Variant report

Variant	rs12189229
Chromosome Location	chr5:115988836-115988837
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115985452..115987393-chr5:115988593..115990486,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13185771	0.80[AMR][1000 genomes]
rs163809	0.82[JPT][hapmap]
rs6594974	0.84[ASN][1000 genomes]
rs6594975	0.84[ASN][1000 genomes]
rs7706720	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs978493	0.81[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	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:47 , 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	chr5:115985800-115989800	Enhancers	Fetal Brain Male	brain
3	chr5:115987000-115989000	Enhancers	Fetal Muscle Leg	muscle
4	chr5:115987000-115989400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:115987000-115989800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr5:115987000-115991400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:115987200-115991200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:115987400-115989200	Enhancers	Brain Germinal Matrix	brain
9	chr5:115987600-115989000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:115987600-115989000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr5:115987600-115989400	Enhancers	Fetal Stomach	stomach
12	chr5:115987600-115989600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:115987600-115989600	Enhancers	Fetal Brain Female	brain
14	chr5:115987600-115996400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:115987800-115989000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:115987800-115989000	Enhancers	HMEC	breast
17	chr5:115987800-115989400	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr5:115988000-115989000	Active TSS	Brain Anterior Caudate	brain
19	chr5:115988000-115989000	Enhancers	NHEK	skin
20	chr5:115988000-115989200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:115988000-115989400	Active TSS	Brain Angular Gyrus	brain
22	chr5:115988200-115989000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:115988200-115992400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:115988400-115989000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:115988400-115989200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr5:115988400-115989200	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr5:115988400-115990600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:115988400-115991000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:115988400-115991200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr5:115988400-115992000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr5:115988400-115993600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:115988600-115989000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr5:115988600-115989000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:115988600-115989000	Enhancers	GM12878-XiMat	blood
35	chr5:115988600-115989200	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr5:115988600-115989200	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr5:115988600-115989800	Enhancers	HSMMtube	muscle
38	chr5:115988600-115992000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr5:115988600-115992000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr5:115988600-115993000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr5:115988800-115989000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr5:115988800-115989200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr5:115988800-115989200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:115988800-115989200	Flanking Active TSS	Fetal Lung	lung
45	chr5:115988800-115989400	Enhancers	HepG2	liver
46	chr5:115988800-115990800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:115988800-115991800	Enhancers	HUES48 Cell Line	embryonic stem cell

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