Variant report

Variant	rs2859
Chromosome Location	chr5:106712699-106712700
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:106707229..106709344-chr5:106711446..106714314,2	K562	blood:

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

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

rs_ID	r²[population]
rs17345424	0.89[EUR][1000 genomes]
rs17345521	0.95[EUR][1000 genomes]
rs17345752	0.97[EUR][1000 genomes]
rs17411832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66609347	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6882277	0.97[EUR][1000 genomes]
rs6884043	0.90[EUR][1000 genomes]
rs7706841	0.98[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:33 , 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	chr5:106706800-106712800	Weak transcription	HSMM	muscle
10	chr5:106707000-106716400	Weak transcription	Psoas Muscle	Psoas
11	chr5:106707000-106716800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:106707400-106712800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:106708800-106715800	Weak transcription	Fetal Stomach	stomach
14	chr5:106708800-106724800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:106709200-106714000	Weak transcription	HSMMtube	muscle
16	chr5:106709400-106714800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:106710000-106714800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:106710000-106714800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:106710400-106715200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:106711000-106712800	Weak transcription	GM12878-XiMat	blood
21	chr5:106711000-106714200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:106711200-106712800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:106711400-106723600	Weak transcription	Fetal Kidney	kidney
24	chr5:106711800-106712800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:106711800-106713000	Enhancers	Fetal Lung	lung
26	chr5:106712000-106713600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:106712200-106717000	Weak transcription	Fetal Heart	heart
28	chr5:106712400-106712800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:106712400-106713200	Enhancers	Brain Germinal Matrix	brain
30	chr5:106712400-106714000	Enhancers	A549	lung
31	chr5:106712400-106715000	Enhancers	HMEC	breast
32	chr5:106712600-106713000	Enhancers	NH-A	brain
33	chr5:106712600-106713200	Enhancers	Cortex derived primary cultured neurospheres	brain

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