Variant report

Variant	rs10044159
Chromosome Location	chr5:58414048-58414049
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10068809	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6886791	1.00[ASN][1000 genomes]
rs9968728	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58396200-58420000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:58399400-58419400	Weak transcription	Fetal Intestine Small	intestine
3	chr5:58401000-58418600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:58404200-58414200	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:58408400-58422600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:58410600-58414600	Enhancers	Fetal Heart	heart
7	chr5:58411200-58422800	Weak transcription	Right Ventricle	heart
8	chr5:58412000-58414200	Enhancers	Fetal Lung	lung
9	chr5:58412000-58414200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr5:58412200-58414600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:58412200-58414800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr5:58412400-58414800	Enhancers	Stomach Mucosa	stomach
13	chr5:58412400-58419600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr5:58412600-58419600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:58412600-58420000	Weak transcription	HSMMtube	muscle
16	chr5:58412800-58419600	Weak transcription	Hela-S3	cervix
17	chr5:58413000-58414600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr5:58413000-58415000	Enhancers	Psoas Muscle	Psoas
19	chr5:58413200-58414200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:58413200-58414400	Enhancers	HepG2	liver
21	chr5:58413400-58414400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:58413400-58416200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr5:58414000-58414200	Weak transcription	Small Intestine	intestine
24	chr5:58414000-58414600	Enhancers	Gastric	stomach
25	chr5:58414000-58414600	Genic enhancers	Left Ventricle	heart
26	chr5:58414000-58418200	Genic enhancers	A549	lung
27	chr5:58414000-58419200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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