Variant report

Variant	rs12255595
Chromosome Location	chr10:116173002-116173003
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	chr10:116058474..116060652-chr10:116172090..116174186,2	MCF-7	breast:
2	chr10:116063461..116065488-chr10:116171625..116174495,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169129	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10736236	0.83[JPT][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10749162	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10749163	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10749164	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10787528	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10885560	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10885562	0.92[ASN][1000 genomes]
rs11196730	0.95[MEX][hapmap];0.82[TSI][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12248736	0.83[AMR][1000 genomes]
rs2065022	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4545457	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56752894	0.88[ASN][1000 genomes]
rs6585278	0.80[CHD][hapmap]
rs7075375	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.90[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7081297	1.00[CHB][hapmap];0.98[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7088296	0.86[AMR][1000 genomes]
rs7916887	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7917233	0.91[CHB][hapmap];0.98[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7918207	0.80[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12255595	PTGIS	trans	parietal	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116169600-116177600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:116171800-116173600	Enhancers	HMEC	breast
3	chr10:116172000-116173600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:116172000-116173600	Enhancers	Esophagus	oesophagus
5	chr10:116172000-116173600	Enhancers	Fetal Muscle Leg	muscle
6	chr10:116172000-116173600	Enhancers	Left Ventricle	heart
7	chr10:116172000-116173600	Enhancers	Right Atrium	heart
8	chr10:116172000-116173600	Enhancers	Spleen	Spleen
9	chr10:116172200-116173400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr10:116172200-116173600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr10:116172200-116173600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr10:116172200-116173600	Enhancers	Placenta	Placenta
13	chr10:116172200-116173600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr10:116172200-116173600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr10:116172400-116173200	Enhancers	Primary hematopoietic stem cells	blood
16	chr10:116172400-116173400	Enhancers	NHLF	lung
17	chr10:116172400-116173600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:116172400-116173600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr10:116172400-116173600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr10:116172400-116173600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr10:116172400-116173600	Enhancers	Adipose Nuclei	Adipose
22	chr10:116172400-116173600	Enhancers	Aorta	Aorta
23	chr10:116172400-116173600	Enhancers	Fetal Lung	lung
24	chr10:116172400-116173600	Enhancers	Right Ventricle	heart
25	chr10:116172400-116173600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr10:116172400-116173600	Enhancers	HUVEC	blood vessel
27	chr10:116172400-116173600	Enhancers	NH-A	brain
28	chr10:116172600-116173400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr10:116172600-116173400	Flanking Active TSS	Hela-S3	cervix
30	chr10:116172600-116173600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr10:116172600-116173600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr10:116172600-116173600	Enhancers	Colon Smooth Muscle	Colon
33	chr10:116172600-116173600	Enhancers	Duodenum Mucosa	Duodenum
34	chr10:116172600-116173600	Enhancers	Fetal Muscle Trunk	muscle
35	chr10:116172600-116173600	Enhancers	Fetal Stomach	stomach
36	chr10:116172600-116173600	Enhancers	Lung	lung
37	chr10:116172600-116173600	Enhancers	Ovary	ovary
38	chr10:116172600-116173600	Enhancers	Pancreas	Pancrea
39	chr10:116172600-116173600	Enhancers	Psoas Muscle	Psoas
40	chr10:116172600-116173600	Enhancers	Stomach Mucosa	stomach
41	chr10:116172600-116173600	Enhancers	HSMM	muscle
42	chr10:116172800-116173200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr10:116172800-116173200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr10:116172800-116173200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr10:116172800-116173600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr10:116172800-116173600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr10:116172800-116173600	Enhancers	Rectal Smooth Muscle	rectum
48	chr10:116172800-116173600	Flanking Active TSS	A549	lung
49	chr10:116172800-116173600	Enhancers	NHDF-Ad	bronchial
50	chr10:116173000-116173200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum

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