Variant report

Variant	rs7584654
Chromosome Location	chr2:55098973-55098974
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs15029	1.00[EUR][1000 genomes]
rs17046509	1.00[EUR][1000 genomes]
rs17046510	1.00[EUR][1000 genomes]
rs1992615	1.00[EUR][1000 genomes]
rs4254542	1.00[EUR][1000 genomes]
rs57207110	1.00[EUR][1000 genomes]
rs60110568	1.00[EUR][1000 genomes]
rs6718315	1.00[EUR][1000 genomes]
rs6729675	1.00[EUR][1000 genomes]
rs6747990	1.00[EUR][1000 genomes]
rs72910826	1.00[EUR][1000 genomes]
rs72910837	1.00[EUR][1000 genomes]
rs72910854	1.00[EUR][1000 genomes]
rs72917588	1.00[EUR][1000 genomes]
rs7559999	1.00[EUR][1000 genomes]
rs7571562	1.00[EUR][1000 genomes]
rs7576504	1.00[EUR][1000 genomes]
rs7585495	1.00[EUR][1000 genomes]
rs7607946	1.00[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:28 , 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	chr2:55098400-55099000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr2:55098400-55100000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:55098400-55100400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr2:55098600-55099000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr2:55098600-55100000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:55098600-55100000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:55098600-55100200	Enhancers	HSMM	muscle
18	chr2:55098600-55100200	Enhancers	NHDF-Ad	bronchial
19	chr2:55098600-55100400	Enhancers	A549	lung
20	chr2:55098600-55100600	Enhancers	Fetal Brain Male	brain
21	chr2:55098600-55100600	Enhancers	HepG2	liver
22	chr2:55098800-55099000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:55098800-55099000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:55098800-55099000	Enhancers	Liver	Liver
25	chr2:55098800-55099000	Enhancers	Fetal Brain Female	brain
26	chr2:55098800-55099000	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr2:55098800-55100200	Enhancers	HSMMtube	muscle
28	chr2:55098800-55100600	Enhancers	Skeletal Muscle Male	skeletal muscle

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