Variant report

Variant	rs12329068
Chromosome Location	chr2:48635450-48635451
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10164456	1.00[AMR][1000 genomes]
rs10165262	1.00[AMR][1000 genomes]
rs10167097	1.00[AMR][1000 genomes]
rs10168301	1.00[AMR][1000 genomes]
rs10169977	1.00[AMR][1000 genomes]
rs10170181	1.00[AMR][1000 genomes]
rs10177012	1.00[AMR][1000 genomes]
rs10178938	1.00[AMR][1000 genomes]
rs10180159	1.00[AMR][1000 genomes]
rs10183526	1.00[AMR][1000 genomes]
rs10184942	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10187019	1.00[AMR][1000 genomes]
rs10197056	1.00[AMR][1000 genomes]
rs10198245	1.00[AMR][1000 genomes]
rs10199098	1.00[AMR][1000 genomes]
rs10199615	1.00[AMR][1000 genomes]
rs10199764	1.00[AMR][1000 genomes]
rs10200180	1.00[AMR][1000 genomes]
rs10204343	1.00[AMR][1000 genomes]
rs10206551	1.00[AMR][1000 genomes]
rs10208042	1.00[AMR][1000 genomes]
rs12328834	1.00[AMR][1000 genomes]
rs13390201	1.00[AMR][1000 genomes]
rs13391880	1.00[AMR][1000 genomes]
rs13396735	1.00[AMR][1000 genomes]
rs13399261	1.00[AMR][1000 genomes]
rs13402261	1.00[AMR][1000 genomes]
rs13408747	1.00[AMR][1000 genomes]
rs13410143	1.00[AMR][1000 genomes]
rs13418349	1.00[AMR][1000 genomes]
rs13422341	1.00[AMR][1000 genomes]
rs13424478	1.00[AMR][1000 genomes]
rs13432235	1.00[AMR][1000 genomes]
rs28623311	1.00[AMR][1000 genomes]
rs28775335	1.00[AMR][1000 genomes]
rs28784960	1.00[AMR][1000 genomes]
rs28893847	1.00[AMR][1000 genomes]
rs7340280	1.00[AMR][1000 genomes]
rs7355330	1.00[AMR][1000 genomes]
rs9653522	1.00[AMR][1000 genomes]
rs9653523	1.00[AMR][1000 genomes]
rs9653524	1.00[AMR][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:9 , 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	chr2:48635400-48635600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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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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