Variant report

Variant	rs73786289
Chromosome Location	chr5:126335844-126335845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126112243..126113917-chr5:126335572..126338305,2	K562	blood:
2	chr5:126306231..126308106-chr5:126335783..126337788,2	K562	blood:
3	chr5:126335488..126338606-chr5:126364864..126367708,3	K562	blood:
4	chr5:126335673..126339523-chr5:126342443..126346025,3	K562	blood:

Variant related genes	Relation type
ENSG00000113368	Chromatin interaction
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	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2240530	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs55736801	0.89[ASN][1000 genomes]
rs55780389	1.00[ASN][1000 genomes]
rs55807699	0.89[ASN][1000 genomes]
rs55887767	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55926617	1.00[ASN][1000 genomes]
rs55958512	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56063325	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs56102558	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56298765	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs57273792	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57394214	0.89[ASN][1000 genomes]
rs57448612	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57496473	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57691405	0.83[AFR][1000 genomes]
rs58170839	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs59022768	0.89[ASN][1000 genomes]
rs59255338	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59584486	0.89[ASN][1000 genomes]
rs59722252	1.00[ASN][1000 genomes]
rs60381307	0.89[ASN][1000 genomes]
rs60409361	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs61137046	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61563447	1.00[ASN][1000 genomes]
rs61563838	0.89[ASN][1000 genomes]
rs73783474	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783479	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783483	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783485	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73783486	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783489	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783491	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783494	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73783499	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73783500	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73783511	1.00[ASN][1000 genomes]
rs73783517	0.89[ASN][1000 genomes]
rs73783518	0.89[ASN][1000 genomes]
rs73783519	0.89[ASN][1000 genomes]
rs73783522	0.89[ASN][1000 genomes]
rs73786208	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786211	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786236	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786237	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786243	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786248	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786254	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786256	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786257	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786297	1.00[ASN][1000 genomes]
rs73786300	1.00[ASN][1000 genomes]
rs73786301	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786302	1.00[ASN][1000 genomes]
rs73787405	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:60 , 50 per page) page: 1 2

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	chr5:126333400-126336200	Enhancers	Stomach Mucosa	stomach
4	chr5:126334200-126337400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:126334200-126342000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:126334400-126337000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:126334400-126337000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:126334400-126337200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:126334400-126337200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:126334400-126337200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:126334400-126337200	Weak transcription	NH-A	brain
12	chr5:126334400-126337400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:126334400-126337400	Weak transcription	Small Intestine	intestine
14	chr5:126334400-126337800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr5:126334400-126338400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:126334400-126338600	Weak transcription	Lung	lung
17	chr5:126334400-126339800	Weak transcription	Spleen	Spleen
18	chr5:126334400-126345400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:126334400-126363000	Weak transcription	Ovary	ovary
20	chr5:126334600-126337000	Weak transcription	HSMMtube	muscle
21	chr5:126334600-126337000	Weak transcription	HUVEC	blood vessel
22	chr5:126334600-126337200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:126334600-126337400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:126334600-126337400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:126334600-126337600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:126334600-126338400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:126334600-126339600	Weak transcription	Primary B cells from cord blood	blood
28	chr5:126334600-126351000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:126334800-126337000	Weak transcription	NHLF	lung
30	chr5:126334800-126337200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:126334800-126337800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:126335000-126337000	Weak transcription	NHDF-Ad	bronchial
33	chr5:126335000-126337000	Weak transcription	Osteobl	bone
34	chr5:126335000-126338200	Weak transcription	Adipose Nuclei	Adipose
35	chr5:126335200-126336600	Enhancers	K562	blood
36	chr5:126335200-126336800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:126335200-126337000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr5:126335200-126337200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:126335200-126337200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:126335200-126337600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:126335200-126339400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr5:126335200-126339600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr5:126335200-126340400	Weak transcription	Brain Angular Gyrus	brain
44	chr5:126335400-126336800	Weak transcription	Fetal Muscle Leg	muscle
45	chr5:126335400-126337000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr5:126335400-126337200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:126335400-126337200	Weak transcription	Pancreas	Pancrea
48	chr5:126335400-126337200	Weak transcription	Right Atrium	heart
49	chr5:126335400-126337200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr5:126335400-126337200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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