Variant report

Variant	rs7230700
Chromosome Location	chr18:45550380-45550381
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45550225..45550796-chr18:45991125..45991872,2	MCF-7	breast:
2	chr18:45550138..45550732-chr18:45972435..45973220,2	MCF-7	breast:
3	chr18:45456255..45458455-chr18:45548371..45550446,2	MCF-7	breast:
4	chr18:45550183..45552921-chr18:45552993..45555401,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175387	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12605978	0.89[CHD][hapmap];0.85[JPT][hapmap]
rs34383319	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55766008	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57787629	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7231151	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73445982	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8088785	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8089512	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1066479	chr18:45505569-45554507	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1055669	chr18:45513090-45559375	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7230700	SIGLEC15	cis	cerebellum	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45547200-45555600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr18:45547400-45550600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr18:45547400-45551000	Enhancers	A549	lung
4	chr18:45547600-45550800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr18:45547800-45553200	Enhancers	Adipose Nuclei	Adipose
6	chr18:45548000-45553600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr18:45548000-45554000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr18:45548600-45553600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr18:45548800-45550400	Enhancers	Brain Anterior Caudate	brain
10	chr18:45548800-45550400	Enhancers	Brain Cingulate Gyrus	brain
11	chr18:45548800-45550400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr18:45548800-45550600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr18:45548800-45550600	Enhancers	Brain Substantia Nigra	brain
14	chr18:45548800-45550800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:45548800-45550800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr18:45548800-45550800	Enhancers	Brain Hippocampus Middle	brain
17	chr18:45548800-45551200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr18:45549000-45550600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr18:45549000-45550800	Enhancers	Ovary	ovary
20	chr18:45549000-45550800	Enhancers	HSMM	muscle
21	chr18:45549000-45551000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr18:45549000-45551000	Enhancers	Fetal Muscle Leg	muscle
23	chr18:45549000-45553400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr18:45549200-45551000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr18:45549200-45553800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr18:45549200-45554000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr18:45549200-45556000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr18:45549200-45557600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr18:45549400-45550400	Flanking Active TSS	NHEK	skin
30	chr18:45549400-45550600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr18:45549400-45550800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr18:45549400-45550800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr18:45549400-45551000	Enhancers	Fetal Muscle Trunk	muscle
34	chr18:45549600-45550400	Enhancers	Right Atrium	heart
35	chr18:45549600-45550600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:45549600-45550600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr18:45549600-45550600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr18:45549600-45550600	Enhancers	Osteobl	bone
39	chr18:45549600-45551400	Enhancers	Esophagus	oesophagus
40	chr18:45549600-45553200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr18:45549800-45550600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr18:45549800-45550600	Enhancers	Fetal Stomach	stomach
43	chr18:45549800-45550600	Enhancers	Fetal Thymus	thymus
44	chr18:45549800-45550600	Enhancers	NH-A	brain
45	chr18:45549800-45551000	Enhancers	Spleen	Spleen
46	chr18:45550000-45550400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr18:45550000-45550400	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr18:45550000-45550400	Enhancers	Fetal Intestine Large	intestine
49	chr18:45550000-45550400	Enhancers	Right Ventricle	heart
50	chr18:45550000-45550400	Enhancers	Stomach Mucosa	stomach

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