Variant report

Variant	rs74078731
Chromosome Location	chr12:40683598-40683599
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs17519832	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56701518	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57032064	1.00[AMR][1000 genomes]
rs57315777	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58793646	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60242724	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61606645	1.00[AMR][1000 genomes]
rs7314641	1.00[AMR][1000 genomes]
rs73263847	1.00[AMR][1000 genomes]
rs73263851	1.00[AMR][1000 genomes]
rs73263859	1.00[AMR][1000 genomes]
rs73263869	1.00[AMR][1000 genomes]
rs73263871	1.00[AMR][1000 genomes]
rs73267627	1.00[AMR][1000 genomes]
rs73268078	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73268087	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269827	1.00[AMR][1000 genomes]
rs73274845	1.00[AMR][1000 genomes]
rs73274869	1.00[AMR][1000 genomes]
rs73274870	1.00[AMR][1000 genomes]
rs73275726	1.00[AMR][1000 genomes]
rs73276871	1.00[AMR][1000 genomes]
rs73276887	1.00[AMR][1000 genomes]
rs73276892	1.00[AMR][1000 genomes]
rs73276895	1.00[AMR][1000 genomes]
rs73276896	1.00[AMR][1000 genomes]
rs73277541	1.00[AMR][1000 genomes]
rs73279548	1.00[AMR][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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40620800-40704200	Weak transcription	Esophagus	oesophagus
2	chr12:40622800-40708800	Weak transcription	Left Ventricle	heart
3	chr12:40630600-40686400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
5	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
6	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr12:40659400-40686400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:40659600-40694600	Weak transcription	Psoas Muscle	Psoas
9	chr12:40659600-40711200	Weak transcription	Aorta	Aorta
10	chr12:40661600-40683600	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:40661600-40696400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:40670400-40684000	Weak transcription	Brain Angular Gyrus	brain
13	chr12:40670800-40683600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:40673400-40713400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:40674400-40760400	Weak transcription	Lung	lung
16	chr12:40676000-40684600	Strong transcription	Primary B cells from cord blood	blood
17	chr12:40676400-40683600	Strong transcription	Primary B cells from peripheral blood	blood
18	chr12:40677000-40712200	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:40678800-40689400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:40679000-40696200	Weak transcription	Right Ventricle	heart
21	chr12:40679200-40699400	Weak transcription	Fetal Kidney	kidney
22	chr12:40680400-40692600	Weak transcription	Small Intestine	intestine
23	chr12:40680400-40709000	Weak transcription	Ovary	ovary
24	chr12:40680800-40683600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:40681000-40694200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:40681200-40763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:40682000-40694400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:40682200-40684000	ZNF genes & repeats	A549	lung
29	chr12:40682400-40683600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:40683000-40689200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:40683400-40683800	Weak transcription	Liver	Liver
32	chr12:40683400-40684000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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