Variant report

Variant	rs12580479
Chromosome Location	chr12:51097010-51097011
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51093123..51095984-chr12:51096359..51098368,2	K562	blood:
2	chr12:51074554..51076965-chr12:51096673..51099522,2	MCF-7	breast:

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1003033	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10431535	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10444547	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10459234	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10459235	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10506294	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10506295	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10747587	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10783381	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10783382	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10783383	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10783384	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10783389	0.80[ASN][1000 genomes]
rs10876070	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10876071	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10876072	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10876073	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10876075	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10876076	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10876080	0.82[ASN][1000 genomes]
rs10876081	0.85[ASN][1000 genomes]
rs10876089	0.83[ASN][1000 genomes]
rs10876094	0.81[ASN][1000 genomes]
rs10876095	0.82[ASN][1000 genomes]
rs10876096	0.81[ASN][1000 genomes]
rs10876097	0.82[ASN][1000 genomes]
rs11169505	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11169507	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11169515	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11169528	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169532	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169537	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169538	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169539	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169544	0.88[ASN][1000 genomes]
rs11169552	0.85[ASN][1000 genomes]
rs11169554	0.83[ASN][1000 genomes]
rs11615933	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12230242	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12231309	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12231317	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12424860	0.84[ASN][1000 genomes]
rs12580051	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12809086	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1344958	0.80[ASN][1000 genomes]
rs17124930	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35845404	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3742063	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3742064	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3809319	0.83[ASN][1000 genomes]
rs3825402	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4026593	0.82[ASN][1000 genomes]
rs4238106	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4238108	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4307773	0.88[ASN][1000 genomes]
rs4768858	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4768899	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4768904	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4768906	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4768907	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768911	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4768912	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4768913	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4768914	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4768917	0.88[ASN][1000 genomes]
rs4768921	0.83[ASN][1000 genomes]
rs4768922	0.82[ASN][1000 genomes]
rs4768923	0.80[ASN][1000 genomes]
rs61926275	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7134976	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7307419	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73094900	0.88[ASN][1000 genomes]
rs73096846	0.83[ASN][1000 genomes]
rs876078	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs876079	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs952318	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9788159	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12580479	DIP2B	cis	Thyroid	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51049200-51108600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:51060000-51101200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:51060200-51108200	Weak transcription	Stomach Mucosa	stomach
4	chr12:51063200-51138600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr12:51063600-51138800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:51063600-51145400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:51064000-51109800	Strong transcription	Primary B cells from peripheral blood	blood
8	chr12:51064000-51127400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:51067400-51106200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:51067400-51120600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:51067400-51143600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:51067600-51142200	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:51068200-51106200	Strong transcription	Fetal Thymus	thymus
14	chr12:51068200-51141200	Strong transcription	Placenta	Placenta
15	chr12:51068200-51144000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:51074200-51106000	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr12:51074600-51109800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:51074600-51139600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:51075200-51098800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:51076600-51102600	Strong transcription	Adipose Nuclei	Adipose
21	chr12:51079200-51120600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:51080200-51145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:51083400-51126000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:51084600-51102400	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:51084600-51106000	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:51085600-51118400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:51086200-51109800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr12:51086200-51140800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:51086200-51142600	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr12:51086400-51099600	Strong transcription	Thymus	Thymus
31	chr12:51086400-51113400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:51086600-51106200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:51086800-51100400	Strong transcription	Left Ventricle	heart
34	chr12:51086800-51106000	Strong transcription	Brain Cingulate Gyrus	brain
35	chr12:51086800-51106200	Strong transcription	Primary B cells from cord blood	blood
36	chr12:51087600-51099600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:51087600-51106200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:51089000-51106200	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:51089200-51103000	Strong transcription	Fetal Lung	lung
40	chr12:51089400-51101000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr12:51090400-51145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:51090600-51099600	Strong transcription	Lung	lung
43	chr12:51090600-51138400	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr12:51090800-51099400	Strong transcription	Fetal Stomach	stomach
45	chr12:51091000-51097400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:51091000-51098800	Weak transcription	Small Intestine	intestine
47	chr12:51091000-51102000	Weak transcription	NHDF-Ad	bronchial
48	chr12:51092000-51098400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:51092800-51097200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:51093000-51100200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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