
Chromosome Location	chr14:80957467-80957468
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10131256	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10220537	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10498538	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11159465	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12147846	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12587661	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12588053	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1551070	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2122431	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2197986	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs41352756	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57658027	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61979242	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61979251	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61991590	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6574579	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6574580	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6574581	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6574583	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67982332	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7143237	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7149914	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7156166	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8011476	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8020992	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8021020	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8021228	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8022385	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9323686	0.80[AMR][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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80939200-80980800	Weak transcription	Primary T cells from cord blood	blood
2	chr14:80941600-80989200	Weak transcription	Left Ventricle	heart
3	chr14:80944200-80957600	Weak transcription	Fetal Thymus	thymus
4	chr14:80951800-81003000	Weak transcription	Psoas Muscle	Psoas
5	chr14:80956800-80957800	Enhancers	Dnd41	blood
6	chr14:80956800-80958800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr14:80956800-80958800	Enhancers	HSMM	muscle
8	chr14:80957000-80957600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:80957200-80957600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:80957200-80957800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr14:80957200-80957800	Enhancers	HSMMtube	muscle
12	chr14:80957200-80958000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr14:80957200-80958000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr14:80957200-80958000	Enhancers	Brain Hippocampus Middle	brain
15	chr14:80957200-80958200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr14:80957200-80958600	Enhancers	Fetal Lung	lung
17	chr14:80957200-80960200	Enhancers	Fetal Muscle Leg	muscle
18	chr14:80957400-80957600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:80957400-80957600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr14:80957400-80957600	Active TSS	NHDF-Ad	bronchial
21	chr14:80957400-80957800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:80957400-80957800	Enhancers	Brain Angular Gyrus	brain
23	chr14:80957400-80958000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr14:80957400-80958200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr14:80957400-80958200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:80957400-80958200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:80957400-80958200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:80957400-80958200	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr14:80957400-80958200	Enhancers	Stomach Mucosa	stomach
30	chr14:80957400-80958400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr14:80957400-80958400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr14:80957400-80958400	Enhancers	Brain Cingulate Gyrus	brain
33	chr14:80957400-80958400	Enhancers	Brain Substantia Nigra	brain

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