Variant report

Variant	rs74080976
Chromosome Location	chr12:45615294-45615295
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45609724..45611735-chr12:45612584..45615895,4	MCF-7	breast:
2	chr12:45608077..45611445-chr12:45614195..45617130,4	K562	blood:
3	chr12:45613308..45615413-chr12:45619971..45621498,2	K562	blood:
4	chr12:45613975..45618238-chr12:45622905..45626980,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134297	Chromatin interaction
ENSG00000177119	Chromatin interaction

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]
rs74080979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080982	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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45611000-45617600	Weak transcription	Gastric	stomach
2	chr12:45611000-45624800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:45611200-45628000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:45611400-45615800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:45611600-45629400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:45611800-45615600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:45611800-45615600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:45611800-45624800	Weak transcription	HSMM	muscle
9	chr12:45612000-45615600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:45612000-45617600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:45612200-45615400	Enhancers	Colon Smooth Muscle	Colon
12	chr12:45612200-45615400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr12:45612200-45617800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:45612200-45621200	Weak transcription	Fetal Brain Female	brain
15	chr12:45612400-45615400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:45612400-45617800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:45612400-45624800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:45612400-45624800	Weak transcription	Osteobl	bone
19	chr12:45612400-45628000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr12:45612600-45616600	Weak transcription	K562	blood
21	chr12:45612600-45621200	Weak transcription	Brain Germinal Matrix	brain
22	chr12:45613000-45616600	Weak transcription	Fetal Muscle Leg	muscle
23	chr12:45613200-45615600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr12:45613200-45615600	Enhancers	Ovary	ovary
25	chr12:45613200-45622400	Weak transcription	Primary B cells from cord blood	blood
26	chr12:45613400-45615600	Enhancers	Aorta	Aorta
27	chr12:45613600-45615400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:45613600-45616000	Genic enhancers	Fetal Thymus	thymus
29	chr12:45613800-45615400	Enhancers	Adipose Nuclei	Adipose
30	chr12:45613800-45615600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr12:45613800-45616800	Weak transcription	Psoas Muscle	Psoas
32	chr12:45613800-45621200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:45613800-45621200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr12:45613800-45624200	Weak transcription	HUVEC	blood vessel
35	chr12:45613800-45625000	Weak transcription	NHLF	lung
36	chr12:45613800-45625600	Weak transcription	Right Ventricle	heart
37	chr12:45613800-45628400	Weak transcription	Lung	lung
38	chr12:45613800-45628800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:45613800-45635800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr12:45613800-45638000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:45613800-45638200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:45614000-45615400	Active TSS	GM12878-XiMat	blood
43	chr12:45614000-45617000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:45614000-45617200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:45614000-45621800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr12:45614000-45621800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:45614000-45624600	Weak transcription	NHDF-Ad	bronchial
48	chr12:45614000-45625200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr12:45614000-45625400	Weak transcription	Brain Substantia Nigra	brain
50	chr12:45614000-45626400	Weak transcription	Left Ventricle	heart

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