Variant report

Variant	rs73360282
Chromosome Location	chr12:83289774-83289775
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11115350	1.00[AMR][1000 genomes]
rs11115351	1.00[AMR][1000 genomes]
rs11115354	1.00[AMR][1000 genomes]
rs11115361	1.00[AMR][1000 genomes]
rs11115379	1.00[AMR][1000 genomes]
rs11115382	1.00[AMR][1000 genomes]
rs12297818	1.00[AMR][1000 genomes]
rs12297858	1.00[AMR][1000 genomes]
rs12306643	1.00[AMR][1000 genomes]
rs12317170	1.00[AMR][1000 genomes]
rs12318452	1.00[AMR][1000 genomes]
rs12318675	1.00[AMR][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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83242200-83289800	Weak transcription	Stomach Mucosa	stomach
2	chr12:83274400-83304200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:83274600-83298400	Weak transcription	Brain Angular Gyrus	brain
4	chr12:83278200-83313400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:83279000-83289800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:83279000-83336400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:83281000-83306400	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:83282000-83295200	Weak transcription	Fetal Stomach	stomach
9	chr12:83282400-83291800	Weak transcription	Fetal Lung	lung
10	chr12:83282400-83294600	Weak transcription	Fetal Kidney	kidney
11	chr12:83285000-83290000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:83285000-83291400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:83286200-83292400	Weak transcription	Fetal Brain Female	brain
14	chr12:83287400-83292000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:83288000-83292200	Weak transcription	Fetal Heart	heart
16	chr12:83288200-83290600	Weak transcription	Adipose Nuclei	Adipose
17	chr12:83288400-83289800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr12:83288400-83292000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:83288400-83304200	Weak transcription	Fetal Muscle Leg	muscle
20	chr12:83288800-83289800	Weak transcription	Brain Anterior Caudate	brain
21	chr12:83289000-83292400	Weak transcription	Fetal Intestine Large	intestine
22	chr12:83289200-83289800	Weak transcription	Esophagus	oesophagus
23	chr12:83289600-83289800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:83289600-83289800	Active TSS	Brain Substantia Nigra	brain
25	chr12:83289600-83289800	Enhancers	Duodenum Mucosa	Duodenum
26	chr12:83289600-83289800	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr12:83289600-83290000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:83289600-83290000	ZNF genes & repeats	Ovary	ovary
29	chr12:83289600-83290200	Enhancers	Gastric	stomach
30	chr12:83289600-83290200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr12:83289600-83290600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr12:83289600-83293200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:83289600-83293200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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