Variant report

Variant	rs7583638
Chromosome Location	chr2:100285379-100285380
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100279081..100281750-chr2:100284821..100286807,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs55989048	0.81[EUR][1000 genomes]
rs62154537	0.82[EUR][1000 genomes]
rs6712722	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6719965	0.96[AFR][1000 genomes]
rs6728983	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6749222	0.81[EUR][1000 genomes]
rs6761895	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7583638	LONRF2	cis	cerebellum	SCAN
rs7583638	IL18R1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100253200-100308800	Weak transcription	Gastric	stomach
2	chr2:100255400-100285400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:100255400-100285400	Weak transcription	Dnd41	blood
4	chr2:100257600-100308600	Weak transcription	Thymus	Thymus
5	chr2:100264000-100328600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:100268400-100287800	Strong transcription	Primary B cells from cord blood	blood
7	chr2:100269200-100288800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:100274200-100297400	Weak transcription	Liver	Liver
9	chr2:100275800-100291000	Weak transcription	Lung	lung
10	chr2:100276400-100302000	Weak transcription	Left Ventricle	heart
11	chr2:100276600-100295800	Weak transcription	Right Atrium	heart
12	chr2:100277800-100286400	Weak transcription	Pancreas	Pancrea
13	chr2:100278000-100285400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:100279400-100295000	Weak transcription	Fetal Brain Male	brain
15	chr2:100280600-100287200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:100280800-100287400	Weak transcription	Adipose Nuclei	Adipose
17	chr2:100282600-100308600	Weak transcription	Ovary	ovary
18	chr2:100282800-100285400	Weak transcription	Primary T cells from cord blood	blood
19	chr2:100282800-100291400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:100284600-100285800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:100284600-100286000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:100285200-100285400	Active TSS	Fetal Heart	heart
23	chr2:100285200-100285400	Weak transcription	Fetal Lung	lung
24	chr2:100285200-100286000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:100285200-100286000	ZNF genes & repeats	Fetal Brain Female	brain
26	chr2:100285200-100287800	Strong transcription	Primary B cells from peripheral blood	blood

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