Variant report

Variant	rs2807864
Chromosome Location	chr1:221067753-221067754
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2050525	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2784251	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2784253	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2784255	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2784271	0.96[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2784272	0.96[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2784274	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2807859	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2807860	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2807863	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2807865	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2807867	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs867027	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs945448	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs949839	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs949840	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv1798350	chr1:221020278-221069740	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221066200-221068000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
2	chr1:221066200-221068000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
3	chr1:221066200-221070000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:221066400-221068000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
5	chr1:221066600-221067800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
6	chr1:221066600-221068200	Active TSS	Right Atrium	heart
7	chr1:221067000-221067800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:221067000-221067800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
9	chr1:221067000-221067800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
10	chr1:221067000-221068000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:221067000-221068000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:221067000-221068000	Bivalent/Poised TSS	NHDF-Ad	bronchial
13	chr1:221067000-221068200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr1:221067000-221068400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
15	chr1:221067000-221068400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
16	chr1:221067200-221067800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
17	chr1:221067200-221067800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:221067200-221067800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:221067200-221067800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:221067200-221067800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
21	chr1:221067200-221067800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
22	chr1:221067200-221067800	Bivalent/Poised TSS	HepG2	liver
23	chr1:221067200-221067800	Flanking Bivalent TSS/Enh	HMEC	breast
24	chr1:221067200-221068000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:221067200-221068000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
26	chr1:221067200-221068000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:221067200-221068000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
28	chr1:221067200-221068000	Bivalent/Poised TSS	Aorta	Aorta
29	chr1:221067200-221068000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
30	chr1:221067200-221068000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
31	chr1:221067200-221068000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
32	chr1:221067200-221068000	Bivalent/Poised TSS	Psoas Muscle	Psoas
33	chr1:221067200-221068000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
34	chr1:221067200-221068000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
35	chr1:221067200-221068000	Active TSS	HSMM	muscle
36	chr1:221067200-221068000	Flanking Bivalent TSS/Enh	NH-A	brain
37	chr1:221067200-221068200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr1:221067200-221068200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr1:221067200-221068200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:221067200-221068200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:221067200-221068200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:221067200-221068200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
43	chr1:221067200-221068200	Flanking Active TSS	Pancreas	Pancrea
44	chr1:221067200-221068200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
45	chr1:221067200-221068400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:221067200-221068400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
47	chr1:221067200-221068400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
48	chr1:221067200-221068400	Bivalent/Poised TSS	NHEK	skin
49	chr1:221067400-221067800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:221067400-221067800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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