Variant report

Variant	rs12082192
Chromosome Location	chr1:59125899-59125900
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59039914..59042841-chr1:59125894..59128684,2	MCF-7	breast:
2	chr1:59124310..59126934-chr1:59160369..59163254,2	K562	blood:
3	chr1:59123673..59126344-chr1:59132381..59135089,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10489540	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11207278	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11207284	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11207297	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11207299	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12062727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12070703	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12073211	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12078684	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12080369	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12092264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12562490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12737926	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12742701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17117968	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17118041	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17118097	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1961787	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2897558	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35180093	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4244016	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4414067	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4483434	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4553223	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4612650	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4912361	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4912364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912365	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912366	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912371	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4912375	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55677434	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55892958	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56398740	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61292499	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6659809	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6664796	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6673162	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6682078	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12082192	DAB1///OMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59102000-59130400	Weak transcription	Aorta	Aorta
2	chr1:59108200-59130400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:59114400-59130200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:59115000-59132800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:59115600-59138400	Weak transcription	Small Intestine	intestine
6	chr1:59115800-59129800	Weak transcription	Brain Germinal Matrix	brain
7	chr1:59116000-59129200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:59116000-59129200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:59116000-59151600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:59116400-59137800	Weak transcription	Fetal Heart	heart
11	chr1:59116800-59131400	Weak transcription	Fetal Stomach	stomach
12	chr1:59117800-59147600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:59118000-59139000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:59118200-59127200	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:59118200-59130400	Weak transcription	Brain Anterior Caudate	brain
16	chr1:59118200-59163400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:59118400-59129600	Weak transcription	Fetal Brain Male	brain
18	chr1:59118400-59129600	Weak transcription	Stomach Mucosa	stomach
19	chr1:59118400-59130000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:59118600-59147400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:59118800-59130200	Weak transcription	Brain Angular Gyrus	brain
22	chr1:59118800-59130400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:59119000-59135200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr1:59119200-59130400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:59119800-59147600	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:59119800-59155000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:59119800-59162200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:59119800-59163200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:59120000-59143000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:59120000-59153400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:59120200-59149400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:59121000-59161200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:59121200-59130400	Strong transcription	Adipose Nuclei	Adipose
34	chr1:59121200-59141600	Strong transcription	Primary B cells from cord blood	blood
35	chr1:59121400-59134800	Strong transcription	Placenta	Placenta
36	chr1:59121400-59145400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:59121400-59161000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:59121600-59126200	Strong transcription	Primary T cells from cord blood	blood
39	chr1:59121600-59127600	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr1:59121600-59127800	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr1:59121600-59128000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:59121600-59130200	Strong transcription	NHDF-Ad	bronchial
43	chr1:59121600-59130800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:59121600-59130800	Strong transcription	Osteobl	bone
45	chr1:59121600-59131400	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr1:59121600-59134200	Strong transcription	Duodenum Mucosa	Duodenum
47	chr1:59121600-59139800	Weak transcription	Hela-S3	cervix
48	chr1:59121600-59141600	Strong transcription	NH-A	brain
49	chr1:59121600-59142200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:59121600-59143000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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