Variant report

Variant	rs2594274
Chromosome Location	chr4:87825084-87825085
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10011798	0.98[EUR][1000 genomes]
rs10015121	0.98[EUR][1000 genomes]
rs10021020	0.97[EUR][1000 genomes]
rs10034336	0.97[EUR][1000 genomes]
rs11097123	0.87[EUR][1000 genomes]
rs11097125	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12503045	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12507165	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12641570	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13120981	0.97[EUR][1000 genomes]
rs1374935	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1868244	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2012345	0.97[ASN][1000 genomes]
rs2121871	0.97[EUR][1000 genomes]
rs2594283	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2705629	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28446826	0.86[EUR][1000 genomes]
rs2904148	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2904150	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35428486	0.95[EUR][1000 genomes]
rs4235082	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55889191	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56062410	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67758970	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6823051	0.97[EUR][1000 genomes]
rs6843070	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6846822	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv508297	chr4:87778783-87868508	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87814000-87825200	Weak transcription	Left Ventricle	heart
2	chr4:87814200-87825200	Weak transcription	Right Ventricle	heart
3	chr4:87814200-87825200	Weak transcription	A549	lung
4	chr4:87814200-87829400	Weak transcription	K562	blood
5	chr4:87814400-87825200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:87814400-87825200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:87814600-87825200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:87814600-87830000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:87822000-87825200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:87822400-87829800	Weak transcription	Placenta	Placenta
11	chr4:87824800-87825400	Active TSS	Stomach Smooth Muscle	stomach
12	chr4:87825000-87825200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:87825000-87825200	Active TSS	Primary hematopoietic stem cells	blood
14	chr4:87825000-87825200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:87825000-87825200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:87825000-87825200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:87825000-87825200	Enhancers	Colonic Mucosa	Colon
18	chr4:87825000-87825200	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr4:87825000-87825200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr4:87825000-87825200	Enhancers	Fetal Thymus	thymus
21	chr4:87825000-87825200	Enhancers	Lung	lung
22	chr4:87825000-87825200	Enhancers	HMEC	breast
23	chr4:87825000-87825200	Active TSS	Monocytes-CD14+_RO01746	blood
24	chr4:87825000-87825200	Enhancers	NH-A	brain
25	chr4:87825000-87825400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr4:87825000-87825400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr4:87825000-87825400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:87825000-87825600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr4:87825000-87825600	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr4:87825000-87825600	Active TSS	Osteobl	bone
31	chr4:87825000-87825800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
32	chr4:87825000-87825800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:87825000-87825800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:87825000-87825800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr4:87825000-87825800	Active TSS	Primary B cells from cord blood	blood
36	chr4:87825000-87825800	Active TSS	Primary T cells from cord blood	blood
37	chr4:87825000-87825800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:87825000-87825800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:87825000-87825800	Active TSS	Brain Angular Gyrus	brain
40	chr4:87825000-87825800	Active TSS	Brain Anterior Caudate	brain
41	chr4:87825000-87825800	Active TSS	Brain Cingulate Gyrus	brain
42	chr4:87825000-87825800	Active TSS	Brain Hippocampus Middle	brain
43	chr4:87825000-87825800	Active TSS	Brain Substantia Nigra	brain
44	chr4:87825000-87825800	Active TSS	Colon Smooth Muscle	Colon
45	chr4:87825000-87825800	Active TSS	Duodenum Mucosa	Duodenum
46	chr4:87825000-87825800	Active TSS	Esophagus	oesophagus
47	chr4:87825000-87825800	Active TSS	Fetal Intestine Small	intestine
48	chr4:87825000-87825800	Active TSS	Fetal Kidney	kidney
49	chr4:87825000-87825800	Active TSS	Fetal Lung	lung
50	chr4:87825000-87825800	Active TSS	Ovary	ovary

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