Variant report

Variant	rs10223088
Chromosome Location	chr5:124341520-124341521
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10037351	1.00[EUR][1000 genomes]
rs10039152	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10051515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10051816	0.83[EUR][1000 genomes]
rs10051865	0.83[EUR][1000 genomes]
rs10056903	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10059820	0.83[EUR][1000 genomes]
rs10061638	0.83[EUR][1000 genomes]
rs10076719	0.83[EUR][1000 genomes]
rs10076822	0.83[EUR][1000 genomes]
rs10478646	1.00[EUR][1000 genomes]
rs28379635	0.83[EUR][1000 genomes]
rs28442881	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28469490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56878962	0.83[EUR][1000 genomes]
rs60081045	0.83[EUR][1000 genomes]
rs60582094	0.83[EUR][1000 genomes]
rs6862844	0.83[EUR][1000 genomes]
rs6862998	0.83[EUR][1000 genomes]
rs6867051	0.83[EUR][1000 genomes]
rs6867249	0.83[EUR][1000 genomes]
rs6870217	0.83[EUR][1000 genomes]
rs6874077	0.83[EUR][1000 genomes]
rs6874416	0.83[EUR][1000 genomes]
rs6875818	0.83[EUR][1000 genomes]
rs6891699	0.83[EUR][1000 genomes]
rs73306728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306768	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73308739	0.83[EUR][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	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124323400-124348600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:124326600-124342000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:124336400-124341800	Enhancers	Dnd41	blood
4	chr5:124336800-124343000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:124337000-124343000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:124337000-124343000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:124337200-124341800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:124337200-124342000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:124337400-124341800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:124337600-124342600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr5:124337800-124342600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:124337800-124342800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:124338000-124343000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:124338400-124343000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:124338400-124343000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:124338800-124342800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:124339600-124342200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr5:124340000-124341800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:124340200-124342400	Enhancers	Brain Germinal Matrix	brain
20	chr5:124340200-124343000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr5:124340400-124343000	Enhancers	Fetal Brain Male	brain
22	chr5:124340400-124343600	Enhancers	Primary B cells from peripheral blood	blood
23	chr5:124340600-124342200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:124340600-124342600	Enhancers	Fetal Lung	lung
25	chr5:124340600-124343000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:124340800-124341800	Weak transcription	Fetal Stomach	stomach
27	chr5:124340800-124342400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr5:124340800-124342800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:124341000-124341600	Enhancers	Brain Angular Gyrus	brain
30	chr5:124341000-124341600	Enhancers	GM12878-XiMat	blood
31	chr5:124341000-124342000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr5:124341000-124342000	Enhancers	Brain Substantia Nigra	brain
33	chr5:124341000-124342400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr5:124341000-124342400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:124341200-124341600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:124341200-124342000	Enhancers	Primary B cells from cord blood	blood
37	chr5:124341200-124342200	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr5:124341200-124342400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr5:124341400-124341600	Enhancers	Adipose Nuclei	Adipose
40	chr5:124341400-124341800	Weak transcription	Brain Anterior Caudate	brain
41	chr5:124341400-124342000	Weak transcription	Fetal Intestine Large	intestine
42	chr5:124341400-124342000	Enhancers	Fetal Kidney	kidney
43	chr5:124341400-124342200	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr5:124341400-124342400	Enhancers	Fetal Brain Female	brain
45	chr5:124341400-124343000	Enhancers	Primary hematopoietic stem cells	blood

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