Variant report

Variant	rs55759881
Chromosome Location	chr12:48469564-48469565
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	chr12:48468414..48470929-chr12:48522430..48524635,2	K562	blood:
2	chr12:48468062..48470836-chr12:48471643..48474168,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs55789595	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55991805	0.83[AMR][1000 genomes]
rs57539024	0.83[AMR][1000 genomes]
rs58148022	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58373242	1.00[AMR][1000 genomes]
rs59051221	0.83[AMR][1000 genomes]
rs59643562	0.83[AMR][1000 genomes]
rs59787033	0.83[AMR][1000 genomes]
rs59896935	0.83[AMR][1000 genomes]
rs60001451	0.83[AMR][1000 genomes]
rs60316794	0.83[AMR][1000 genomes]
rs61558457	0.83[AMR][1000 genomes]
rs61750873	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7316275	0.83[AMR][1000 genomes]
rs74086781	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086968	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086984	0.83[AMR][1000 genomes]
rs74089112	0.83[AMR][1000 genomes]
rs74089120	0.83[AMR][1000 genomes]
rs74089127	0.83[AMR][1000 genomes]
rs74089135	0.83[AMR][1000 genomes]
rs74089149	0.83[AMR][1000 genomes]
rs74089151	0.83[AMR][1000 genomes]
rs74089154	0.83[AMR][1000 genomes]
rs74089161	0.83[AMR][1000 genomes]
rs74089171	0.83[AMR][1000 genomes]
rs74089530	0.83[AFR][1000 genomes]
rs74089540	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089548	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089549	0.92[AFR][1000 genomes];1.00[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	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48432200-48498400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:48435200-48476200	Weak transcription	Stomach Mucosa	stomach
3	chr12:48437200-48489000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:48441400-48482600	Weak transcription	Small Intestine	intestine
5	chr12:48443000-48478800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:48444200-48474600	Weak transcription	Gastric	stomach
7	chr12:48452200-48469600	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:48452200-48470000	Strong transcription	Placenta	Placenta
9	chr12:48452400-48469600	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr12:48453000-48498200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:48453600-48469800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr12:48453600-48471200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:48453800-48474800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:48454000-48494000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:48454600-48478800	Weak transcription	Pancreas	Pancrea
16	chr12:48454800-48472000	Strong transcription	Dnd41	blood
17	chr12:48456200-48469600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:48457400-48482000	Weak transcription	Right Ventricle	heart
19	chr12:48457600-48478600	Weak transcription	HSMMtube	muscle
20	chr12:48459200-48479000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:48460800-48469800	Strong transcription	Primary T cells from cord blood	blood
22	chr12:48463000-48469600	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr12:48463000-48469800	Strong transcription	Primary B cells from cord blood	blood
24	chr12:48463600-48476200	Weak transcription	HUVEC	blood vessel
25	chr12:48464400-48476200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:48464600-48472600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:48464600-48489400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:48464800-48476000	Weak transcription	Fetal Brain Male	brain
29	chr12:48464800-48482400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:48465000-48474000	Weak transcription	Lung	lung
31	chr12:48465000-48474600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:48465000-48477000	Weak transcription	Brain Angular Gyrus	brain
33	chr12:48465000-48478800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:48465000-48478800	Weak transcription	Aorta	Aorta
35	chr12:48465000-48487400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr12:48465800-48476800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:48466200-48481400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr12:48466400-48472600	Weak transcription	Ovary	ovary
39	chr12:48466800-48470000	Weak transcription	Left Ventricle	heart
40	chr12:48466800-48472600	Weak transcription	Fetal Intestine Small	intestine
41	chr12:48466800-48472600	Weak transcription	Fetal Stomach	stomach
42	chr12:48466800-48478800	Weak transcription	Esophagus	oesophagus
43	chr12:48467200-48469600	Strong transcription	K562	blood
44	chr12:48468200-48472400	Weak transcription	NHLF	lung
45	chr12:48468200-48472600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:48468200-48472600	Weak transcription	Hela-S3	cervix
47	chr12:48468200-48476000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:48468200-48476000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:48468200-48476000	Weak transcription	HSMM	muscle
50	chr12:48468200-48478800	Weak transcription	HepG2	liver

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