Variant report

Variant	rs67272153
Chromosome Location	chr5:58510553-58510554
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17443688	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1867725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2216699	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56334860	0.80[EUR][1000 genomes]
rs59019685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61584344	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6450513	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66589198	0.92[EUR][1000 genomes]
rs67123835	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67656226	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6867240	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6867591	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6872782	0.89[ASN][1000 genomes]
rs72765910	1.00[EUR][1000 genomes]
rs72765918	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs974766	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][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	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58474400-58520000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:58485000-58518800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:58485600-58512400	Weak transcription	Pancreas	Pancrea
4	chr5:58485600-58518200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:58490000-58511600	Weak transcription	Gastric	stomach
6	chr5:58490400-58519200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:58491400-58515600	Weak transcription	Fetal Stomach	stomach
8	chr5:58492400-58510600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:58494400-58513600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr5:58496200-58515600	Weak transcription	Fetal Kidney	kidney
11	chr5:58501800-58512400	Weak transcription	Fetal Brain Male	brain
12	chr5:58502000-58517200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:58503200-58514400	Weak transcription	HUVEC	blood vessel
14	chr5:58505800-58512000	Genic enhancers	A549	lung
15	chr5:58506200-58512600	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr5:58506400-58512400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:58506400-58518200	Weak transcription	Left Ventricle	heart
18	chr5:58506400-58520400	Weak transcription	Stomach Mucosa	stomach
19	chr5:58506600-58513200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr5:58509200-58510600	Genic enhancers	Colon Smooth Muscle	Colon
21	chr5:58509200-58518400	Weak transcription	Brain Hippocampus Middle	brain
22	chr5:58509400-58518800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:58509600-58510600	Genic enhancers	Rectal Mucosa Donor 31	rectum
24	chr5:58509600-58511000	Enhancers	Fetal Lung	lung
25	chr5:58509800-58511000	Strong transcription	Stomach Smooth Muscle	stomach
26	chr5:58509800-58512000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:58509800-58512400	Weak transcription	Fetal Intestine Small	intestine
28	chr5:58510000-58510800	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr5:58510000-58511800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:58510000-58515600	Weak transcription	Psoas Muscle	Psoas
31	chr5:58510200-58510600	Enhancers	Fetal Heart	heart
32	chr5:58510200-58511000	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:58510200-58511200	Strong transcription	Fetal Intestine Large	intestine
34	chr5:58510200-58511800	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr5:58510200-58512600	Strong transcription	Hela-S3	cervix
36	chr5:58510200-58512800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr5:58510200-58517800	Weak transcription	Fetal Muscle Leg	muscle
38	chr5:58510400-58520000	Weak transcription	Right Ventricle	heart

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