Variant report

Variant	rs58686671
Chromosome Location	chr5:96438455-96438456
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73143113	1.00[AMR][1000 genomes]
rs73143114	1.00[AMR][1000 genomes]
rs73143118	1.00[AMR][1000 genomes]
rs73143120	1.00[AMR][1000 genomes]
rs73143127	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv830412	chr5:96427305-96606619	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96428400-96440000	Weak transcription	K562	blood
2	chr5:96432600-96439200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:96432800-96439000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:96432800-96445600	Weak transcription	Primary B cells from cord blood	blood
5	chr5:96434200-96438600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:96434600-96439200	Enhancers	Brain Cingulate Gyrus	brain
7	chr5:96435000-96447400	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:96437000-96438600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:96437000-96439200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:96437000-96439200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:96437000-96439200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:96437200-96439000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:96437200-96441400	Strong transcription	Primary B cells from peripheral blood	blood
14	chr5:96437400-96439200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:96437600-96441800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:96437800-96438600	Enhancers	Brain Hippocampus Middle	brain
17	chr5:96438000-96438600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:96438000-96439200	Enhancers	Brain Anterior Caudate	brain
19	chr5:96438000-96441600	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:96438200-96439000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:96438200-96439000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr5:96438200-96439200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:96438200-96440800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:96438200-96440800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:96438200-96441800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:96438200-96442000	Weak transcription	Fetal Stomach	stomach
27	chr5:96438400-96438600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:96438400-96438600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:96438400-96439000	Weak transcription	Brain Substantia Nigra	brain
30	chr5:96438400-96441800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:96438400-96443600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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