Variant report

Variant	rs7583717
Chromosome Location	chr2:48639019-48639020
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17037329	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17397442	0.82[EUR][1000 genomes]
rs28581888	0.89[AFR][1000 genomes]
rs59217824	0.88[AFR][1000 genomes]
rs60050318	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60059816	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61592994	0.86[AFR][1000 genomes]
rs62137020	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62137023	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62137026	0.87[AMR][1000 genomes]
rs62137039	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62137044	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67567718	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72820456	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72889649	0.86[AFR][1000 genomes]
rs72889654	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv518718	chr2:48624007-48650308	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48628200-48640000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:48634000-48641400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:48634400-48641800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:48634600-48640200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:48634600-48641400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:48634600-48642200	Weak transcription	Small Intestine	intestine
7	chr2:48635000-48640000	Weak transcription	Fetal Intestine Large	intestine
8	chr2:48635200-48640000	Weak transcription	Fetal Intestine Small	intestine
9	chr2:48635600-48641400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:48636400-48639400	Weak transcription	NHDF-Ad	bronchial
11	chr2:48636400-48640000	Enhancers	Adipose Nuclei	Adipose
12	chr2:48637200-48642200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:48637600-48639200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:48637600-48639200	Enhancers	Fetal Muscle Trunk	muscle
15	chr2:48637800-48640000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:48637800-48642400	Weak transcription	A549	lung
17	chr2:48638200-48640000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:48638200-48642200	Weak transcription	Left Ventricle	heart
19	chr2:48638400-48639400	Weak transcription	Fetal Stomach	stomach
20	chr2:48638400-48639400	Weak transcription	HepG2	liver
21	chr2:48638400-48639600	Weak transcription	Liver	Liver
22	chr2:48638400-48640000	Weak transcription	Ovary	ovary
23	chr2:48638400-48640000	Weak transcription	Spleen	Spleen
24	chr2:48638400-48641800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:48638400-48641800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:48638400-48642400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:48638400-48643400	Weak transcription	Gastric	stomach
28	chr2:48638600-48639400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:48638600-48639600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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