Variant report

Variant	rs4245251
Chromosome Location	chr18:45588334-45588335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12605978	0.83[CEU][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs4245250	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7230700	0.90[JPT][hapmap]
rs9959819	0.94[EUR][1000 genomes];0.92[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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4245251	SIGLEC15	cis	cerebellum	SCAN
rs4245251	SMAD2	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45573800-45596400	Weak transcription	Aorta	Aorta
2	chr18:45577000-45601800	Weak transcription	Gastric	stomach
3	chr18:45577200-45595200	Weak transcription	Lung	lung
4	chr18:45585200-45589800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr18:45585400-45589400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr18:45585800-45588800	Weak transcription	HMEC	breast
7	chr18:45586000-45592400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:45586400-45589000	Enhancers	Fetal Intestine Large	intestine
9	chr18:45586400-45589200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr18:45586400-45591400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr18:45586600-45599600	Weak transcription	Stomach Mucosa	stomach
12	chr18:45586800-45588400	Enhancers	HepG2	liver
13	chr18:45587000-45588800	Enhancers	Fetal Intestine Small	intestine
14	chr18:45587000-45589200	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr18:45587000-45589600	Weak transcription	Fetal Muscle Leg	muscle
16	chr18:45587000-45591200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr18:45587000-45591800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr18:45587200-45591200	Weak transcription	Fetal Lung	lung
19	chr18:45587200-45591200	Weak transcription	Fetal Stomach	stomach
20	chr18:45587400-45591200	Weak transcription	Placenta	Placenta
21	chr18:45587400-45611200	Weak transcription	Colonic Mucosa	Colon
22	chr18:45587600-45591400	Weak transcription	Fetal Brain Male	brain
23	chr18:45587800-45591200	Weak transcription	Fetal Kidney	kidney
24	chr18:45588000-45590000	Enhancers	Esophagus	oesophagus
25	chr18:45588000-45595800	Weak transcription	Spleen	Spleen
26	chr18:45588000-45610400	Weak transcription	Rectal Mucosa Donor 29	rectum

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