Variant report

Variant	rs73104864
Chromosome Location	chr5:58494505-58494506
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11948460	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2216699	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56334860	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66589198	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs922436	0.83[ASN][1000 genomes]
rs974766	0.82[AMR][1000 genomes];0.81[EUR][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	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	nsv1023570	chr5:58486384-58537849	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv598252	chr5:58487764-58618889	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3420776	chr5:58493695-58498393	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58474400-58520000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:58484600-58495600	Weak transcription	Fetal Kidney	kidney
3	chr5:58484800-58501200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:58485000-58499000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:58485000-58505200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:58485000-58518800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:58485600-58500400	Weak transcription	Psoas Muscle	Psoas
8	chr5:58485600-58501600	Weak transcription	HUVEC	blood vessel
9	chr5:58485600-58512400	Weak transcription	Pancreas	Pancrea
10	chr5:58485600-58518200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:58486000-58508600	Weak transcription	Fetal Intestine Large	intestine
12	chr5:58489800-58500400	Weak transcription	Right Ventricle	heart
13	chr5:58490000-58495800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr5:58490000-58500400	Weak transcription	Left Ventricle	heart
15	chr5:58490000-58509800	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:58490000-58511600	Weak transcription	Gastric	stomach
17	chr5:58490400-58501200	Weak transcription	Fetal Heart	heart
18	chr5:58490400-58519200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:58491400-58505800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:58491400-58509000	Weak transcription	Fetal Intestine Small	intestine
21	chr5:58491400-58515600	Weak transcription	Fetal Stomach	stomach
22	chr5:58492000-58505600	Weak transcription	Hela-S3	cervix
23	chr5:58492400-58510600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:58493400-58500800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:58493600-58494800	Enhancers	Colon Smooth Muscle	Colon
26	chr5:58493600-58494800	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr5:58493800-58495000	Genic enhancers	A549	lung
28	chr5:58494000-58496000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr5:58494400-58494600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:58494400-58495800	Weak transcription	Fetal Lung	lung
31	chr5:58494400-58495800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr5:58494400-58500400	Weak transcription	Brain Substantia Nigra	brain
33	chr5:58494400-58513600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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