Variant report

Variant	rs57509071
Chromosome Location	chr5:167780435-167780436
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:167779528..167782298-chr5:167789585..167792787,3	MCF-7	breast:
2	chr5:167777796..167780778-chr5:167879830..167882234,2	MCF-7	breast:
3	chr5:167717332..167720143-chr5:167780200..167783494,3	MCF-7	breast:
4	chr5:167772226..167775792-chr5:167776629..167780677,4	MCF-7	breast:
5	chr5:167742960..167744048-chr5:167779833..167780829,19	MCF-7	breast:
6	chr5:167723897..167724407-chr5:167779844..167780519,3	MCF-7	breast:
7	chr5:167743048..167744078-chr5:167779882..167780870,8	MCF-7	breast:
8	chr5:167743069..167744033-chr5:167779833..167780829,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000113645	Chromatin interaction

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

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]
rs10052800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10064050	1.00[AMR][1000 genomes]
rs10065566	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10072769	1.00[AMR][1000 genomes]
rs57038345	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:6 , 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
6	nsv823340	chr5:167775824-167782091	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167762200-167791800	Weak transcription	Hela-S3	cervix
2	chr5:167766800-167783200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:167774400-167781600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:167775200-167783000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:167775600-167783800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:167776000-167780600	Weak transcription	Placenta	Placenta
7	chr5:167776800-167783200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:167777600-167781600	Weak transcription	HepG2	liver
9	chr5:167779000-167783600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:167779200-167783400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:167779200-167783800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:167779200-167785000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:167779800-167780800	Enhancers	Esophagus	oesophagus
14	chr5:167779800-167780800	Enhancers	Pancreas	Pancrea
15	chr5:167780000-167780800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:167780000-167780800	Enhancers	Gastric	stomach
17	chr5:167780000-167780800	Transcr. at gene 5' and 3'	A549	lung
18	chr5:167780000-167781000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr5:167780000-167781800	Enhancers	Liver	Liver
20	chr5:167780000-167783200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr5:167780200-167780600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:167780200-167780800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:167780200-167780800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:167780200-167780800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:167780200-167780800	Enhancers	Brain Angular Gyrus	brain
26	chr5:167780200-167780800	Enhancers	Brain Anterior Caudate	brain
27	chr5:167780200-167780800	Strong transcription	Fetal Intestine Small	intestine
28	chr5:167780200-167780800	Enhancers	Lung	lung
29	chr5:167780200-167780800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr5:167780200-167780800	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr5:167780200-167780800	Enhancers	HMEC	breast
32	chr5:167780200-167781000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:167780200-167781000	Enhancers	Brain Substantia Nigra	brain
34	chr5:167780200-167781000	Enhancers	Stomach Mucosa	stomach
35	chr5:167780200-167781200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:167780200-167781400	Enhancers	NHEK	skin
37	chr5:167780200-167782000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:167780400-167780600	Enhancers	Fetal Lung	lung
39	chr5:167780400-167780800	Enhancers	Brain Hippocampus Middle	brain
40	chr5:167780400-167780800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr5:167780400-167781000	Enhancers	Brain Cingulate Gyrus	brain
42	chr5:167780400-167781800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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