Variant report

Variant	rs865489
Chromosome Location	chr12:51207414-51207415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51206635..51209642-chr12:51213405..51216758,3	K562	blood:
2	chr12:51207076..51210339-chr12:51211809..51214905,4	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10735827	0.86[EUR][1000 genomes]
rs10747586	1.00[ASN][1000 genomes]
rs10747592	0.86[EUR][1000 genomes]
rs10783377	1.00[ASN][1000 genomes]
rs10783380	1.00[ASN][1000 genomes]
rs10783388	0.86[EUR][1000 genomes]
rs1109726	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11609941	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1561422	0.88[EUR][1000 genomes]
rs2250751	1.00[ASN][1000 genomes]
rs2250752	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2251024	1.00[ASN][1000 genomes]
rs2251603	1.00[ASN][1000 genomes]
rs2252589	1.00[ASN][1000 genomes]
rs2554862	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2684889	1.00[ASN][1000 genomes]
rs2684898	1.00[ASN][1000 genomes]
rs2684900	1.00[ASN][1000 genomes]
rs2684901	1.00[ASN][1000 genomes]
rs2700479	1.00[ASN][1000 genomes]
rs2700480	1.00[ASN][1000 genomes]
rs2700482	1.00[ASN][1000 genomes]
rs2700485	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2731434	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2731439	1.00[ASN][1000 genomes]
rs2731440	1.00[ASN][1000 genomes]
rs2731442	1.00[ASN][1000 genomes]
rs2731443	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4768862	0.85[EUR][1000 genomes]
rs57602501	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57729468	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580769	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66838741	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66947035	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67218241	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67356137	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67934435	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135837	1.00[ASN][1000 genomes]
rs7305655	1.00[ASN][1000 genomes]
rs7307788	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7487150	0.84[EUR][1000 genomes]
rs7958114	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7960015	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964642	0.86[EUR][1000 genomes]
rs7968440	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7976942	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977064	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977690	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7977742	0.85[AMR][1000 genomes]
rs7978559	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979165	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829114	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829115	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv976745	chr12:51203441-51215185	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs865489	CERS5	cis	Nerve Tibial	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51188600-51207800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:51190200-51215200	Weak transcription	Pancreas	Pancrea
3	chr12:51193200-51207600	Weak transcription	Fetal Heart	heart
4	chr12:51193200-51207800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:51193200-51207800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:51193200-51207800	Weak transcription	Esophagus	oesophagus
7	chr12:51193200-51208000	Weak transcription	Small Intestine	intestine
8	chr12:51193200-51211200	Weak transcription	Aorta	Aorta
9	chr12:51193400-51207800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:51194400-51207800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:51194600-51207800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:51194600-51214600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:51194800-51209200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:51198600-51215400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr12:51199600-51209400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:51200400-51209200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:51200600-51222200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:51201400-51213800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:51201600-51212400	Strong transcription	Fetal Lung	lung
20	chr12:51201600-51213200	Strong transcription	Fetal Muscle Leg	muscle
21	chr12:51201800-51212200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:51201800-51212200	Strong transcription	Fetal Intestine Large	intestine
23	chr12:51201800-51212400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:51201800-51213800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:51202000-51213000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:51202000-51213200	Strong transcription	Fetal Stomach	stomach
27	chr12:51202200-51213200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:51202200-51213200	Strong transcription	Fetal Intestine Small	intestine
29	chr12:51202200-51213800	Strong transcription	Fetal Thymus	thymus
30	chr12:51202200-51214200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:51202600-51213800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:51202600-51214400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr12:51202800-51208600	Strong transcription	Hela-S3	cervix
34	chr12:51202800-51213600	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr12:51202800-51214000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:51202800-51215000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:51203200-51212400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr12:51203200-51213400	Strong transcription	Primary B cells from cord blood	blood
39	chr12:51203200-51213800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr12:51203200-51213800	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr12:51203200-51213800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr12:51203200-51213800	Strong transcription	Adipose Nuclei	Adipose
43	chr12:51203200-51213800	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr12:51203200-51214000	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr12:51203200-51214000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr12:51203200-51214200	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:51203200-51214200	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:51203400-51208600	Strong transcription	K562	blood
49	chr12:51203400-51211000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:51203400-51213200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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