Variant report

Variant	rs57056104
Chromosome Location	chr12:45786887-45786888
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12578638	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17095779	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17095781	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17095835	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095858	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17095860	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17095861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17095862	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17095884	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17095890	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17095914	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17121366	0.94[ASN][1000 genomes]
rs3803177	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41338444	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4512918	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57160874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57455310	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58028140	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58152224	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58213849	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58282976	0.91[AFR][1000 genomes]
rs58940403	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60688397	1.00[AFR][1000 genomes]
rs60794282	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61276164	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61351713	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61484865	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74081808	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74081818	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74081821	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9788104	1.00[AFR][1000 genomes];0.88[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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:45752200-45803800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:45752200-45809200	Weak transcription	Small Intestine	intestine
4	chr12:45759000-45805200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:45759200-45822600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:45759400-45796200	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:45760600-45798000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:45763400-45796000	Weak transcription	Osteobl	bone
9	chr12:45764400-45802800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:45764400-45821000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:45764600-45815400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:45771200-45787000	Strong transcription	Adipose Nuclei	Adipose
13	chr12:45771200-45787000	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:45771200-45787200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:45772600-45815400	Weak transcription	K562	blood
16	chr12:45773400-45803800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr12:45773600-45795600	Weak transcription	Hela-S3	cervix
18	chr12:45774200-45794800	Weak transcription	NHDF-Ad	bronchial
19	chr12:45774800-45811400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:45775600-45787000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:45777200-45795600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:45778000-45795800	Weak transcription	NH-A	brain
23	chr12:45778800-45803400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr12:45779400-45794400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:45780400-45794400	Weak transcription	Fetal Heart	heart
26	chr12:45780400-45795400	Weak transcription	HSMM	muscle
27	chr12:45780400-45796800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr12:45780400-45829800	Weak transcription	Brain Anterior Caudate	brain
29	chr12:45780600-45794600	Weak transcription	HMEC	breast
30	chr12:45780600-45795600	Weak transcription	HSMMtube	muscle
31	chr12:45780800-45795600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:45780800-45802000	Weak transcription	Right Ventricle	heart
33	chr12:45782400-45794600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr12:45782400-45795600	Weak transcription	Fetal Kidney	kidney
35	chr12:45782400-45797200	Weak transcription	Aorta	Aorta
36	chr12:45783200-45818800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr12:45783400-45787800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:45783400-45826400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:45783600-45799800	Weak transcription	HepG2	liver
40	chr12:45783800-45787000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:45784000-45787000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr12:45784000-45795600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:45784400-45787000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:45784400-45787000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:45784400-45787000	Strong transcription	Fetal Lung	lung
46	chr12:45784400-45787000	Strong transcription	Fetal Muscle Trunk	muscle
47	chr12:45784600-45787000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:45784600-45787000	ZNF genes & repeats	Fetal Intestine Small	intestine
49	chr12:45784600-45787000	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr12:45784800-45794600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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