Variant report

Variant	rs9996312
Chromosome Location	chr4:88285222-88285223
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10009871	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10025212	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10222732	0.81[ASN][1000 genomes]
rs28709117	0.81[ASN][1000 genomes]
rs6531978	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6531981	0.80[AFR][1000 genomes]
rs6857133	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7671900	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7679024	0.91[ASN][1000 genomes]
rs9991773	0.91[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	nsv870296	chr4:88173534-88295927	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1004518	chr4:88218473-88354403	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88254800-88311800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:88255000-88292400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:88255200-88285600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr4:88255200-88293800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:88256200-88292800	Weak transcription	Gastric	stomach
6	chr4:88256200-88310600	Weak transcription	Right Ventricle	heart
7	chr4:88257000-88291000	Weak transcription	HUVEC	blood vessel
8	chr4:88257800-88311800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:88258000-88285400	Weak transcription	Small Intestine	intestine
10	chr4:88264200-88285600	Weak transcription	Spleen	Spleen
11	chr4:88266400-88292200	Weak transcription	Fetal Brain Male	brain
12	chr4:88266600-88288200	Weak transcription	Brain Germinal Matrix	brain
13	chr4:88267400-88290600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr4:88267400-88308000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:88267600-88292400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:88267800-88306000	Weak transcription	Fetal Brain Female	brain
17	chr4:88268000-88292200	Weak transcription	Ovary	ovary
18	chr4:88271200-88298000	Weak transcription	HSMMtube	muscle
19	chr4:88273000-88292200	Weak transcription	Brain Substantia Nigra	brain
20	chr4:88273400-88298800	Weak transcription	Fetal Heart	heart
21	chr4:88274200-88288200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:88274200-88296200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr4:88274400-88286800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:88274400-88286800	Strong transcription	HepG2	liver
25	chr4:88274400-88296400	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr4:88274400-88297000	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr4:88274400-88303400	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr4:88274600-88287200	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr4:88274600-88288000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:88274600-88296200	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr4:88274600-88296400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr4:88274600-88296600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:88274600-88297200	Strong transcription	Fetal Intestine Large	intestine
34	chr4:88274800-88296400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:88274800-88298200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr4:88275200-88292200	Weak transcription	Brain Hippocampus Middle	brain
37	chr4:88275200-88292400	Weak transcription	GM12878-XiMat	blood
38	chr4:88275200-88296200	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr4:88275200-88299400	Strong transcription	Dnd41	blood
40	chr4:88276000-88292400	Weak transcription	NHDF-Ad	bronchial
41	chr4:88276200-88286600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:88276200-88292400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr4:88276200-88292600	Weak transcription	NHLF	lung
44	chr4:88276200-88296000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:88276200-88311400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:88276400-88285600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr4:88276400-88292200	Weak transcription	Osteobl	bone
48	chr4:88276400-88292400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:88276400-88295800	Weak transcription	HMEC	breast
50	chr4:88276400-88302800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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