Variant report

Variant	rs1026009
Chromosome Location	chr5:124257374-124257375
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11743963	0.92[ASN][1000 genomes]
rs12514161	0.81[EUR][1000 genomes]
rs12520547	0.82[EUR][1000 genomes]
rs13180906	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2408225	0.83[EUR][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	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

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124249400-124263200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:124251200-124259400	Enhancers	Dnd41	blood
3	chr5:124254000-124259800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:124254000-124260200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:124254200-124257600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr5:124254200-124259200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:124254200-124259200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:124254200-124259400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:124254200-124259400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:124254200-124259600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:124254200-124259600	Enhancers	Brain Substantia Nigra	brain
12	chr5:124254200-124259800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:124254200-124259800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:124254200-124259800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr5:124254200-124259800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:124254200-124259800	Enhancers	Brain Hippocampus Middle	brain
17	chr5:124254200-124260400	Enhancers	Brain Cingulate Gyrus	brain
18	chr5:124254400-124259400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:124254400-124259600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr5:124254600-124260200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr5:124255200-124258800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:124255200-124259600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr5:124255600-124259400	Enhancers	Fetal Brain Female	brain
24	chr5:124255800-124258000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:124256000-124258600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:124256200-124258000	Weak transcription	Fetal Stomach	stomach
27	chr5:124256200-124259600	Enhancers	Brain Angular Gyrus	brain
28	chr5:124256600-124257600	Weak transcription	Brain Germinal Matrix	brain
29	chr5:124256600-124257800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr5:124256800-124257400	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr5:124256800-124257800	Weak transcription	Brain Anterior Caudate	brain
32	chr5:124256800-124258000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:124256800-124258000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr5:124256800-124258200	Weak transcription	Stomach Mucosa	stomach
35	chr5:124257000-124258000	Weak transcription	Fetal Intestine Small	intestine
36	chr5:124257000-124258200	Enhancers	NHEK	skin
37	chr5:124257000-124258400	Weak transcription	Fetal Kidney	kidney
38	chr5:124257000-124259200	Enhancers	Fetal Brain Male	brain
39	chr5:124257200-124257400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr5:124257200-124257400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:124257200-124258800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr5:124257200-124259000	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr5:124257200-124259200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr5:124257200-124259200	Enhancers	Primary B cells from peripheral blood	blood
45	chr5:124257200-124259200	Flanking Active TSS	GM12878-XiMat	blood
46	chr5:124257200-124259600	Enhancers	Fetal Lung	lung
47	chr5:124257200-124260200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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