Variant report

Variant	rs73194950
Chromosome Location	chr5:106710508-106710509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10079447	1.00[EUR][1000 genomes]
rs13360970	1.00[EUR][1000 genomes]
rs56001301	1.00[EUR][1000 genomes]
rs73194948	1.00[EUR][1000 genomes]
rs73777839	1.00[EUR][1000 genomes]
rs73777845	1.00[EUR][1000 genomes]
rs73777846	1.00[EUR][1000 genomes]
rs9328000	0.81[AMR][1000 genomes];1.00[EUR][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:28 , 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	chr5:106704600-106713000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:106704600-106717000	Weak transcription	Fetal Brain Female	brain
7	chr5:106704600-106722800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:106704800-106714800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:106705600-106712400	Weak transcription	Brain Germinal Matrix	brain
10	chr5:106706800-106712800	Weak transcription	HSMM	muscle
11	chr5:106707000-106716400	Weak transcription	Psoas Muscle	Psoas
12	chr5:106707000-106716800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:106707400-106712400	Weak transcription	HMEC	breast
14	chr5:106707400-106712800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:106707600-106712600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:106708600-106711200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:106708800-106715800	Weak transcription	Fetal Stomach	stomach
18	chr5:106708800-106724800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:106709000-106711000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:106709200-106714000	Weak transcription	HSMMtube	muscle
21	chr5:106709400-106711000	Enhancers	GM12878-XiMat	blood
22	chr5:106709400-106714800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:106709800-106711000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:106710000-106712200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:106710000-106714800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr5:106710000-106714800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:106710400-106710800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:106710400-106715200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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