Variant report

Variant	rs12414218
Chromosome Location	chr10:89481779-89481780
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	chr10:89475585..89478036-chr10:89480183..89481835,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10887745	0.82[CEU][hapmap]
rs10887746	0.82[CEU][hapmap]
rs10887748	0.82[CEU][hapmap]
rs10887749	0.82[CEU][hapmap]
rs10887750	0.82[CEU][hapmap]
rs11202526	0.82[CEU][hapmap]
rs11202527	0.82[CEU][hapmap]
rs11202564	0.85[YRI][hapmap]
rs11813070	1.00[CEU][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12414734	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2302407	0.82[CEU][hapmap]
rs3781187	0.82[CEU][hapmap]
rs3781189	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3815417	0.82[CEU][hapmap]
rs4933460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4934363	0.82[CEU][hapmap]
rs4934364	0.82[CEU][hapmap]
rs4934366	0.82[CEU][hapmap]
rs4934367	0.82[CEU][hapmap]
rs55911146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7068030	0.81[CEU][hapmap]
rs7080206	0.82[CEU][hapmap]
rs7080768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7097745	0.82[CEU][hapmap]
rs72811988	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7898500	0.82[CEU][hapmap]
rs7898915	0.85[YRI][hapmap]
rs7919607	0.81[CEU][hapmap]
rs7920554	0.82[CEU][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12414218	PAPSS2	cis	Muscle Skeletal	GTEx

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:89460400-89512000	Weak transcription	HSMM	muscle
2	chr10:89462200-89494800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr10:89462400-89482600	Weak transcription	Small Intestine	intestine
4	chr10:89462400-89482800	Weak transcription	Colonic Mucosa	Colon
5	chr10:89463000-89489400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:89463000-89494600	Weak transcription	Fetal Muscle Leg	muscle
7	chr10:89463000-89541400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr10:89466200-89494600	Weak transcription	A549	lung
9	chr10:89466800-89494600	Weak transcription	Hela-S3	cervix
10	chr10:89468200-89482800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr10:89468600-89494000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr10:89468800-89483200	Strong transcription	Osteobl	bone
13	chr10:89469200-89481800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:89470200-89487000	Weak transcription	Aorta	Aorta
15	chr10:89470600-89493800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr10:89472400-89503000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:89473000-89482400	Weak transcription	Fetal Kidney	kidney
18	chr10:89473000-89577200	Weak transcription	Gastric	stomach
19	chr10:89473600-89494000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr10:89473800-89493600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr10:89475200-89485600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:89475400-89487000	Weak transcription	Placenta	Placenta
23	chr10:89476000-89482800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr10:89476000-89483000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr10:89476000-89487000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr10:89476000-89494600	Weak transcription	NHDF-Ad	bronchial
27	chr10:89476200-89482800	Strong transcription	Liver	Liver
28	chr10:89476200-89489800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr10:89476200-89489800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr10:89476200-89494000	Weak transcription	Fetal Stomach	stomach
31	chr10:89476200-89494600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr10:89476200-89542400	Weak transcription	Pancreas	Pancrea
33	chr10:89476400-89494000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr10:89476400-89494800	Weak transcription	Spleen	Spleen
35	chr10:89476400-89504800	Weak transcription	Left Ventricle	heart
36	chr10:89477000-89489800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr10:89477200-89481800	Weak transcription	NH-A	brain
38	chr10:89477200-89494800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr10:89477400-89500000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr10:89478000-89494800	Weak transcription	Ovary	ovary
41	chr10:89479200-89485000	Weak transcription	Adipose Nuclei	Adipose
42	chr10:89479600-89482600	Weak transcription	Fetal Intestine Large	intestine
43	chr10:89480000-89484000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr10:89480200-89482400	Weak transcription	Fetal Intestine Small	intestine
45	chr10:89480600-89483000	Enhancers	HUVEC	blood vessel
46	chr10:89480800-89482800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr10:89480800-89484600	Weak transcription	Lung	lung
48	chr10:89481000-89482200	Weak transcription	Fetal Lung	lung
49	chr10:89481200-89482600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr10:89481200-89482600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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