Variant report

Variant	rs17140271
Chromosome Location	chr5:115989592-115989593
allele	A/G
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:
2	chr5:115985452..115987393-chr5:115988593..115990486,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17140261	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17140298	0.88[EUR][1000 genomes]
rs28441147	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55816914	0.88[EUR][1000 genomes]
rs58479811	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61501878	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259298	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73259299	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73261463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73261484	0.82[EUR][1000 genomes]
rs73783813	0.82[EUR][1000 genomes]
rs9327017	0.88[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	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:40 , 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	chr5:115987000-115989800	Enhancers	H9 Cell Line	embryonic stem cell
4	chr5:115987000-115991400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:115987200-115991200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:115987600-115989600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:115987600-115989600	Enhancers	Fetal Brain Female	brain
8	chr5:115987600-115996400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:115988200-115992400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:115988400-115990600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:115988400-115991000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:115988400-115991200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr5:115988400-115992000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:115988400-115993600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:115988600-115989800	Enhancers	HSMMtube	muscle
16	chr5:115988600-115992000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:115988600-115992000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:115988600-115993000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr5:115988800-115990800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:115988800-115991800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:115989000-115989600	Weak transcription	Fetal Muscle Leg	muscle
22	chr5:115989000-115989800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:115989000-115990000	Enhancers	Brain Anterior Caudate	brain
24	chr5:115989000-115990800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:115989000-115990800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr5:115989000-115992800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:115989000-115993400	Weak transcription	NHEK	skin
28	chr5:115989000-115993800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:115989000-115993800	Weak transcription	HMEC	breast
30	chr5:115989200-115989600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr5:115989200-115990200	Enhancers	Brain Cingulate Gyrus	brain
32	chr5:115989200-115990200	Enhancers	Brain Substantia Nigra	brain
33	chr5:115989200-115991000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:115989200-115991400	Enhancers	Brain Hippocampus Middle	brain
35	chr5:115989200-115991800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr5:115989200-115994000	Weak transcription	Fetal Lung	lung
37	chr5:115989400-115989600	Enhancers	Brain Angular Gyrus	brain
38	chr5:115989400-115990000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr5:115989400-115990400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:115989400-115996400	Weak transcription	Fetal Stomach	stomach

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