Variant report

Variant	rs2804920
Chromosome Location	chr6:13585282-13585283
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13584952..13586852-chr6:13613634..13615316,2	K562	blood:
2	chr6:13485825..13488194-chr6:13582930..13585953,3	K562	blood:
3	chr6:13573811..13577599-chr6:13582641..13586987,4	K562	blood:

Variant related genes	Relation type
ENSG00000124523	Chromatin interaction
ENSG00000237786	Chromatin interaction
ENSG00000145990	Chromatin interaction
ENSG00000187461	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11753306	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2328676	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2804910	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2804911	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2804914	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2804916	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2804917	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2804919	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2804922	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2804924	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2804925	0.94[ASN][1000 genomes]
rs2804926	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2804927	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2841505	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2841506	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2841507	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2841508	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2841509	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2841511	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4712037	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2804920	SIRT5	cis	Thyroid	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13575600-13586800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:13575600-13586800	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:13575600-13586800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr6:13575600-13587000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:13575600-13587000	Weak transcription	Colonic Mucosa	Colon
6	chr6:13575600-13587000	Weak transcription	Esophagus	oesophagus
7	chr6:13575600-13587000	Weak transcription	NHLF	lung
8	chr6:13575600-13587200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:13575600-13587200	Weak transcription	Gastric	stomach
10	chr6:13575600-13587200	Weak transcription	Pancreas	Pancrea
11	chr6:13575600-13587600	Weak transcription	NHDF-Ad	bronchial
12	chr6:13575600-13587800	Weak transcription	Fetal Lung	lung
13	chr6:13575600-13588200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:13575600-13588400	Weak transcription	Fetal Brain Male	brain
15	chr6:13575600-13608200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:13575600-13613800	Weak transcription	Stomach Mucosa	stomach
17	chr6:13575600-13614400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:13575800-13586800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr6:13575800-13587000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:13575800-13587000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:13575800-13587000	Weak transcription	Fetal Brain Female	brain
22	chr6:13575800-13587200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:13575800-13587200	Weak transcription	HSMMtube	muscle
24	chr6:13575800-13597000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr6:13575800-13600000	Weak transcription	A549	lung
26	chr6:13575800-13614200	Weak transcription	HUVEC	blood vessel
27	chr6:13575800-13614600	Weak transcription	Right Atrium	heart
28	chr6:13576200-13586800	Weak transcription	Brain Germinal Matrix	brain
29	chr6:13576200-13587000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr6:13576200-13587400	Weak transcription	NHEK	skin
31	chr6:13576200-13587800	Weak transcription	Small Intestine	intestine
32	chr6:13576200-13588000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr6:13576200-13590800	Weak transcription	Dnd41	blood
34	chr6:13576200-13596600	Weak transcription	HMEC	breast
35	chr6:13576200-13614400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr6:13576400-13587000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr6:13576400-13587000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr6:13576400-13587800	Weak transcription	Fetal Kidney	kidney
39	chr6:13576400-13588000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr6:13576400-13595400	Weak transcription	GM12878-XiMat	blood
41	chr6:13576600-13587800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr6:13577400-13586800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr6:13578600-13587000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:13578600-13601200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr6:13578800-13587200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:13579600-13587800	Weak transcription	Fetal Heart	heart
47	chr6:13580400-13587200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:13580400-13614800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:13580600-13587000	Weak transcription	HepG2	liver
50	chr6:13580600-13588400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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