Variant report

Variant	rs73285666
Chromosome Location	chr12:42732350-42732351
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	chr12:42730865..42733403-chr12:42735896..42737550,2	MCF-7	breast:
2	chr12:42725434..42728345-chr12:42731644..42734670,3	K562	blood:

Variant related genes	Relation type
ENSG00000134283	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11385212	0.83[AMR][1000 genomes]
rs1234113	0.83[AMR][1000 genomes]
rs1683193	0.83[AMR][1000 genomes]
rs2639128	0.83[AMR][1000 genomes]
rs57166587	1.00[AMR][1000 genomes]
rs57260154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57549495	0.83[AMR][1000 genomes]
rs57582332	0.83[AMR][1000 genomes]
rs58488818	1.00[AMR][1000 genomes]
rs58902406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59321446	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60327465	0.83[AMR][1000 genomes]
rs60341977	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs712113	0.83[AMR][1000 genomes]
rs712117	0.83[AMR][1000 genomes]
rs712121	0.83[AMR][1000 genomes]
rs712128	0.83[AMR][1000 genomes]
rs7132315	0.83[AMR][1000 genomes]
rs7136339	1.00[AMR][1000 genomes]
rs7298660	0.83[AMR][1000 genomes]
rs7303532	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73270272	0.83[AMR][1000 genomes]
rs73272006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272039	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272041	1.00[AMR][1000 genomes]
rs73272052	1.00[AMR][1000 genomes]
rs73272054	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272065	1.00[AMR][1000 genomes]
rs73273905	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73273908	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73273915	1.00[AMR][1000 genomes]
rs73273940	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73273948	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280085	0.83[AMR][1000 genomes]
rs73280087	0.83[AMR][1000 genomes]
rs73280101	0.83[AMR][1000 genomes]
rs73281848	0.83[AMR][1000 genomes]
rs73281857	0.83[AMR][1000 genomes]
rs73281868	0.83[AMR][1000 genomes]
rs73281890	0.83[AMR][1000 genomes]
rs73281897	0.83[AMR][1000 genomes]
rs73283726	0.83[AMR][1000 genomes]
rs73283728	0.83[AMR][1000 genomes]
rs73283731	0.83[AMR][1000 genomes]
rs73283737	0.83[AMR][1000 genomes]
rs73283752	0.83[AMR][1000 genomes]
rs73283757	0.83[AMR][1000 genomes]
rs73283764	0.83[AMR][1000 genomes]
rs73283782	1.00[AMR][1000 genomes]
rs73285606	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285607	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285610	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285625	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078990	1.00[AMR][1000 genomes]
rs7957401	0.83[AMR][1000 genomes]
rs7960285	0.83[AMR][1000 genomes]
rs7964994	0.83[AMR][1000 genomes]
rs850828	0.83[AMR][1000 genomes]
rs864291	0.83[AMR][1000 genomes]
rs864298	0.83[AMR][1000 genomes]
rs9669751	0.83[AMR][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:119 , 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	chr12:42721200-42732800	Weak transcription	Colonic Mucosa	Colon
4	chr12:42721600-42736600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:42721600-42739200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:42721600-42743000	Weak transcription	Esophagus	oesophagus
7	chr12:42721600-42747600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:42721600-42748600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:42721600-42750000	Weak transcription	Aorta	Aorta
10	chr12:42721600-42750600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:42721600-42751800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:42721600-42769000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:42721600-42778600	Weak transcription	Spleen	Spleen
14	chr12:42721600-42800800	Weak transcription	Psoas Muscle	Psoas
15	chr12:42721600-42803600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:42721800-42740200	Weak transcription	HSMMtube	muscle
17	chr12:42721800-42745400	Weak transcription	Fetal Brain Male	brain
18	chr12:42721800-42750200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:42721800-42756200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:42721800-42769600	Weak transcription	Brain Substantia Nigra	brain
21	chr12:42721800-42769800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:42721800-42797000	Weak transcription	NHLF	lung
23	chr12:42721800-42803600	Weak transcription	Gastric	stomach
24	chr12:42722000-42737600	Weak transcription	NHDF-Ad	bronchial
25	chr12:42722000-42769600	Weak transcription	Brain Anterior Caudate	brain
26	chr12:42722000-42769600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:42722000-42772600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:42722000-42793200	Weak transcription	Fetal Kidney	kidney
29	chr12:42722200-42732600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr12:42722200-42732600	Weak transcription	HSMM	muscle
31	chr12:42722200-42749800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:42722200-42750200	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:42722200-42752800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:42722200-42769200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:42722400-42744600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:42724400-42742200	Weak transcription	Brain Angular Gyrus	brain
37	chr12:42724400-42755400	Weak transcription	Pancreas	Pancrea
38	chr12:42726000-42733600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:42726000-42740200	Weak transcription	Fetal Heart	heart
40	chr12:42726200-42749400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:42727800-42736600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr12:42727800-42736800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr12:42729000-42742200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:42729400-42733200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr12:42729600-42736200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:42729600-42736400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:42729600-42738200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:42729600-42738200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:42729800-42733400	Strong transcription	Hela-S3	cervix
50	chr12:42730000-42732800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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