Variant report

Variant	rs312400
Chromosome Location	chr1:84982986-84982987
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1246156	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1246256	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1911157	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2135552	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2659168	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2911587	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2911596	1.00[AMR][1000 genomes]
rs2945154	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2945157	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2945159	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2994952	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3096444	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs312396	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs312402	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7511674	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][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	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 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	chr1:84973000-85003200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:84973200-85003200	Weak transcription	Adipose Nuclei	Adipose
3	chr1:84973400-84991600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:84973400-84993800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:84973400-84994400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:84973400-84995200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:84973400-85002000	Weak transcription	Primary T cells from cord blood	blood
8	chr1:84973600-84984600	Weak transcription	Fetal Heart	heart
9	chr1:84974200-84991400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr1:84975200-85019600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:84975800-85030200	Weak transcription	Fetal Intestine Small	intestine
12	chr1:84977600-84991600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:84979600-84994400	Weak transcription	Primary B cells from cord blood	blood
14	chr1:84981600-85012200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:84982400-85026800	Weak transcription	Primary hematopoietic stem cells	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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