Variant report

Variant	rs2110448
Chromosome Location	chr12:9943551-9943552
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:11)

rs_ID	r²[population]
rs10772147	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11053116	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12301753	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2401400	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2401401	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4763931	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763932	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763935	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488204	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966635	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975116	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	esv3377937	chr12:9938734-9962518	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9928400-9945400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:9930000-9945400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:9930200-9945800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:9939000-9945200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:9939800-9943600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:9939800-9943800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:9939800-9945000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:9940600-9945000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:9940600-9945000	Weak transcription	NH-A	brain
10	chr12:9940600-9945400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:9940800-9945200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:9941000-9946200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:9941000-9950200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:9941200-9945200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:9943400-9944200	Enhancers	Primary B cells from peripheral blood	blood

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

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