Variant report

Variant	rs12326162
Chromosome Location	chr18:43409682-43409683
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	chr18:43403061..43406137-chr18:43407212..43410972,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197046	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11663670	0.87[ASW][hapmap]
rs1440822	0.81[CEU][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2282614	0.93[ASW][hapmap]
rs476024	0.83[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs477397	0.95[CHD][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap]
rs515373	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7229693	0.95[JPT][hapmap]
rs894048	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs894050	0.85[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.91[EUR][1000 genomes];0.86[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	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12326162	SLC14A1	cis	parietal	SCAN
rs12326162	KIAA1632	cis	parietal	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43404800-43410400	Enhancers	Primary hematopoietic stem cells	blood
2	chr18:43404800-43410600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:43405200-43410400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr18:43405800-43410400	Enhancers	Fetal Intestine Large	intestine
5	chr18:43406000-43410400	Enhancers	Placenta	Placenta
6	chr18:43406200-43410400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr18:43406400-43409800	Enhancers	Primary B cells from cord blood	blood
8	chr18:43406800-43409800	Enhancers	NHLF	lung
9	chr18:43406800-43410200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr18:43407000-43409800	Enhancers	Fetal Thymus	thymus
11	chr18:43407000-43410200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr18:43407200-43409800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr18:43407200-43410000	Enhancers	Spleen	Spleen
14	chr18:43407200-43410000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr18:43407400-43409800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr18:43407400-43409800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr18:43407400-43409800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr18:43407400-43409800	Enhancers	Gastric	stomach
19	chr18:43407400-43409800	Enhancers	Lung	lung
20	chr18:43407400-43409800	Enhancers	HMEC	breast
21	chr18:43407400-43410400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr18:43407400-43410400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr18:43407400-43410400	Enhancers	Fetal Kidney	kidney
24	chr18:43407600-43409800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr18:43407600-43409800	Enhancers	Fetal Heart	heart
26	chr18:43408000-43409800	Enhancers	Pancreas	Pancrea
27	chr18:43408000-43410000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr18:43408000-43410000	Enhancers	Placenta Amnion	Placenta Amnion
29	chr18:43408200-43410400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr18:43408400-43410400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr18:43408400-43413400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr18:43408400-43415400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr18:43408400-43417400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr18:43408600-43409800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr18:43408600-43409800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr18:43408800-43409800	Bivalent Enhancer	Esophagus	oesophagus
37	chr18:43408800-43410000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr18:43408800-43410200	Bivalent Enhancer	Fetal Stomach	stomach
39	chr18:43408800-43414600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr18:43408800-43416400	Enhancers	Fetal Intestine Small	intestine
41	chr18:43409000-43409800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr18:43409000-43409800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr18:43409200-43410000	Flanking Active TSS	Stomach Mucosa	stomach
44	chr18:43409200-43410400	Enhancers	Duodenum Mucosa	Duodenum
45	chr18:43409200-43412600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr18:43409200-43412600	Weak transcription	NH-A	brain
47	chr18:43409400-43409800	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr18:43409400-43410400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr18:43409400-43412600	Weak transcription	Osteobl	bone
50	chr18:43409400-43414600	Weak transcription	Liver	Liver

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