Variant report

Variant	rs4454527
Chromosome Location	chr1:192128183-192128184
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10801098	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10921104	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1175174	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1175175	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1175177	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12141770	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16834097	0.88[ASN][1000 genomes]
rs1937236	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2247352	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2247482	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4077238	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4276895	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4276896	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4329489	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6690728	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9660001	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][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	nsv1007060	chr1:191577303-192141825	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv430047	chr1:191811587-192203678	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr1:192126800-192128600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr1:192126800-192130000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:192127000-192129600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:192127200-192134200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:192127400-192128400	Enhancers	Primary T cells from cord blood	blood
6	chr1:192127400-192128600	Flanking Active TSS	Dnd41	blood
7	chr1:192127400-192129600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:192127400-192129600	Active TSS	Monocytes-CD14+_RO01746	blood
9	chr1:192127600-192129000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr1:192127600-192129200	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr1:192127600-192129200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:192127600-192129600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:192127600-192129600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:192127600-192129800	Active TSS	Primary monocytes fromperipheralblood	blood
15	chr1:192127800-192128400	Active TSS	Brain Hippocampus Middle	brain
16	chr1:192127800-192128400	Active TSS	Duodenum Mucosa	Duodenum
17	chr1:192127800-192130600	Active TSS	Primary B cells from cord blood	blood
18	chr1:192128000-192128400	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr1:192128000-192130400	Active TSS	Primary hematopoietic stem cells short term culture	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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