Variant report

Variant	rs73783995
Chromosome Location	chr5:127181188-127181189
allele	A/G
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:4)

rs_ID	r²[population]
rs55818815	0.87[AFR][1000 genomes]
rs55876185	0.87[AFR][1000 genomes]
rs56377425	0.87[AFR][1000 genomes]
rs58252744	0.87[AFR][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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv4992	chr5:127151699-127196349	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1797587	chr5:127156760-127196066	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127179400-127181200	Enhancers	Brain Germinal Matrix	brain
2	chr5:127179400-127181200	Enhancers	Brain Hippocampus Middle	brain
3	chr5:127179800-127181200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr5:127179800-127181400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr5:127180000-127181200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:127180000-127181200	Enhancers	Brain Cingulate Gyrus	brain
7	chr5:127180000-127181200	Enhancers	Fetal Brain Female	brain
8	chr5:127180000-127181400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:127180200-127181200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr5:127180200-127181200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr5:127180200-127181200	Enhancers	Gastric	stomach
12	chr5:127180200-127181400	Enhancers	Stomach Mucosa	stomach
13	chr5:127180400-127181200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:127180600-127184600	Weak transcription	Psoas Muscle	Psoas
15	chr5:127180600-127185600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr5:127180800-127181200	Enhancers	Brain Anterior Caudate	brain
17	chr5:127180800-127181400	Enhancers	Brain Substantia Nigra	brain
18	chr5:127180800-127185200	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:127181000-127182600	Weak transcription	Small Intestine	intestine
20	chr5:127181000-127182800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr5:127181000-127183600	Weak transcription	Colonic Mucosa	Colon
22	chr5:127181000-127183600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr5:127181000-127183600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr5:127181000-127185000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:127181000-127190200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:127181000-127193400	Weak transcription	Left Ventricle	heart

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