Variant report

Variant	rs61376005
Chromosome Location	chr14:56171557-56171558
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10135124	1.00[EUR][1000 genomes]
rs17128607	1.00[EUR][1000 genomes]
rs28505708	1.00[EUR][1000 genomes]
rs28625011	1.00[EUR][1000 genomes]
rs55996108	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59412666	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59453610	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60593092	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73289560	1.00[EUR][1000 genomes]
rs74051604	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74051605	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74051606	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74051613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56102400-56185400	Weak transcription	Right Ventricle	heart
2	chr14:56148000-56174000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:56153400-56174000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr14:56153800-56172000	Weak transcription	Esophagus	oesophagus
5	chr14:56153800-56172400	Weak transcription	Dnd41	blood
6	chr14:56153800-56173800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:56153800-56174000	Weak transcription	Brain Anterior Caudate	brain
8	chr14:56154000-56172400	Weak transcription	Lung	lung
9	chr14:56154000-56173800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr14:56154000-56177800	Weak transcription	Left Ventricle	heart
11	chr14:56154000-56191000	Weak transcription	Aorta	Aorta
12	chr14:56154400-56177800	Weak transcription	Fetal Muscle Leg	muscle
13	chr14:56154800-56174000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:56155600-56173600	Weak transcription	Primary T cells from cord blood	blood
15	chr14:56157600-56172400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr14:56157600-56178000	Weak transcription	Psoas Muscle	Psoas
17	chr14:56157600-56180000	Weak transcription	Primary B cells from cord blood	blood
18	chr14:56157800-56172200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr14:56162800-56174000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:56164600-56179600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:56166000-56172200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:56166200-56173800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr14:56166400-56172800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr14:56166400-56173600	Weak transcription	NHLF	lung
25	chr14:56166600-56171800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:56168600-56174600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr14:56168800-56171600	Weak transcription	HSMM	muscle
28	chr14:56169000-56172400	Weak transcription	Spleen	Spleen
29	chr14:56169000-56172800	Weak transcription	A549	lung
30	chr14:56169000-56177400	Weak transcription	Osteobl	bone
31	chr14:56169200-56171800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:56169600-56172600	Strong transcription	HSMMtube	muscle
33	chr14:56169600-56173600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:56169600-56182400	Weak transcription	GM12878-XiMat	blood
35	chr14:56169800-56174000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr14:56170000-56171800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr14:56170000-56182400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:56170400-56182400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:56170800-56177800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:56171400-56174000	Enhancers	Pancreatic Islets	Pancreatic Islet

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