Variant report

Variant	rs16830748
Chromosome Location	chr3:159491807-159491808
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:159481784..159484583-chr3:159491233..159495537,4	MCF-7	breast:
2	chr3:159490266..159491970-chr3:159504872..159507711,2	MCF-7	breast:
3	chr3:159481683..159485733-chr3:159491404..159494052,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250588	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12629172	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12631468	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13064339	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13065938	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes]
rs13065987	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13066040	0.89[MEX][hapmap]
rs13066560	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13067050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13072356	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13075534	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13077427	0.85[CEU][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs13078322	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13080307	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13080768	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13085339	0.91[CEU][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13088481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13088959	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13100094	0.85[CEU][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs13100614	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16830741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16830780	0.85[CEU][hapmap]
rs2076889	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2126142	0.85[CEU][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs2366405	0.85[CEU][hapmap]
rs34586932	0.92[ASN][1000 genomes]
rs34682429	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35035161	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35165740	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35527279	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35792854	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3892994	0.91[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4680522	0.91[ASN][1000 genomes]
rs56077320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58755984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61597037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441272	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs6792870	0.85[CEU][hapmap];0.89[MEX][hapmap]
rs71625413	0.97[AMR][1000 genomes]
rs7631400	0.85[CEU][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs9860588	0.85[CEU][hapmap]
rs9880487	0.85[CEU][hapmap];0.89[MEX][hapmap]
rs9884085	0.85[CEU][hapmap];0.89[MEX][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16830748	PUS3	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159483600-159493000	Weak transcription	Gastric	stomach
2	chr3:159483800-159493200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:159484000-159494600	Weak transcription	Psoas Muscle	Psoas
4	chr3:159484200-159493200	Weak transcription	Lung	lung
5	chr3:159484200-159501200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:159484400-159493000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:159484400-159493000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:159484400-159493000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr3:159484400-159493200	Weak transcription	Fetal Stomach	stomach
10	chr3:159484400-159505400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:159484600-159500400	Weak transcription	Fetal Intestine Small	intestine
12	chr3:159484800-159493000	Weak transcription	HSMMtube	muscle
13	chr3:159485000-159492600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:159485000-159492800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:159485000-159493000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:159485600-159493000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:159485600-159493000	Weak transcription	HMEC	breast
18	chr3:159485600-159493400	Weak transcription	Fetal Brain Female	brain
19	chr3:159485800-159493000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr3:159486200-159492200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:159486600-159493200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:159486800-159493000	Weak transcription	Right Ventricle	heart
23	chr3:159486800-159493000	Weak transcription	NH-A	brain
24	chr3:159486800-159493000	Weak transcription	NHEK	skin
25	chr3:159486800-159494000	Weak transcription	Fetal Heart	heart
26	chr3:159487600-159493000	Weak transcription	Right Atrium	heart
27	chr3:159488400-159494600	Weak transcription	Spleen	Spleen
28	chr3:159488600-159492400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr3:159488600-159492600	Weak transcription	Brain Anterior Caudate	brain
30	chr3:159488600-159492800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr3:159488600-159493200	Weak transcription	Pancreas	Pancrea
32	chr3:159488600-159493200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr3:159488800-159492400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr3:159488800-159492600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr3:159488800-159492800	Weak transcription	Stomach Mucosa	stomach
36	chr3:159488800-159493000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:159489000-159492800	Weak transcription	NHDF-Ad	bronchial
38	chr3:159489200-159492600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr3:159489400-159492400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:159489400-159492400	Weak transcription	NHLF	lung
41	chr3:159489400-159492600	Weak transcription	Osteobl	bone
42	chr3:159489400-159493000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:159490200-159492600	Weak transcription	A549	lung
44	chr3:159490200-159493000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr3:159490200-159493000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:159490200-159493000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:159490200-159493000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:159490200-159493000	Weak transcription	Left Ventricle	heart
49	chr3:159490200-159501400	Weak transcription	Aorta	Aorta
50	chr3:159490400-159492400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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