Variant report

Variant	rs11082489
Chromosome Location	chr18:43405070-43405071
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	chr18:43396081..43398317-chr18:43403286..43405202,2	MCF-7	breast:
2	chr18:43403061..43406137-chr18:43407212..43410972,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197046	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11082478	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs11082490	0.84[CHD][hapmap];0.87[MEX][hapmap]
rs12458195	0.83[MEX][hapmap]
rs507653	0.83[MEX][hapmap]
rs571690	1.00[MEX][hapmap]
rs8085782	0.96[MEX][hapmap]
rs9963719	0.95[CHB][hapmap];0.90[JPT][hapmap]

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	nsv525268	chr18:42748365-43474795	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11082489	KIAA1632	cis	cerebellum	SCAN
rs11082489	SLC14A1	cis	cerebellum	SCAN
rs11082489	KIAA1632	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43387200-43405200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr18:43387600-43407400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:43394800-43406800	Weak transcription	NHLF	lung
4	chr18:43397800-43405200	Weak transcription	Thymus	Thymus
5	chr18:43397800-43408200	Weak transcription	Aorta	Aorta
6	chr18:43400400-43406000	Weak transcription	NHDF-Ad	bronchial
7	chr18:43400600-43407400	Weak transcription	Gastric	stomach
8	chr18:43400600-43408000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr18:43400800-43405200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr18:43401000-43405200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr18:43402600-43405600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr18:43403600-43405200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr18:43403800-43405200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr18:43404400-43408000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr18:43404600-43406000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr18:43404600-43406400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr18:43404600-43407400	Enhancers	GM12878-XiMat	blood
18	chr18:43404800-43405400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr18:43404800-43406200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr18:43404800-43406600	Enhancers	Fetal Thymus	thymus
21	chr18:43404800-43406800	Enhancers	Spleen	Spleen
22	chr18:43404800-43409200	Enhancers	Stomach Mucosa	stomach
23	chr18:43404800-43409600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr18:43404800-43410400	Enhancers	Primary hematopoietic stem cells	blood
25	chr18:43404800-43410600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr18:43405000-43407400	Weak transcription	Brain Anterior Caudate	brain
27	chr18:43405000-43407400	Weak transcription	Brain Inferior Temporal Lobe	brain

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