Variant report

Variant	rs7488873
Chromosome Location	chr12:40674594-40674595
allele	C/T
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:49)

rs_ID	r²[population]
rs10467144	0.85[ASN][1000 genomes]
rs10735931	0.86[ASN][1000 genomes]
rs10748029	0.85[ASN][1000 genomes]
rs10748030	0.86[ASN][1000 genomes]
rs10748033	0.86[ASN][1000 genomes]
rs10748034	0.86[ASN][1000 genomes]
rs10784486	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10784501	0.86[ASN][1000 genomes]
rs10784503	0.86[ASN][1000 genomes]
rs10784504	0.86[ASN][1000 genomes]
rs10784506	0.86[ASN][1000 genomes]
rs10784509	0.86[ASN][1000 genomes]
rs10878290	0.83[ASN][1000 genomes]
rs10878358	0.85[ASN][1000 genomes]
rs10878368	0.86[ASN][1000 genomes]
rs10878371	0.86[ASN][1000 genomes]
rs10878377	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11176013	0.86[ASN][1000 genomes]
rs1427263	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1427264	0.86[ASN][1000 genomes]
rs1427265	0.86[ASN][1000 genomes]
rs1427266	0.86[ASN][1000 genomes]
rs1427267	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1896252	0.86[ASN][1000 genomes]
rs1896254	0.86[ASN][1000 genomes]
rs2114568	0.86[ASN][1000 genomes]
rs2114569	0.86[ASN][1000 genomes]
rs2162469	0.86[ASN][1000 genomes]
rs2896975	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4310676	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4483664	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4767969	0.86[ASN][1000 genomes]
rs4768224	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4768227	0.86[ASN][1000 genomes]
rs4768229	0.86[ASN][1000 genomes]
rs7137160	0.85[ASN][1000 genomes]
rs7137665	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs721709	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs721711	0.86[ASN][1000 genomes]
rs721712	0.86[ASN][1000 genomes]
rs721713	0.86[ASN][1000 genomes]
rs7298930	0.86[ASN][1000 genomes]
rs7302503	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7305344	0.87[ASN][1000 genomes]
rs7307276	0.86[ASN][1000 genomes]
rs7308193	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7957057	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7979341	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs963243	0.85[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	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1042967	chr12:40629636-40710319	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40619600-40678400	Weak transcription	Right Ventricle	heart
2	chr12:40620800-40704200	Weak transcription	Esophagus	oesophagus
3	chr12:40622800-40708800	Weak transcription	Left Ventricle	heart
4	chr12:40630600-40686400	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:40640200-40680400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
7	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
8	chr12:40642200-40682400	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr12:40659400-40677800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:40659400-40678600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:40659400-40678600	Weak transcription	Ovary	ovary
13	chr12:40659400-40682200	Weak transcription	Brain Anterior Caudate	brain
14	chr12:40659400-40686400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:40659600-40677000	Weak transcription	A549	lung
16	chr12:40659600-40680000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:40659600-40680200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:40659600-40694600	Weak transcription	Psoas Muscle	Psoas
19	chr12:40659600-40711200	Weak transcription	Aorta	Aorta
20	chr12:40661000-40683400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr12:40661600-40683600	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:40661600-40696400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:40667400-40678400	Weak transcription	Fetal Kidney	kidney
24	chr12:40670000-40674600	Strong transcription	Liver	Liver
25	chr12:40670400-40684000	Weak transcription	Brain Angular Gyrus	brain
26	chr12:40670800-40683600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:40671200-40681600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:40671800-40674600	Weak transcription	Fetal Stomach	stomach
29	chr12:40672600-40677200	Weak transcription	Adipose Nuclei	Adipose
30	chr12:40672800-40681000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:40673400-40713400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:40674200-40676400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr12:40674200-40677000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:40674400-40676000	Weak transcription	Primary B cells from cord blood	blood
35	chr12:40674400-40760400	Weak transcription	Lung	lung

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