Variant report

Variant	rs10519429
Chromosome Location	chr5:115138580-115138581
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	chr5:115137373..115139519-chr5:115171027..115172668,2	K562	blood:
2	chr5:115138361..115140649-chr5:115148381..115150664,2	K562	blood:

Variant related genes	Relation type
ENSG00000129596	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10036657	1.00[EUR][1000 genomes]
rs10052079	1.00[EUR][1000 genomes]
rs10054972	1.00[EUR][1000 genomes]
rs10058994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10059199	0.89[LWK][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10067222	1.00[EUR][1000 genomes]
rs10070325	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10074061	1.00[EUR][1000 genomes]
rs10074066	1.00[EUR][1000 genomes]
rs10075816	1.00[EUR][1000 genomes]
rs10478261	1.00[MEX][hapmap]
rs10478262	1.00[EUR][1000 genomes]
rs10519428	1.00[EUR][1000 genomes]
rs11241338	1.00[MEX][hapmap]
rs11951965	0.88[AMR][1000 genomes]
rs11958544	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs11959669	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12782	1.00[MEX][hapmap];0.88[AMR][1000 genomes]
rs17138236	1.00[EUR][1000 genomes]
rs1968365	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28420368	1.00[EUR][1000 genomes]
rs4920893	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4920894	1.00[MEX][hapmap];0.88[AMR][1000 genomes]
rs4921029	1.00[EUR][1000 genomes]
rs4921030	1.00[EUR][1000 genomes]
rs60326315	0.88[AMR][1000 genomes]
rs6861998	1.00[EUR][1000 genomes]
rs6872587	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6875708	1.00[EUR][1000 genomes]
rs73257802	1.00[EUR][1000 genomes]
rs73259615	0.88[AMR][1000 genomes]
rs73265480	1.00[EUR][1000 genomes]
rs73265491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73265501	0.88[AMR][1000 genomes]
rs73780683	1.00[EUR][1000 genomes]
rs9326975	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9654524	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv949677	chr5:115104829-115496168	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115131400-115149200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:115133000-115138600	Enhancers	Liver	Liver
3	chr5:115134200-115149600	Weak transcription	Ovary	ovary
4	chr5:115134400-115146200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:115134400-115147000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:115134600-115140800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:115135200-115138600	Weak transcription	Adipose Nuclei	Adipose
8	chr5:115135400-115138800	Weak transcription	Brain Germinal Matrix	brain
9	chr5:115136600-115140400	Weak transcription	Fetal Lung	lung
10	chr5:115136800-115144200	Weak transcription	Fetal Brain Male	brain
11	chr5:115137000-115142200	Weak transcription	HepG2	liver
12	chr5:115137200-115142000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr5:115137400-115139800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:115137600-115139400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:115137600-115143800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr5:115137800-115140200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:115137800-115147200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:115138000-115143800	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:115138000-115147800	Weak transcription	Fetal Stomach	stomach
20	chr5:115138200-115145000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:115138200-115146200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:115138200-115149200	Weak transcription	Aorta	Aorta
23	chr5:115138200-115149800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr5:115138400-115139400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:115138400-115139600	Weak transcription	Placenta	Placenta
26	chr5:115138400-115140600	Weak transcription	Fetal Brain Female	brain
27	chr5:115138400-115149800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:115138400-115150800	Weak transcription	Brain Substantia Nigra	brain
29	chr5:115138400-115151000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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