Variant report

Variant	rs3815357
Chromosome Location	chr17:66578223-66578224
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	chr17:66576950..66578591-chr17:66586418..66589362,2	MCF-7	breast:
2	chr17:66571720..66573973-chr17:66576760..66578500,2	K562	blood:

Variant related genes	Relation type
ENSG00000267659	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17702693	0.87[CHB][hapmap]
rs56378596	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62087515	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs986099	0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833524	chr17:66524030-66705194	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3815357	AMZ2	cis	cerebellum	SCAN
rs3815357	AMZ2	cis	parietal	SCAN
rs3815357	ICAM2	cis	parietal	SCAN
rs3815357	ABCA6	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66539200-66588000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr17:66551800-66587800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr17:66552000-66584200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr17:66552000-66585200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr17:66572000-66578400	Enhancers	NHDF-Ad	bronchial
6	chr17:66572200-66591800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:66572600-66581200	Weak transcription	Gastric	stomach
8	chr17:66572800-66582800	Weak transcription	Brain Angular Gyrus	brain
9	chr17:66575800-66579400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr17:66576000-66578400	Weak transcription	Pancreas	Pancrea
11	chr17:66576200-66581800	Weak transcription	Lung	lung
12	chr17:66576200-66581800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr17:66576400-66581000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:66576600-66579600	Enhancers	HepG2	liver
15	chr17:66576600-66580800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr17:66576800-66581200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:66576800-66588000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr17:66577000-66580800	Weak transcription	Fetal Kidney	kidney
19	chr17:66577000-66581200	Weak transcription	Esophagus	oesophagus
20	chr17:66577200-66579600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:66577200-66581000	Weak transcription	Ovary	ovary
22	chr17:66577200-66584600	Weak transcription	Fetal Thymus	thymus
23	chr17:66577200-66592600	Weak transcription	Right Ventricle	heart
24	chr17:66577400-66578400	Weak transcription	Fetal Lung	lung
25	chr17:66577400-66578600	Weak transcription	Spleen	Spleen
26	chr17:66577400-66579000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr17:66577400-66580800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr17:66577400-66581800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr17:66577600-66581000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr17:66577800-66578400	Enhancers	Adipose Nuclei	Adipose
31	chr17:66578000-66578400	Genic enhancers	Osteobl	bone
32	chr17:66578000-66578800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr17:66578000-66579000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr17:66578000-66579000	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr17:66578000-66580800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr17:66578200-66578600	Enhancers	Placenta	Placenta
37	chr17:66578200-66580400	Genic enhancers	Liver	Liver
38	chr17:66578200-66584800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr17:66578200-66594000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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