Variant report

Variant	rs920388
Chromosome Location	chr5:124571704-124571705
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11241798	0.96[ASN][1000 genomes]
rs11954918	0.90[ASN][1000 genomes]
rs11956263	0.98[ASN][1000 genomes]
rs1371382	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1562126	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17152551	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59115551	0.93[ASN][1000 genomes]
rs59456631	0.93[ASN][1000 genomes]
rs60808478	0.88[ASN][1000 genomes]
rs62373298	0.94[ASN][1000 genomes]
rs62373302	0.95[ASN][1000 genomes]
rs6880511	0.93[ASN][1000 genomes]
rs6890859	1.00[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	nsv882823	chr5:124569471-124639468	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124546600-124585200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:124561400-124572600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:124568600-124573400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:124569600-124572400	Weak transcription	Brain Substantia Nigra	brain
5	chr5:124569800-124571800	Weak transcription	Left Ventricle	heart
6	chr5:124569800-124572600	Weak transcription	Brain Angular Gyrus	brain
7	chr5:124570000-124571800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:124570000-124571800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:124570000-124572000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:124570000-124572400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:124571200-124573200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:124571200-124573400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:124571200-124573600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:124571200-124573600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:124571400-124573000	Enhancers	Fetal Heart	heart
16	chr5:124571400-124573400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:124571400-124573400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:124571400-124573600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:124571600-124572600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr5:124571600-124572800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:124571600-124573000	Enhancers	Fetal Brain Male	brain
22	chr5:124571600-124573200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:124571600-124573200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr5:124571600-124573200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:124571600-124573200	Enhancers	Brain Anterior Caudate	brain
26	chr5:124571600-124573200	Enhancers	Fetal Brain Female	brain

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