Variant report

Variant	rs17010128
Chromosome Location	chr12:83316876-83316877
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10746259	0.90[ASN][1000 genomes]
rs10746261	0.89[ASN][1000 genomes]
rs10862524	0.91[ASN][1000 genomes]
rs11115492	0.92[ASN][1000 genomes]
rs11115495	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12297736	1.00[EUR][1000 genomes]
rs12320912	1.00[EUR][1000 genomes]
rs12809082	0.93[ASN][1000 genomes]
rs1484991	0.82[ASN][1000 genomes]
rs17010139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010268	1.00[EUR][1000 genomes]
rs2019384	0.85[ASN][1000 genomes]
rs34176101	0.93[ASN][1000 genomes]
rs34376734	0.93[ASN][1000 genomes]
rs35800218	0.93[ASN][1000 genomes]
rs71450913	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv2758315	chr12:83101045-83357621	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2759911	chr12:83101045-83357621	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv832472	chr12:83248283-83419753	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83279000-83336400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:83293200-83324200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:83305800-83336800	Weak transcription	Fetal Stomach	stomach
4	chr12:83307200-83324200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr12:83307800-83336800	Weak transcription	Fetal Lung	lung
6	chr12:83308000-83317400	Weak transcription	Fetal Intestine Large	intestine
7	chr12:83309800-83323200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr12:83313400-83317000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:83313400-83317800	Weak transcription	Brain Angular Gyrus	brain
10	chr12:83313800-83317800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:83313800-83321000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:83313800-83322800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:83313800-83324200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:83314600-83317800	Weak transcription	Brain Substantia Nigra	brain
15	chr12:83316600-83317000	Enhancers	Brain Cingulate Gyrus	brain
16	chr12:83316600-83328800	Weak transcription	Pancreas	Pancrea
17	chr12:83316800-83317000	Enhancers	Colon Smooth Muscle	Colon
18	chr12:83316800-83324200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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