Variant report

Variant	rs74080982
Chromosome Location	chr12:45639882-45639883
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	chr12:45639399..45641571-chr12:45642912..45645848,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs17095452	0.91[AFR][1000 genomes]
rs55994528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56162044	1.00[AMR][1000 genomes]
rs56409009	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56672176	0.90[AFR][1000 genomes]
rs56842412	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57283482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57514011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57516582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57590365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57752448	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58025806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58379974	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58615264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58938625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58992779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59111701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59344692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59579391	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60098273	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60717004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61226604	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61679354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61740396	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080326	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080682	0.90[AFR][1000 genomes]
rs74080804	1.00[AMR][1000 genomes]
rs74080853	0.90[AFR][1000 genomes]
rs74080929	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080930	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083303	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083306	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083403	0.86[AFR][1000 genomes]
rs74083404	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083405	0.87[AFR][1000 genomes];1.00[AMR][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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45614400-45650200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:45627400-45650600	Weak transcription	Primary B cells from cord blood	blood
3	chr12:45629800-45640000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:45629800-45640200	Weak transcription	Gastric	stomach
5	chr12:45629800-45640400	Weak transcription	Ovary	ovary
6	chr12:45629800-45641400	Weak transcription	Left Ventricle	heart
7	chr12:45629800-45642600	Weak transcription	Brain Substantia Nigra	brain
8	chr12:45629800-45642600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:45629800-45651000	Weak transcription	K562	blood
10	chr12:45629800-45651400	Weak transcription	Fetal Intestine Large	intestine
11	chr12:45629800-45652400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:45630000-45640200	Weak transcription	Fetal Lung	lung
13	chr12:45630000-45647800	Weak transcription	Right Ventricle	heart
14	chr12:45630000-45648600	Weak transcription	NHEK	skin
15	chr12:45630000-45651000	Weak transcription	Fetal Muscle Leg	muscle
16	chr12:45630000-45651000	Weak transcription	HepG2	liver
17	chr12:45630000-45653200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:45630400-45641200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:45635600-45640200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:45636000-45651000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:45636200-45641400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:45636200-45647400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr12:45636200-45651000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:45636200-45652400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:45636200-45653400	Weak transcription	Thymus	Thymus
26	chr12:45636200-45662400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:45636400-45640400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:45636400-45643400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:45636400-45647800	Weak transcription	Fetal Stomach	stomach
30	chr12:45636400-45648000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:45636400-45650000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:45636400-45650400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr12:45636400-45651000	Weak transcription	Pancreas	Pancrea
34	chr12:45636400-45652200	Weak transcription	Fetal Intestine Small	intestine
35	chr12:45636400-45653200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:45637200-45640600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:45638400-45640600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr12:45638600-45640600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr12:45638800-45640000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:45638800-45640200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:45638800-45640200	Enhancers	Colon Smooth Muscle	Colon
42	chr12:45638800-45640200	Enhancers	Osteobl	bone
43	chr12:45638800-45640600	Weak transcription	Lung	lung
44	chr12:45638800-45640600	Enhancers	NHLF	lung
45	chr12:45638800-45641000	Weak transcription	A549	lung
46	chr12:45638800-45643400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:45638800-45650200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:45638800-45650800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:45638800-45650800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr12:45638800-45650800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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