Variant report

Variant	rs61978831
Chromosome Location	chr14:25434898-25434899
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:25434060..25436749-chr14:25474798..25476702,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17109384	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17109435	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17109468	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61978830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61978832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61978835	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61978837	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv901508	chr14:25365505-25451903	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1041051	chr14:25388230-25480511	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1047792	chr14:25388933-25503799	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv901509	chr14:25398571-25743484	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25424600-25460600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr14:25426400-25435000	Weak transcription	Aorta	Aorta
3	chr14:25428200-25435000	Weak transcription	Osteobl	bone
4	chr14:25429600-25435000	Weak transcription	Adipose Nuclei	Adipose
5	chr14:25429600-25435000	Weak transcription	Right Atrium	heart
6	chr14:25430000-25435000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:25430000-25435000	Weak transcription	Liver	Liver
8	chr14:25430000-25435000	Weak transcription	Gastric	stomach
9	chr14:25430000-25435000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr14:25430000-25435000	Weak transcription	NHLF	lung
11	chr14:25430000-25465800	Weak transcription	Lung	lung
12	chr14:25430200-25435000	Weak transcription	Fetal Lung	lung
13	chr14:25430600-25435000	Weak transcription	Fetal Stomach	stomach
14	chr14:25432600-25435000	Enhancers	Stomach Smooth Muscle	stomach
15	chr14:25432800-25436800	Enhancers	Brain Hippocampus Middle	brain
16	chr14:25433000-25435200	Enhancers	Right Ventricle	heart
17	chr14:25433000-25439200	Enhancers	Fetal Intestine Small	intestine
18	chr14:25433200-25435000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:25433200-25436200	Enhancers	Brain Cingulate Gyrus	brain
20	chr14:25433200-25436400	Enhancers	Brain Anterior Caudate	brain
21	chr14:25433200-25436400	Enhancers	Colon Smooth Muscle	Colon
22	chr14:25433200-25436400	Enhancers	Fetal Heart	heart
23	chr14:25433400-25435000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:25433400-25435000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:25433400-25435000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr14:25433400-25435200	Enhancers	Left Ventricle	heart
27	chr14:25433400-25435200	Enhancers	Pancreas	Pancrea
28	chr14:25433400-25436200	Enhancers	Brain Substantia Nigra	brain
29	chr14:25433400-25436400	Enhancers	Stomach Mucosa	stomach
30	chr14:25433400-25436600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr14:25433800-25435000	Weak transcription	Fetal Intestine Large	intestine
32	chr14:25433800-25435000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr14:25434000-25435000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:25434000-25435600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr14:25434000-25436000	Weak transcription	Psoas Muscle	Psoas
36	chr14:25434000-25436400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:25434200-25436600	Enhancers	HSMMtube	muscle
38	chr14:25434400-25435000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr14:25434400-25436000	Enhancers	Brain Angular Gyrus	brain
40	chr14:25434400-25436400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr14:25434400-25436600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:25434600-25435000	Weak transcription	HepG2	liver
43	chr14:25434600-25435000	Enhancers	NHDF-Ad	bronchial
44	chr14:25434800-25435000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:25434800-25435200	Enhancers	Hela-S3	cervix
46	chr14:25434800-25435400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:25434800-25435400	Flanking Active TSS	HSMM	muscle
48	chr14:25434800-25436400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:25434800-25436400	Enhancers	Fetal Brain Male	brain
50	chr14:25434800-25436400	Enhancers	Rectal Smooth Muscle	rectum

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