Variant report

Variant	rs73270275
Chromosome Location	chr12:42754088-42754089
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	chr12:42752516..42754157-chr12:42754165..42756089,3	MCF-7	breast:
2	chr12:42749730..42752299-chr12:42753971..42755536,2	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11829039	1.00[EUR][1000 genomes]
rs11829542	1.00[EUR][1000 genomes]
rs11830248	1.00[EUR][1000 genomes]
rs11830386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11831464	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11832196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11832840	1.00[EUR][1000 genomes]
rs11833011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11833109	1.00[EUR][1000 genomes]
rs11833381	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11834665	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11837839	1.00[EUR][1000 genomes]
rs17091023	1.00[EUR][1000 genomes]
rs1873684	1.00[EUR][1000 genomes]
rs2406968	1.00[EUR][1000 genomes]
rs56691329	1.00[EUR][1000 genomes]
rs57490344	1.00[EUR][1000 genomes]
rs57647260	1.00[EUR][1000 genomes]
rs57955254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58229270	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58676357	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59190545	1.00[EUR][1000 genomes]
rs59577937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59645146	1.00[EUR][1000 genomes]
rs60314019	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60982601	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61067658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7299386	1.00[EUR][1000 genomes]
rs73270269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73270279	1.00[EUR][1000 genomes]
rs73270293	1.00[EUR][1000 genomes]
rs73272004	1.00[EUR][1000 genomes]
rs73272008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272013	1.00[EUR][1000 genomes]
rs73272046	1.00[EUR][1000 genomes]
rs73272047	1.00[EUR][1000 genomes]
rs73272050	1.00[EUR][1000 genomes]
rs73272072	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272073	1.00[EUR][1000 genomes]
rs73272080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272091	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272101	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73273911	1.00[EUR][1000 genomes]
rs73273932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73273975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73277820	1.00[EUR][1000 genomes]
rs73281814	1.00[EUR][1000 genomes]
rs73281820	1.00[EUR][1000 genomes]
rs73281838	1.00[EUR][1000 genomes]
rs73281851	1.00[EUR][1000 genomes]
rs73281860	1.00[EUR][1000 genomes]
rs73281880	1.00[EUR][1000 genomes]
rs73281886	1.00[EUR][1000 genomes]
rs73281894	1.00[EUR][1000 genomes]
rs73283707	1.00[EUR][1000 genomes]
rs73283734	1.00[EUR][1000 genomes]
rs73283759	1.00[EUR][1000 genomes]
rs73283792	1.00[EUR][1000 genomes]
rs73283799	1.00[EUR][1000 genomes]
rs73285617	1.00[EUR][1000 genomes]
rs73285619	1.00[EUR][1000 genomes]
rs73285621	1.00[EUR][1000 genomes]
rs73285641	1.00[EUR][1000 genomes]
rs73285662	1.00[EUR][1000 genomes]
rs73285670	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048971	chr12:42651976-42801204	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42720800-42844400	Weak transcription	Small Intestine	intestine
2	chr12:42721000-42758000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:42721600-42769000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:42721600-42778600	Weak transcription	Spleen	Spleen
5	chr12:42721600-42800800	Weak transcription	Psoas Muscle	Psoas
6	chr12:42721600-42803600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:42721800-42756200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:42721800-42769600	Weak transcription	Brain Substantia Nigra	brain
9	chr12:42721800-42769800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:42721800-42797000	Weak transcription	NHLF	lung
11	chr12:42721800-42803600	Weak transcription	Gastric	stomach
12	chr12:42722000-42769600	Weak transcription	Brain Anterior Caudate	brain
13	chr12:42722000-42769600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:42722000-42772600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:42722000-42793200	Weak transcription	Fetal Kidney	kidney
16	chr12:42722200-42769200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:42724400-42755400	Weak transcription	Pancreas	Pancrea
18	chr12:42730800-42769600	Weak transcription	NH-A	brain
19	chr12:42731000-42757400	Weak transcription	Brain Germinal Matrix	brain
20	chr12:42731000-42768800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:42731400-42769600	Weak transcription	Fetal Lung	lung
22	chr12:42731800-42770400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:42732000-42754200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:42732000-42754200	Weak transcription	Lung	lung
25	chr12:42732200-42781200	Weak transcription	Fetal Brain Female	brain
26	chr12:42732200-42794400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:42732400-42763600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr12:42732400-42769600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:42733400-42796800	Weak transcription	Brain Hippocampus Middle	brain
30	chr12:42738000-42787400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr12:42738200-42823200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr12:42742000-42758400	Weak transcription	Stomach Mucosa	stomach
33	chr12:42742600-42758800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:42743000-42755000	Weak transcription	Brain Angular Gyrus	brain
35	chr12:42743200-42755600	Weak transcription	NHEK	skin
36	chr12:42745200-42758800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr12:42746000-42757000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:42746000-42778400	Weak transcription	Fetal Brain Male	brain
39	chr12:42746600-42769800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:42747400-42768800	Weak transcription	NHDF-Ad	bronchial
41	chr12:42747600-42769000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:42748200-42763600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:42748400-42757400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:42750200-42756600	Weak transcription	Fetal Intestine Small	intestine
45	chr12:42750200-42762000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:42750400-42754400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:42750400-42754600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:42750400-42754600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:42750400-42755800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr12:42750400-42758600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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