Variant report

Variant	rs7707446
Chromosome Location	chr5:115990628-115990629
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115989581..115991463-chr5:115991838..115994118,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1353046	0.83[AMR][1000 genomes]
rs1389163	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1389164	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1493118	0.85[AMR][1000 genomes]
rs1845177	0.85[AMR][1000 genomes]
rs1908006	0.81[AMR][1000 genomes]
rs1948429	0.86[AMR][1000 genomes]
rs4920922	0.81[AMR][1000 genomes]
rs7716445	0.86[AMR][1000 genomes]
rs7734305	0.81[AMR][1000 genomes]
rs7737465	0.83[AMR][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	esv2763490	chr5:115918339-116138525	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830456	chr5:115969066-116170718	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv527974	chr5:115987168-116303678	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr5:115985600-115991600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:115987000-115991400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:115987200-115991200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:115987600-115996400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:115988200-115992400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:115988400-115991000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:115988400-115991200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr5:115988400-115992000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:115988400-115993600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:115988600-115992000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:115988600-115992000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:115988600-115993000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:115988800-115990800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:115988800-115991800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:115989000-115990800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:115989000-115990800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:115989000-115992800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:115989000-115993400	Weak transcription	NHEK	skin
19	chr5:115989000-115993800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:115989000-115993800	Weak transcription	HMEC	breast
21	chr5:115989200-115991000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:115989200-115991400	Enhancers	Brain Hippocampus Middle	brain
23	chr5:115989200-115991800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr5:115989200-115994000	Weak transcription	Fetal Lung	lung
25	chr5:115989400-115996400	Weak transcription	Fetal Stomach	stomach
26	chr5:115989800-115992400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr5:115990400-115991600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:115990600-115991400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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