Variant report

Variant	rs154223
Chromosome Location	chr5:58500858-58500859
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12658429	1.00[CEU][hapmap]
rs1445947	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.91[ASN][1000 genomes]
rs168834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16889611	1.00[CEU][hapmap]
rs16889682	1.00[CEU][hapmap]
rs16889696	1.00[CEU][hapmap]
rs16889743	1.00[CEU][hapmap]
rs17589745	1.00[CEU][hapmap]
rs27185	1.00[CEU][hapmap]
rs27532	1.00[CEU][hapmap]
rs6450516	1.00[CEU][hapmap]
rs6450518	1.00[CEU][hapmap]
rs6872808	1.00[CEU][hapmap]
rs6889851	1.00[CEU][hapmap]
rs6895685	1.00[CEU][hapmap]
rs6898269	1.00[CEU][hapmap]
rs7700870	1.00[CEU][hapmap]
rs7703702	1.00[CEU][hapmap]
rs7736808	1.00[CEU][hapmap]

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	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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58474400-58520000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:58484800-58501200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr5:58485000-58505200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:58485000-58518800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:58485600-58501600	Weak transcription	HUVEC	blood vessel
6	chr5:58485600-58512400	Weak transcription	Pancreas	Pancrea
7	chr5:58485600-58518200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr5:58486000-58508600	Weak transcription	Fetal Intestine Large	intestine
9	chr5:58490000-58509800	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:58490000-58511600	Weak transcription	Gastric	stomach
11	chr5:58490400-58501200	Weak transcription	Fetal Heart	heart
12	chr5:58490400-58519200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:58491400-58505800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr5:58491400-58509000	Weak transcription	Fetal Intestine Small	intestine
15	chr5:58491400-58515600	Weak transcription	Fetal Stomach	stomach
16	chr5:58492000-58505600	Weak transcription	Hela-S3	cervix
17	chr5:58492400-58510600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:58494400-58513600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:58494600-58510000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:58496000-58501600	Weak transcription	Fetal Lung	lung
21	chr5:58496200-58515600	Weak transcription	Fetal Kidney	kidney
22	chr5:58498600-58506200	Weak transcription	Aorta	Aorta
23	chr5:58498800-58501800	Genic enhancers	A549	lung
24	chr5:58500200-58503200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr5:58500200-58503600	Enhancers	Colon Smooth Muscle	Colon
26	chr5:58500200-58506400	Enhancers	Rectal Smooth Muscle	rectum
27	chr5:58500400-58501000	Enhancers	Brain Angular Gyrus	brain
28	chr5:58500400-58501200	Enhancers	Brain Substantia Nigra	brain
29	chr5:58500400-58501600	Enhancers	Left Ventricle	heart
30	chr5:58500400-58501600	Enhancers	Right Ventricle	heart
31	chr5:58500400-58502400	Enhancers	Stomach Smooth Muscle	stomach
32	chr5:58500400-58503000	Enhancers	Psoas Muscle	Psoas
33	chr5:58500800-58501000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:58500800-58501000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr5:58500800-58502200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr5:58500800-58502400	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr5:58500800-58503000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr5:58500800-58503000	Enhancers	Right Atrium	heart
39	chr5:58500800-58503200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:58500800-58503400	Enhancers	Osteobl	bone

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