Variant report

Variant	rs2912322
Chromosome Location	chr18:28816268-28816269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2217075	0.93[EUR][1000 genomes]
rs2912316	0.80[CEU][hapmap];0.93[TSI][hapmap]
rs2912320	0.92[EUR][1000 genomes]
rs2912323	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3360998	chr18:28693111-28881812	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28814000-28822400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr18:28814200-28816600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr18:28814200-28818000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr18:28814200-28820400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr18:28814200-28820600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:28814200-28820600	Weak transcription	Pancreas	Pancrea
7	chr18:28814200-28820800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr18:28814200-28821400	Weak transcription	Fetal Kidney	kidney
9	chr18:28814400-28818200	Weak transcription	Fetal Heart	heart
10	chr18:28814400-28818200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr18:28814400-28820400	Weak transcription	HMEC	breast
12	chr18:28814400-28820800	Weak transcription	A549	lung
13	chr18:28815000-28820400	Weak transcription	HepG2	liver
14	chr18:28815600-28816400	Enhancers	Fetal Intestine Large	intestine
15	chr18:28816000-28816400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr18:28816000-28816400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr18:28816000-28818000	Weak transcription	Fetal Intestine Small	intestine

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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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