Variant report

Variant	rs73089563
Chromosome Location	chr12:39206506-39206507
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10444549	0.87[AFR][1000 genomes]
rs10876185	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1095571	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11837377	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12422883	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12424244	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425783	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12427196	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17126713	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56989350	0.95[ASN][1000 genomes]
rs57950648	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58235891	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59843534	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60409162	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60863548	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61636003	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7138835	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73084040	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73084043	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73084050	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73084066	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73084068	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73089536	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73089574	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7309194	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315047	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7953319	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7954044	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs826836	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs826837	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs851931	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9943730	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv676	chr12:39184359-39215822	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	lncRNA	n/a	inside rSNPs	diseases
2	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39201200-39208000	Weak transcription	A549	lung
2	chr12:39201600-39208800	Weak transcription	Esophagus	oesophagus
3	chr12:39201800-39216600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:39203200-39213400	Weak transcription	Pancreas	Pancrea
5	chr12:39203200-39220200	Weak transcription	Psoas Muscle	Psoas
6	chr12:39203200-39276000	Weak transcription	Aorta	Aorta
7	chr12:39203600-39216800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:39204000-39284800	Weak transcription	Lung	lung
9	chr12:39204200-39213400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:39204200-39216800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:39204400-39209400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:39204800-39207200	Strong transcription	Stomach Smooth Muscle	stomach
13	chr12:39204800-39228800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:39204800-39231800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:39205000-39217000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:39205400-39206800	ZNF genes & repeats	GM12878-XiMat	blood
17	chr12:39205600-39206800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:39205600-39206800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:39205600-39206800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:39205600-39206800	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr12:39205600-39207200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr12:39205600-39223200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:39205600-39229400	Weak transcription	HMEC	breast
24	chr12:39205800-39206600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:39205800-39206600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:39205800-39206600	Strong transcription	Left Ventricle	heart
27	chr12:39205800-39206800	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:39205800-39207000	Strong transcription	Liver	Liver
29	chr12:39206000-39206600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr12:39206000-39216800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:39206200-39206800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
32	chr12:39206200-39206800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr12:39206400-39206600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:39206400-39206600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:39206400-39206600	Strong transcription	Ovary	ovary
36	chr12:39206400-39225800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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