Variant report

Variant	rs3844311
Chromosome Location	chr5:106925966-106925967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10045552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10061771	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10479400	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10479401	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12153493	0.81[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12654557	0.95[ASN][1000 genomes]
rs12719573	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17348530	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1990993	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2005103	1.00[CHB][hapmap]
rs2406374	0.91[ASN][1000 genomes]
rs34052514	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34273069	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34644687	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34950197	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3864269	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4145099	0.84[CEU][hapmap]
rs4957704	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs597083	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62355632	0.91[ASN][1000 genomes]
rs62355633	0.91[ASN][1000 genomes]
rs6894162	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872240	1.00[CHB][hapmap]

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	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
2	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
3	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106913600-106928800	Weak transcription	Right Ventricle	heart
2	chr5:106914800-106928200	Weak transcription	Left Ventricle	heart
3	chr5:106915200-106929800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:106915600-106928200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:106917000-106929200	Weak transcription	HMEC	breast
6	chr5:106917400-106928000	Weak transcription	HSMMtube	muscle
7	chr5:106917600-106928200	Weak transcription	A549	lung
8	chr5:106917800-106928600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:106919800-106928200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:106920800-106928400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:106923600-106926400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:106923600-106926400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:106924000-106926000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr5:106924000-106926000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:106924000-106926800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr5:106924000-106928000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:106924200-106926000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:106924800-106928400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:106925000-106928200	Weak transcription	Fetal Muscle Leg	muscle
20	chr5:106925000-106928600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:106925200-106926000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr5:106925400-106926000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:106925400-106926000	Enhancers	Fetal Stomach	stomach
24	chr5:106925600-106926000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr5:106925600-106926000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr5:106925600-106926000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr5:106925600-106926200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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