Variant report

Variant	rs10053294
Chromosome Location	chr5:106706957-106706958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10038224	1.00[EUR][1000 genomes]
rs10058412	1.00[EUR][1000 genomes]
rs10068257	1.00[EUR][1000 genomes]
rs10447247	0.90[ASN][1000 genomes]
rs11956462	1.00[EUR][1000 genomes]
rs11958371	1.00[EUR][1000 genomes]
rs17159819	1.00[EUR][1000 genomes]
rs17159895	1.00[EUR][1000 genomes]
rs17159926	1.00[EUR][1000 genomes]
rs17159963	1.00[EUR][1000 genomes]
rs17159972	1.00[EUR][1000 genomes]
rs17159988	1.00[EUR][1000 genomes]
rs2113035	1.00[EUR][1000 genomes]
rs28818231	0.81[ASN][1000 genomes]
rs6868291	1.00[EUR][1000 genomes]
rs7710322	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	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106700600-106720000	Weak transcription	Aorta	Aorta
2	chr5:106703400-106715800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:106704200-106716800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:106704400-106715800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:106704600-106708600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:106704600-106708800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:106704600-106709000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:106704600-106709400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:106704600-106713000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:106704600-106717000	Weak transcription	Fetal Brain Female	brain
11	chr5:106704600-106722800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:106704800-106708600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:106704800-106708600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:106704800-106708600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:106704800-106714800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:106705200-106709400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:106705400-106707000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:106705400-106708800	Weak transcription	Fetal Brain Male	brain
19	chr5:106705600-106712400	Weak transcription	Brain Germinal Matrix	brain
20	chr5:106705800-106707000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:106705800-106707200	Enhancers	NHEK	skin
22	chr5:106706000-106707000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:106706000-106707400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:106706000-106707400	Enhancers	HMEC	breast
25	chr5:106706200-106709400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr5:106706600-106707000	Enhancers	NHDF-Ad	bronchial
27	chr5:106706800-106707000	Enhancers	Psoas Muscle	Psoas
28	chr5:106706800-106708000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:106706800-106708600	Weak transcription	HSMMtube	muscle
30	chr5:106706800-106712800	Weak transcription	HSMM	muscle

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