Variant report

Variant	rs73102746
Chromosome Location	chr12:40689889-40689890
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10506152	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11175766	0.91[EUR][1000 genomes]
rs11175780	0.96[EUR][1000 genomes]
rs11564129	0.94[EUR][1000 genomes]
rs11564149	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11564150	0.97[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs11564180	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17444089	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17466178	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17466185	0.96[EUR][1000 genomes]
rs17466486	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17466521	0.85[ASN][1000 genomes]
rs17490796	0.88[AFR][1000 genomes]
rs17490872	0.85[AFR][1000 genomes]
rs17519825	0.88[AFR][1000 genomes]
rs17519881	0.97[EUR][1000 genomes]
rs2046928	0.93[EUR][1000 genomes]
rs41286474	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4423250	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7132073	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7971935	0.98[EUR][1000 genomes]
rs7975730	0.88[AFR][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:30 , 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	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
4	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
5	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr12:40659600-40694600	Weak transcription	Psoas Muscle	Psoas
7	chr12:40659600-40711200	Weak transcription	Aorta	Aorta
8	chr12:40661600-40696400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:40673400-40713400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:40674400-40760400	Weak transcription	Lung	lung
11	chr12:40677000-40712200	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:40679000-40696200	Weak transcription	Right Ventricle	heart
13	chr12:40679200-40699400	Weak transcription	Fetal Kidney	kidney
14	chr12:40680400-40692600	Weak transcription	Small Intestine	intestine
15	chr12:40680400-40709000	Weak transcription	Ovary	ovary
16	chr12:40681000-40694200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:40681200-40763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:40682000-40694400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:40684000-40697800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:40684000-40722600	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:40684000-40722600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr12:40684000-40725000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:40687200-40765000	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr12:40687400-40691000	Strong transcription	Primary B cells from cord blood	blood
25	chr12:40688800-40691400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr12:40689000-40692000	Strong transcription	Liver	Liver
27	chr12:40689000-40692400	Strong transcription	Adipose Nuclei	Adipose
28	chr12:40689200-40690400	Strong transcription	Stomach Smooth Muscle	stomach
29	chr12:40689400-40690000	Genic enhancers	A549	lung
30	chr12:40689800-40694600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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