Variant report

Variant	rs73281536
Chromosome Location	chr12:45764450-45764451
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs11183016	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11543435	0.80[AFR][1000 genomes]
rs35213944	0.80[AFR][1000 genomes]
rs57266792	0.84[AFR][1000 genomes]
rs58337263	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58640880	0.80[AFR][1000 genomes]
rs59030619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59846961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59899152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60534803	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61471266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281407	0.80[AFR][1000 genomes]
rs73281412	0.80[AFR][1000 genomes]
rs73281450	0.84[AFR][1000 genomes]
rs73281506	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281507	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281508	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281553	1.00[AFR][1000 genomes]
rs73281555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281585	1.00[AFR][1000 genomes]
rs73281588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281599	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281602	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283310	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283315	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283320	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283323	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283338	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283340	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283345	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283347	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283352	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283355	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283357	0.88[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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
2	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:45745000-45779800	Weak transcription	Gastric	stomach
4	chr12:45745400-45773000	Weak transcription	Hela-S3	cervix
5	chr12:45745600-45785600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:45750000-45771400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:45750000-45772200	Weak transcription	K562	blood
8	chr12:45752200-45803800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:45752200-45809200	Weak transcription	Small Intestine	intestine
10	chr12:45758000-45772600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:45758200-45771000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr12:45759000-45805200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:45759200-45773800	Weak transcription	Fetal Lung	lung
14	chr12:45759200-45774000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:45759200-45822600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:45759400-45796200	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:45759600-45772200	Weak transcription	Fetal Heart	heart
18	chr12:45759800-45776200	Weak transcription	Psoas Muscle	Psoas
19	chr12:45760200-45785600	Weak transcription	Esophagus	oesophagus
20	chr12:45760400-45771600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:45760600-45785800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:45760600-45798000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:45761200-45764800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:45761600-45764800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:45761800-45764600	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:45761800-45764800	Strong transcription	Primary B cells from cord blood	blood
27	chr12:45761800-45764800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:45762000-45764600	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:45762000-45764600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr12:45762000-45764600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:45762000-45764600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:45762000-45764600	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:45762000-45764800	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr12:45762000-45764800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:45762000-45764800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:45762000-45764800	Strong transcription	Adipose Nuclei	Adipose
37	chr12:45762000-45764800	Strong transcription	Left Ventricle	heart
38	chr12:45762200-45764600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:45762200-45764600	Strong transcription	Primary T cells from cord blood	blood
40	chr12:45762200-45764600	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:45762200-45764800	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:45762200-45764800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr12:45762200-45764800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:45762200-45764800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:45762200-45764800	Strong transcription	Liver	Liver
46	chr12:45762200-45764800	Strong transcription	Fetal Muscle Leg	muscle
47	chr12:45762200-45764800	Strong transcription	Right Ventricle	heart
48	chr12:45762400-45764600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:45762400-45764800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:45762600-45764600	Strong transcription	NHEK	skin

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