Variant report

Variant	rs2468503
Chromosome Location	chr5:36444227-36444228
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:36438693..36440826-chr5:36441335..36444284,3	K562	blood:
2	chr5:36416985..36419149-chr5:36442977..36445580,2	K562	blood:
3	chr5:36415500..36419149-chr5:36442914..36446558,5	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10061011	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2455277	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2455279	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2468502	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468504	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2468509	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2468536	0.86[AMR][1000 genomes];0.90[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	nsv517278	chr5:36430755-36445802	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv597817	chr5:36433782-36460075	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv597818	chr5:36440940-36460462	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36439200-36446600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:36439800-36446400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:36440000-36444600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr5:36440600-36445600	Enhancers	Stomach Mucosa	stomach
5	chr5:36440600-36445800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:36441600-36446600	Enhancers	Placenta	Placenta
7	chr5:36441800-36445400	Enhancers	HMEC	breast
8	chr5:36441800-36445600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:36441800-36446000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:36442200-36444600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:36442200-36444800	Weak transcription	Fetal Brain Female	brain
12	chr5:36442400-36445000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:36442400-36445400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:36442600-36445400	Enhancers	NH-A	brain
15	chr5:36442600-36445600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:36442800-36444400	Enhancers	Osteobl	bone
17	chr5:36442800-36445200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:36442800-36445200	Enhancers	NHDF-Ad	bronchial
19	chr5:36443000-36444400	Enhancers	NHEK	skin
20	chr5:36443200-36444400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:36443200-36444400	Weak transcription	NHLF	lung
22	chr5:36443200-36444600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:36443200-36445000	Enhancers	K562	blood
24	chr5:36443400-36445000	Enhancers	Brain Hippocampus Middle	brain
25	chr5:36443400-36445400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:36443600-36444400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:36443800-36444400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr5:36443800-36445400	Enhancers	HSMM	muscle
29	chr5:36443800-36445800	Enhancers	Esophagus	oesophagus
30	chr5:36443800-36445800	Enhancers	Pancreas	Pancrea
31	chr5:36443800-36446600	Enhancers	Brain Anterior Caudate	brain
32	chr5:36444000-36444400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr5:36444200-36444400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:36444200-36444400	Enhancers	Fetal Kidney	kidney
35	chr5:36444200-36444600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr5:36444200-36444800	Enhancers	Gastric	stomach
37	chr5:36444200-36445200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:36444200-36445200	Flanking Active TSS	Hela-S3	cervix
39	chr5:36444200-36445600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:36444200-36445600	Enhancers	Brain Cingulate Gyrus	brain
41	chr5:36444200-36445800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr5:36444200-36445800	Enhancers	Brain Substantia Nigra	brain
43	chr5:36444200-36446000	Enhancers	Adipose Nuclei	Adipose

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