Variant report

Variant	rs73080590
Chromosome Location	chr5:40627330-40627331
allele	C/G
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]
rs12186529	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12651829	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12656010	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1395085	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28544515	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4466213	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60730012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6861121	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6877753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6892418	0.98[ASN][1000 genomes]
rs7734916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv880993	chr5:40521648-40682550	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40620000-40627600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:40620800-40634200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:40621000-40627600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:40622400-40628200	Weak transcription	Adipose Nuclei	Adipose
5	chr5:40622600-40627400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:40622600-40627400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:40622600-40627800	Weak transcription	NHDF-Ad	bronchial
8	chr5:40622800-40627400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr5:40622800-40627400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:40622800-40627400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr5:40622800-40627800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr5:40623200-40627600	Weak transcription	HSMM	muscle
13	chr5:40623800-40628600	Weak transcription	Small Intestine	intestine
14	chr5:40624800-40628200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:40624800-40634200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr5:40625000-40628000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr5:40625000-40630200	Weak transcription	Dnd41	blood
18	chr5:40625600-40628400	Weak transcription	Primary T cells from cord blood	blood
19	chr5:40627200-40628800	Enhancers	HSMMtube	muscle

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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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