Variant report

Variant	rs4986228
Chromosome Location	chr18:44595259-44595260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16954921	0.82[TSI][hapmap]
rs16954999	0.82[TSI][hapmap]
rs2246877	0.87[CHB][hapmap]
rs2289036	0.81[CEU][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs2289133	0.89[TSI][hapmap]
rs2317324	0.84[CEU][hapmap]
rs2571005	0.84[CEU][hapmap]
rs2576052	0.84[CEU][hapmap]
rs2684833	0.84[CEU][hapmap]
rs4986227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8085634	0.84[CEU][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes]
rs9951617	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9953336	0.80[EUR][1000 genomes]
rs9962436	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv909609	chr18:44513071-44597092	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv909610	chr18:44549455-44602249	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv833640	chr18:44552276-44714872	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv909611	chr18:44560875-44614090	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv909612	chr18:44560875-44681485	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1057235	chr18:44564162-44595809	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1067278	chr18:44564162-44629283	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4986228	IER3IP1	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44579800-44630200	Weak transcription	Right Ventricle	heart
2	chr18:44580600-44595400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr18:44585200-44600000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:44586800-44629600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr18:44587200-44630600	Weak transcription	Brain Anterior Caudate	brain
6	chr18:44587600-44629400	Weak transcription	Liver	Liver
7	chr18:44587800-44603400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr18:44588200-44621600	Weak transcription	Left Ventricle	heart
9	chr18:44591000-44595400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr18:44591800-44602800	Weak transcription	Brain Angular Gyrus	brain
11	chr18:44594200-44603800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr18:44594400-44601600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr18:44594400-44603200	Weak transcription	Brain Substantia Nigra	brain
14	chr18:44594600-44602800	Weak transcription	Adipose Nuclei	Adipose
15	chr18:44594800-44595400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr18:44595000-44596000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr18:44595200-44595800	Enhancers	HUES48 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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