Variant report

Variant	rs16921483
Chromosome Location	chr8:57878314-57878315
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10003	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1044731	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10504211	0.84[CEU][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes]
rs10504212	0.84[CEU][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes]
rs10504213	0.80[ASN][1000 genomes]
rs1057409	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10958511	0.81[ASN][1000 genomes]
rs10958514	0.83[CEU][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes]
rs10958515	0.84[CEU][hapmap];0.88[YRI][hapmap]
rs11777431	0.81[ASN][1000 genomes]
rs11778484	0.84[CEU][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes]
rs11779511	0.84[CEU][hapmap];0.87[YRI][hapmap]
rs11784432	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11787472	0.81[ASN][1000 genomes]
rs11995249	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12056416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12543933	0.83[ASN][1000 genomes]
rs12546457	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12678538	0.84[CEU][hapmap]
rs13258916	0.84[CEU][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes]
rs13275472	0.82[CEU][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes]
rs1354970	0.81[ASN][1000 genomes]
rs1354971	0.81[ASN][1000 genomes]
rs1354972	0.81[ASN][1000 genomes]
rs1354973	0.81[ASN][1000 genomes]
rs1396115	0.84[AFR][1000 genomes]
rs1396116	0.91[CEU][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes]
rs1396117	0.84[CEU][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes]
rs1472871	0.81[ASN][1000 genomes]
rs1605556	0.84[CEU][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes]
rs16921349	0.80[ASN][1000 genomes]
rs16921352	0.80[ASN][1000 genomes]
rs16921391	0.81[ASN][1000 genomes]
rs16921401	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs16921404	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs16921462	0.84[AFR][1000 genomes]
rs16921485	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2135987	0.83[CEU][hapmap]
rs28362578	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2873556	0.85[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs35912151	0.83[ASN][1000 genomes]
rs4570152	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4738558	0.83[CEU][hapmap]
rs55744759	0.85[ASN][1000 genomes]
rs55820553	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55915041	0.81[ASN][1000 genomes]
rs56147332	0.81[ASN][1000 genomes]
rs56264228	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs56360630	0.81[ASN][1000 genomes]
rs57357857	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs58072329	0.81[ASN][1000 genomes]
rs60545677	0.81[ASN][1000 genomes]
rs6994212	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72647042	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72647043	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72647048	0.83[ASN][1000 genomes]
rs72647049	0.85[ASN][1000 genomes]
rs73681989	0.81[ASN][1000 genomes]
rs7813182	0.80[ASN][1000 genomes]
rs7816748	0.81[ASN][1000 genomes]
rs7817368	0.80[ASN][1000 genomes]
rs7822936	0.81[ASN][1000 genomes]
rs7830753	0.80[ASN][1000 genomes]
rs7831943	0.81[ASN][1000 genomes]
rs7832594	0.81[ASN][1000 genomes]
rs7835887	0.81[ASN][1000 genomes]
rs7836128	0.81[ASN][1000 genomes]
rs7838711	0.81[ASN][1000 genomes]
rs906538	0.80[ASN][1000 genomes]
rs965325	0.81[ASN][1000 genomes]
rs965326	0.81[ASN][1000 genomes]
rs965327	0.81[ASN][1000 genomes]
rs967930	0.84[CEU][hapmap];0.88[YRI][hapmap];0.82[AFR][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	nsv1029443	chr8:57748114-58057656	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv3430321	chr8:57858417-58055129	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16921483	IMPAD1	cis	Frontal Cortex	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:57866400-57878600	Weak transcription	Ovary	ovary
2	chr8:57866400-57902600	Weak transcription	Pancreas	Pancrea
3	chr8:57866800-57880800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:57866800-57890000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:57867600-57881400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:57868400-57878600	Weak transcription	Aorta	Aorta
7	chr8:57868600-57878400	Weak transcription	Fetal Brain Female	brain
8	chr8:57868800-57878400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:57868800-57895800	Weak transcription	Spleen	Spleen
10	chr8:57869000-57896000	Weak transcription	Esophagus	oesophagus
11	chr8:57869400-57881800	Weak transcription	Stomach Mucosa	stomach
12	chr8:57870400-57880600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:57870800-57880200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:57870800-57892000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:57871200-57888400	Weak transcription	HSMMtube	muscle
16	chr8:57871400-57878400	Weak transcription	Gastric	stomach
17	chr8:57872400-57878600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:57872400-57883200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:57872600-57880200	Strong transcription	Fetal Intestine Large	intestine
20	chr8:57872600-57880600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:57872600-57881800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:57872600-57882400	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr8:57872600-57883200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr8:57872800-57880200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr8:57872800-57880200	Strong transcription	Liver	Liver
26	chr8:57872800-57880400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:57872800-57880600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr8:57872800-57881600	Strong transcription	Duodenum Mucosa	Duodenum
29	chr8:57872800-57882600	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr8:57872800-57885400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:57872800-57891800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:57872800-57892800	Strong transcription	Dnd41	blood
33	chr8:57873000-57878400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:57873000-57880600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:57873200-57880400	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:57873200-57881800	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:57873200-57882000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr8:57873400-57878400	Weak transcription	HepG2	liver
39	chr8:57873400-57880200	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr8:57873400-57880400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr8:57873400-57880600	Strong transcription	Primary T cells from cord blood	blood
42	chr8:57874200-57879000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:57874200-57879600	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr8:57874400-57880600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr8:57874400-57880800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:57874400-57882600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr8:57874400-57896000	Weak transcription	Right Ventricle	heart
48	chr8:57874600-57878800	Strong transcription	Primary hematopoietic stem cells	blood
49	chr8:57874600-57880600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:57874600-57882000	Strong transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links