Variant report

Variant	rs6715016
Chromosome Location	chr2:134439034-134439035
allele	C/T
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:11)

rs_ID	r²[population]
rs10175700	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10439201	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12474261	0.80[ASN][1000 genomes]
rs1901436	0.93[ASN][1000 genomes]
rs1901440	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1901444	0.93[ASN][1000 genomes]
rs1993135	0.83[ASN][1000 genomes]
rs2321203	0.82[ASN][1000 genomes]
rs2874459	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4553871	0.80[ASN][1000 genomes]
rs6430443	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134432200-134441000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:134433000-134441200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:134434200-134439800	Weak transcription	Fetal Stomach	stomach
4	chr2:134434400-134439200	Weak transcription	Brain Germinal Matrix	brain
5	chr2:134434400-134439600	Weak transcription	Left Ventricle	heart
6	chr2:134434400-134439800	Weak transcription	Fetal Lung	lung
7	chr2:134434800-134439800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:134437800-134439800	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr2:134438000-134439200	Enhancers	Brain Angular Gyrus	brain
10	chr2:134438000-134439200	Enhancers	Brain Anterior Caudate	brain
11	chr2:134438000-134439200	Enhancers	Brain Cingulate Gyrus	brain
12	chr2:134438000-134441600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:134438200-134439600	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:134438600-134439400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:134438600-134439600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:134438600-134439600	Weak transcription	Brain Substantia Nigra	brain
17	chr2:134438600-134439800	Weak transcription	Fetal Heart	heart
18	chr2:134438800-134439200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:134439000-134439400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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