Variant report

Variant	rs73273932
Chromosome Location	chr12:42835082-42835083
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	chr12:42828703..42831036-chr12:42833458..42835098,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11829039	1.00[EUR][1000 genomes]
rs11830386	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11831464	0.90[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	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11834665	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11837839	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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58229270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58676357	0.84[AFR][1000 genomes];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	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60982601	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61067658	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7299386	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73270269	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73270275	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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272013	1.00[EUR][1000 genomes]
rs73272046	1.00[EUR][1000 genomes]
rs73272047	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73272050	1.00[EUR][1000 genomes]
rs73272072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272073	1.00[EUR][1000 genomes]
rs73272080	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272091	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272101	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73273911	1.00[EUR][1000 genomes]
rs73273975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73277820	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:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:125 , 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	chr12:42767200-42836200	Weak transcription	Esophagus	oesophagus
3	chr12:42780200-42836000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:42783000-42836000	Weak transcription	Lung	lung
5	chr12:42785400-42836000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:42789600-42836200	Weak transcription	Pancreas	Pancrea
7	chr12:42793800-42840400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:42795800-42836000	Weak transcription	Thymus	Thymus
9	chr12:42796000-42835800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:42796000-42836200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:42796000-42836200	Weak transcription	Fetal Stomach	stomach
12	chr12:42796000-42836400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:42796000-42838000	Weak transcription	HSMMtube	muscle
14	chr12:42814200-42835400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:42814200-42835600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr12:42814400-42835600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:42815400-42836000	Weak transcription	Ovary	ovary
18	chr12:42816200-42858200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:42816400-42835400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:42816400-42836000	Weak transcription	NHLF	lung
21	chr12:42816800-42835800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:42816800-42840400	Weak transcription	Fetal Kidney	kidney
23	chr12:42816800-42862400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:42817000-42836600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:42817000-42840000	Weak transcription	NHDF-Ad	bronchial
26	chr12:42818000-42835600	Weak transcription	Placenta	Placenta
27	chr12:42818000-42836200	Weak transcription	Right Ventricle	heart
28	chr12:42818600-42835800	Weak transcription	Fetal Lung	lung
29	chr12:42818600-42836200	Weak transcription	Aorta	Aorta
30	chr12:42819800-42836200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr12:42820000-42858200	Weak transcription	Gastric	stomach
32	chr12:42820200-42853000	Weak transcription	Fetal Heart	heart
33	chr12:42820800-42836000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:42821000-42835400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:42821000-42835400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr12:42821000-42835800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:42821000-42844000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr12:42821200-42836600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:42821400-42836600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:42821400-42840200	Weak transcription	HUVEC	blood vessel
41	chr12:42822000-42836000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:42823600-42839600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr12:42823800-42840600	Weak transcription	NH-A	brain
44	chr12:42824200-42836000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr12:42824600-42835600	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:42826000-42836200	Weak transcription	Fetal Brain Female	brain
47	chr12:42826000-42836200	Weak transcription	Spleen	Spleen
48	chr12:42826000-42836400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:42826000-42842400	Weak transcription	HSMM	muscle
50	chr12:42826200-42835200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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