Variant report

Variant	rs73104881
Chromosome Location	chr5:58502286-58502287
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10056619	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16889276	1.00[ASN][1000 genomes]
rs17528543	1.00[ASN][1000 genomes]
rs17528550	1.00[ASN][1000 genomes]
rs17723785	1.00[ASN][1000 genomes]
rs73106876	1.00[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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58474400-58520000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:58485000-58505200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:58485000-58518800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:58485600-58512400	Weak transcription	Pancreas	Pancrea
5	chr5:58485600-58518200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:58486000-58508600	Weak transcription	Fetal Intestine Large	intestine
7	chr5:58490000-58509800	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:58490000-58511600	Weak transcription	Gastric	stomach
9	chr5:58490400-58519200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:58491400-58505800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr5:58491400-58509000	Weak transcription	Fetal Intestine Small	intestine
12	chr5:58491400-58515600	Weak transcription	Fetal Stomach	stomach
13	chr5:58492000-58505600	Weak transcription	Hela-S3	cervix
14	chr5:58492400-58510600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:58494400-58513600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:58494600-58510000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:58496200-58515600	Weak transcription	Fetal Kidney	kidney
18	chr5:58498600-58506200	Weak transcription	Aorta	Aorta
19	chr5:58500200-58503200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr5:58500200-58503600	Enhancers	Colon Smooth Muscle	Colon
21	chr5:58500200-58506400	Enhancers	Rectal Smooth Muscle	rectum
22	chr5:58500400-58502400	Enhancers	Stomach Smooth Muscle	stomach
23	chr5:58500400-58503000	Enhancers	Psoas Muscle	Psoas
24	chr5:58500800-58502400	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr5:58500800-58503000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr5:58500800-58503000	Enhancers	Right Atrium	heart
27	chr5:58500800-58503200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:58500800-58503400	Enhancers	Osteobl	bone
29	chr5:58501000-58503000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr5:58501200-58502400	Enhancers	Fetal Heart	heart
31	chr5:58501200-58503600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:58501400-58502400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:58501400-58502600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr5:58501400-58502800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:58501600-58502400	Enhancers	HSMMtube	muscle
36	chr5:58501600-58502600	Weak transcription	Left Ventricle	heart
37	chr5:58501600-58502600	Weak transcription	Right Ventricle	heart
38	chr5:58501600-58502600	Enhancers	HSMM	muscle
39	chr5:58501600-58503000	Enhancers	NH-A	brain
40	chr5:58501600-58503200	Enhancers	HUVEC	blood vessel
41	chr5:58501800-58502600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:58501800-58505800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr5:58501800-58512400	Weak transcription	Fetal Brain Male	brain
44	chr5:58502000-58502800	Flanking Active TSS	A549	lung
45	chr5:58502000-58509000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:58502000-58517200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr5:58502200-58503000	Weak transcription	Fetal Lung	lung
48	chr5:58502200-58504800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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