Variant report

Variant	rs72899468
Chromosome Location	chr2:187817006-187817007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10174908	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10931266	1.00[EUR][1000 genomes]
rs13419039	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13422204	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13427603	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13427827	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28564212	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72899454	0.91[EUR][1000 genomes]
rs72899476	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72899483	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901418	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72901421	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72901466	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7593908	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593919	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594512	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv528437	chr2:187778830-187907901	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv999207	chr2:187787121-187924667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv536084	chr2:187787121-187924667	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv528930	chr2:187808330-187832004	Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187809400-187826800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:187816400-187817200	Enhancers	Fetal Thymus	thymus
3	chr2:187816600-187817200	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:187816600-187817200	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr2:187816600-187817200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:187816600-187817200	Enhancers	Liver	Liver
7	chr2:187816600-187817200	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr2:187816600-187817200	Flanking Active TSS	HUVEC	blood vessel
9	chr2:187816600-187817200	Flanking Active TSS	K562	blood
10	chr2:187816600-187821200	Weak transcription	NH-A	brain
11	chr2:187816800-187817200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr2:187816800-187817400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:187816800-187817400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr2:187817000-187817200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr2:187817000-187817200	Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr2:187817000-187817200	Enhancers	Adipose Nuclei	Adipose
17	chr2:187817000-187817200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr2:187817000-187817400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:187817000-187821200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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