Variant report

Variant	rs59255338
Chromosome Location	chr5:126340660-126340661
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126340214..126343734-chr5:126363526..126366722,3	K562	blood:
2	chr5:126340621..126343923-chr5:126345092..126348302,3	K562	blood:
3	chr5:126340043..126342118-chr5:126347777..126350003,2	K562	blood:
4	chr5:126337313..126339043-chr5:126340519..126342260,2	K562	blood:
5	chr5:126307472..126309947-chr5:126340018..126342681,3	K562	blood:

Variant related genes	Relation type
ENSG00000173926	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11241915	0.89[ASN][1000 genomes]
rs17165220	0.89[ASN][1000 genomes]
rs17165223	0.85[ASN][1000 genomes]
rs17839706	0.89[ASN][1000 genomes]
rs2240529	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2240530	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs55736801	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs55780389	1.00[ASN][1000 genomes]
rs55807699	0.89[ASN][1000 genomes]
rs55887767	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55926617	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55958512	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56063325	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs56102558	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56298765	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs57273792	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57394214	0.89[ASN][1000 genomes]
rs57448612	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57496473	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57691405	1.00[AFR][1000 genomes]
rs58170839	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs59022768	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59584486	0.89[ASN][1000 genomes]
rs59722252	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60381307	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60409361	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs61137046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61563447	1.00[ASN][1000 genomes]
rs61563838	0.89[ASN][1000 genomes]
rs73783474	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783479	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783483	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783485	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73783486	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783489	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783491	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783494	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73783499	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73783500	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73783511	1.00[ASN][1000 genomes]
rs73783517	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73783518	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73783519	0.89[ASN][1000 genomes]
rs73783522	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73786208	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786211	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786236	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786237	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786243	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786248	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786254	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786256	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786257	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786289	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786297	1.00[ASN][1000 genomes]
rs73786300	1.00[ASN][1000 genomes]
rs73786301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786302	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73787405	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73787409	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	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126320800-126356000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:126325600-126342000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:126334200-126342000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:126334400-126345400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:126334400-126363000	Weak transcription	Ovary	ovary
6	chr5:126334600-126351000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:126335800-126341000	Enhancers	HSMM	muscle
8	chr5:126336200-126345800	Weak transcription	Left Ventricle	heart
9	chr5:126336800-126341000	Enhancers	Fetal Muscle Leg	muscle
10	chr5:126337400-126344000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:126337600-126348600	Weak transcription	Right Ventricle	heart
12	chr5:126338000-126341400	Enhancers	Fetal Heart	heart
13	chr5:126338000-126341400	Enhancers	Stomach Mucosa	stomach
14	chr5:126338400-126342200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:126338400-126342400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:126338400-126344000	Weak transcription	Psoas Muscle	Psoas
17	chr5:126338600-126340800	Enhancers	HSMMtube	muscle
18	chr5:126338600-126341200	Enhancers	Pancreas	Pancrea
19	chr5:126338600-126342000	Weak transcription	NHLF	lung
20	chr5:126338600-126342200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:126338800-126342000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:126338800-126342400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:126338800-126345200	Weak transcription	Osteobl	bone
24	chr5:126338800-126345400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:126338800-126345400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:126338800-126345600	Weak transcription	NHDF-Ad	bronchial
27	chr5:126338800-126346600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr5:126338800-126347000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:126339200-126340800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:126339400-126340800	Enhancers	Brain Substantia Nigra	brain
31	chr5:126339400-126341000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr5:126339400-126341400	Enhancers	Primary B cells from peripheral blood	blood
33	chr5:126339600-126343600	Weak transcription	K562	blood
34	chr5:126339800-126340800	Weak transcription	HUVEC	blood vessel
35	chr5:126339800-126344000	Weak transcription	Right Atrium	heart
36	chr5:126339800-126346000	Weak transcription	NH-A	brain
37	chr5:126340200-126340800	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr5:126340200-126347600	Weak transcription	Primary B cells from cord blood	blood
39	chr5:126340600-126342000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:126340600-126342400	Weak transcription	Brain Hippocampus Middle	brain
41	chr5:126340600-126343200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:126340600-126343400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr5:126340600-126343600	Weak transcription	Brain Anterior Caudate	brain
44	chr5:126340600-126343800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr5:126340600-126345400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr5:126340600-126345600	Weak transcription	Small Intestine	intestine
47	chr5:126340600-126347000	Weak transcription	Brain Angular Gyrus	brain
48	chr5:126340600-126347600	Weak transcription	Primary T cells from cord blood	blood
49	chr5:126340600-126348800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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