Variant report

Variant	rs207448
Chromosome Location	chr2:31566022-31566023
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs207430	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs207433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs207436	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs207439	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs207441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs207442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs207444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs207449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs207450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs207451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs207452	1.00[AMR][1000 genomes];0.97[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	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv949028	chr2:31502801-31665108	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv2762446	chr2:31521093-31610311	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv3361349	chr2:31565348-31567796	Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31548000-31634600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:31557200-31579600	Strong transcription	Liver	Liver
3	chr2:31558200-31573200	Strong transcription	Fetal Intestine Large	intestine
4	chr2:31560400-31576800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:31560800-31570800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:31560800-31599800	Weak transcription	Esophagus	oesophagus
7	chr2:31561200-31569800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:31561600-31570400	Weak transcription	NHLF	lung
9	chr2:31563800-31572800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:31563800-31576600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:31564400-31567200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:31564400-31579600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:31564600-31567200	Weak transcription	Fetal Intestine Small	intestine
14	chr2:31564600-31573200	Strong transcription	HMEC	breast
15	chr2:31565000-31573600	Strong transcription	NHEK	skin
16	chr2:31565200-31569400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:31565200-31633000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:31565600-31567200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:31565600-31572200	Weak transcription	Placenta	Placenta

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Input of quick search could be:

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

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