Variant report

Variant	rs6679291
Chromosome Location	chr1:221507564-221507565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10489951	0.96[ASN][1000 genomes]
rs10735499	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11118705	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11118706	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12084980	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3123736	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3131542	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3131543	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41349545	0.93[ASN][1000 genomes]
rs4517352	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4609434	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4846344	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6697087	0.86[ASN][1000 genomes]
rs72744240	0.86[ASN][1000 genomes]
rs72744253	0.86[ASN][1000 genomes]
rs72744259	0.89[ASN][1000 genomes]
rs72744270	0.96[ASN][1000 genomes]
rs72746037	0.89[ASN][1000 genomes]
rs72746040	0.89[ASN][1000 genomes]
rs72746060	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72746061	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72746075	0.89[ASN][1000 genomes]
rs731372	0.89[ASN][1000 genomes]
rs7548451	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7552266	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221506200-221509200	Enhancers	Lung	lung
2	chr1:221506400-221509000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr1:221506400-221509800	Enhancers	Fetal Stomach	stomach
4	chr1:221506600-221508200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:221506600-221509600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:221507000-221508000	Enhancers	Brain Hippocampus Middle	brain
7	chr1:221507000-221508000	Enhancers	Brain Substantia Nigra	brain
8	chr1:221507000-221508000	Enhancers	Hela-S3	cervix
9	chr1:221507000-221509200	Enhancers	Primary hematopoietic stem cells	blood
10	chr1:221507000-221510000	Enhancers	Ovary	ovary
11	chr1:221507200-221507600	Bivalent Enhancer	HUVEC	blood vessel
12	chr1:221507200-221508000	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr1:221507200-221508200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:221507200-221508800	Enhancers	Adipose Nuclei	Adipose
15	chr1:221507200-221508800	Enhancers	Rectal Smooth Muscle	rectum
16	chr1:221507200-221509000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:221507200-221509000	Enhancers	Spleen	Spleen
18	chr1:221507200-221509600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr1:221507200-221509600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr1:221507200-221509800	Enhancers	Brain Cingulate Gyrus	brain
21	chr1:221507200-221510000	Enhancers	Placenta	Placenta
22	chr1:221507200-221511000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:221507400-221507600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:221507400-221507600	Enhancers	Fetal Lung	lung
25	chr1:221507400-221507800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:221507400-221508000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:221507400-221508200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:221507400-221508600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr1:221507400-221510600	Enhancers	Colon Smooth Muscle	Colon

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