Variant report

Variant	rs2383342
Chromosome Location	chr14:33025300-33025301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17099228	1.00[AMR][1000 genomes]
rs17099234	0.83[AMR][1000 genomes]
rs60685515	0.83[AMR][1000 genomes]
rs73269447	0.83[AMR][1000 genomes]
rs73273435	0.83[AMR][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	nsv1045035	chr14:32986003-33543227	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542021	chr14:32986003-33543227	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33001800-33030000	Weak transcription	Fetal Brain Male	brain
2	chr14:33012000-33028000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:33012000-33028600	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:33012600-33029400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:33014600-33026000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:33015000-33029200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr14:33015800-33028000	Weak transcription	Liver	Liver
8	chr14:33016000-33026400	Weak transcription	Aorta	Aorta
9	chr14:33016000-33029200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr14:33016200-33026800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr14:33016400-33028600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:33017200-33028800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr14:33019200-33029000	Weak transcription	Brain Anterior Caudate	brain
14	chr14:33019200-33033800	Weak transcription	Psoas Muscle	Psoas
15	chr14:33019600-33034200	Weak transcription	Left Ventricle	heart
16	chr14:33020400-33026800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr14:33020400-33028400	Weak transcription	Brain Hippocampus Middle	brain
18	chr14:33020400-33029000	Weak transcription	Brain Substantia Nigra	brain
19	chr14:33020400-33030800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:33023800-33026600	Weak transcription	Fetal Heart	heart
21	chr14:33024200-33029000	Weak transcription	Fetal Brain Female	brain
22	chr14:33024600-33033800	Weak transcription	Fetal Muscle Leg	muscle
23	chr14:33025000-33025400	Weak transcription	HSMMtube	muscle
24	chr14:33025000-33026600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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