Variant report

Variant	rs67299431
Chromosome Location	chr2:55099299-55099300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12467381	0.87[EUR][1000 genomes]
rs17046477	0.88[EUR][1000 genomes]
rs34121514	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36126551	0.92[EUR][1000 genomes]
rs4671987	0.84[EUR][1000 genomes]
rs4671988	0.87[EUR][1000 genomes]
rs4671989	0.90[EUR][1000 genomes]
rs4671990	0.90[EUR][1000 genomes]
rs4671991	0.90[EUR][1000 genomes]
rs60808665	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6707572	0.91[EUR][1000 genomes]
rs919669	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv1796192	chr2:55081033-55110969	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55068400-55109000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:55068600-55122400	Weak transcription	Brain Anterior Caudate	brain
3	chr2:55078800-55106800	Weak transcription	Brain Angular Gyrus	brain
4	chr2:55081400-55122400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:55087800-55126000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:55092400-55111000	Weak transcription	Pancreas	Pancrea
7	chr2:55095200-55148200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr2:55096600-55100200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:55098000-55100600	Enhancers	Fetal Muscle Leg	muscle
10	chr2:55098200-55100200	Enhancers	Psoas Muscle	Psoas
11	chr2:55098400-55100000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:55098400-55100400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:55098600-55100000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:55098600-55100000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:55098600-55100200	Enhancers	HSMM	muscle
16	chr2:55098600-55100200	Enhancers	NHDF-Ad	bronchial
17	chr2:55098600-55100400	Enhancers	A549	lung
18	chr2:55098600-55100600	Enhancers	Fetal Brain Male	brain
19	chr2:55098600-55100600	Enhancers	HepG2	liver
20	chr2:55098800-55100200	Enhancers	HSMMtube	muscle
21	chr2:55098800-55100600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr2:55099000-55099400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:55099000-55099400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:55099000-55099800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:55099000-55099800	Weak transcription	Fetal Brain Female	brain
26	chr2:55099000-55100200	Weak transcription	Liver	Liver
27	chr2:55099000-55101800	Enhancers	Pancreatic Islets	Pancreatic Islet

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