Variant report

Variant	rs12315590
Chromosome Location	chr12:83434314-83434315
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10506888	0.84[EUR][1000 genomes]
rs11115559	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11829960	0.82[EUR][1000 genomes]
rs11832231	0.81[EUR][1000 genomes]
rs11832789	0.82[EUR][1000 genomes]
rs17010538	0.82[EUR][1000 genomes]
rs17010563	0.82[EUR][1000 genomes]
rs17010565	0.82[EUR][1000 genomes]
rs17010567	0.82[EUR][1000 genomes]
rs17010576	0.84[EUR][1000 genomes]
rs17010577	0.82[EUR][1000 genomes]
rs17010580	0.82[EUR][1000 genomes]
rs17010586	0.82[EUR][1000 genomes]
rs2033576	0.81[EUR][1000 genomes]
rs7304787	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv559557	chr12:83334204-83453620	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	nsv1047239	chr12:83362299-83444855	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83405000-83436200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:83411000-83435800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:83417600-83435800	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:83419000-83468000	Weak transcription	Fetal Stomach	stomach
5	chr12:83423600-83446200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:83423600-83448800	Weak transcription	Brain Substantia Nigra	brain
7	chr12:83425400-83440600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:83428400-83439800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:83428600-83443000	Weak transcription	Fetal Lung	lung
10	chr12:83431000-83435000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:83431400-83435400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:83433200-83434400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:83433400-83435000	Enhancers	Colon Smooth Muscle	Colon
14	chr12:83433600-83434400	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr12:83434000-83435000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:83434200-83436000	Weak transcription	Fetal Brain Male	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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