Variant report

Variant	rs10052800
Chromosome Location	chr5:167783274-167783275
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:167717332..167720143-chr5:167780200..167783494,3	MCF-7	breast:
2	chr5:167774477..167779814-chr5:167781404..167787238,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113645	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10050875	1.00[AMR][1000 genomes]
rs10051004	1.00[AMR][1000 genomes]
rs10064050	1.00[AMR][1000 genomes]
rs10065566	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10072769	0.81[LWK][hapmap];1.00[AMR][1000 genomes]
rs57038345	1.00[AMR][1000 genomes]
rs57509071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60286732	1.00[AMR][1000 genomes]
rs73383505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534607	chr5:167661667-168454396	Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv949154	chr5:167691208-168323234	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1023985	chr5:167756193-168285807	Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv537941	chr5:167756193-168285807	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv3444818	chr5:167770667-167902204	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10052800	MIR650	trans	lymphoblastoid	seeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167762200-167791800	Weak transcription	Hela-S3	cervix
2	chr5:167775600-167783800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr5:167779000-167783600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:167779200-167783400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:167779200-167783800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:167779200-167785000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:167780800-167783800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:167780800-167783800	Weak transcription	Brain Angular Gyrus	brain
9	chr5:167780800-167783800	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:167780800-167784400	Weak transcription	Brain Anterior Caudate	brain
11	chr5:167780800-167784400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:167780800-167785000	Weak transcription	Esophagus	oesophagus
13	chr5:167780800-167786000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:167780800-167786000	Weak transcription	HMEC	breast
15	chr5:167780800-167790800	Weak transcription	Gastric	stomach
16	chr5:167781000-167783600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:167781000-167783600	Weak transcription	Brain Substantia Nigra	brain
18	chr5:167781400-167785800	Weak transcription	NHEK	skin
19	chr5:167781800-167784400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:167781800-167787200	Weak transcription	Liver	Liver
21	chr5:167782000-167785400	Weak transcription	Placenta	Placenta
22	chr5:167782000-167786200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:167782600-167783400	Enhancers	Pancreas	Pancrea
24	chr5:167783000-167783600	Enhancers	Lung	lung
25	chr5:167783000-167783800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:167783000-167783800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr5:167783000-167785400	Enhancers	Fetal Brain Female	brain
28	chr5:167783200-167783800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:167783200-167784400	Enhancers	A549	lung
30	chr5:167783200-167784600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:167783200-167784600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr5:167783200-167785200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:167783200-167785200	Enhancers	Brain Cingulate Gyrus	brain
34	chr5:167783200-167785600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:167783200-167785800	Enhancers	Fetal Brain Male	brain
36	chr5:167783200-167785800	Strong transcription	Fetal Intestine Small	intestine

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