Variant report

Variant	rs2417583
Chromosome Location	chr12:10388085-10388086
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs4237964	1.00[AFR][1000 genomes]
rs4600303	0.92[AFR][1000 genomes]
rs4763467	0.92[AFR][1000 genomes]
rs4764338	1.00[AFR][1000 genomes]
rs4764343	0.92[AFR][1000 genomes]
rs6488276	1.00[AFR][1000 genomes]
rs7296341	0.92[AFR][1000 genomes]
rs7303920	0.92[AFR][1000 genomes]
rs7972029	0.92[AFR][1000 genomes]
rs7975861	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1054811	chr12:10350587-10440005	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10376400-10388600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr12:10376400-10395000	Weak transcription	Pancreas	Pancrea
3	chr12:10376400-10397600	Weak transcription	Aorta	Aorta
4	chr12:10377200-10389000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr12:10377200-10394200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:10377200-10394600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:10377200-10399000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:10377800-10404400	Weak transcription	Left Ventricle	heart
9	chr12:10380200-10395800	Weak transcription	Thymus	Thymus
10	chr12:10387200-10396800	Weak transcription	Liver	Liver
11	chr12:10387400-10389800	Weak transcription	Placenta	Placenta
12	chr12:10387400-10390000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:10387400-10392000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:10387800-10388400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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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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