Variant report

Variant	rs771458
Chromosome Location	chr1:93822349-93822350
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10443193	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1081522	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10874783	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10874784	0.91[EUR][1000 genomes]
rs11164885	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11164897	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11164905	0.82[ASN][1000 genomes]
rs11164908	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11164921	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11576494	0.80[ASN][1000 genomes]
rs12030843	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12031709	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12031765	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12033147	0.82[ASN][1000 genomes]
rs12036057	0.82[ASN][1000 genomes]
rs12044557	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12044883	0.81[ASN][1000 genomes]
rs12048219	0.81[ASN][1000 genomes]
rs12133576	0.81[ASN][1000 genomes]
rs12405487	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12563120	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12566752	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12752223	0.81[ASN][1000 genomes]
rs1365297	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1559828	0.81[ASN][1000 genomes]
rs2114271	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2114272	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2162276	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2391251	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3087457	0.84[ASN][1000 genomes]
rs35628716	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35910103	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35915989	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3767962	0.81[ASN][1000 genomes]
rs3767964	0.81[ASN][1000 genomes]
rs3904665	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4484937	0.82[ASN][1000 genomes]
rs4847240	0.81[ASN][1000 genomes]
rs4847241	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4847242	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4847412	0.81[ASN][1000 genomes]
rs4847426	0.92[EUR][1000 genomes]
rs58354545	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61266405	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61799500	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61799516	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61799538	0.82[ASN][1000 genomes]
rs6541349	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6658257	0.81[ASN][1000 genomes]
rs6676902	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6680022	0.81[ASN][1000 genomes]
rs6684908	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6691545	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6694508	0.81[ASN][1000 genomes]
rs698927	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959220	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7525248	0.81[ASN][1000 genomes]
rs771454	0.87[ASN][1000 genomes]
rs771461	0.87[ASN][1000 genomes]
rs771462	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs771465	0.87[ASN][1000 genomes]
rs771470	0.81[ASN][1000 genomes]
rs771476	0.83[ASN][1000 genomes]
rs771478	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs771479	0.84[ASN][1000 genomes]
rs771481	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs771482	0.84[ASN][1000 genomes]
rs810027	0.83[ASN][1000 genomes]
rs812214	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93812800-93823800	Weak transcription	Spleen	Spleen
2	chr1:93812800-93831000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:93812800-93832200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:93813000-93823800	Weak transcription	Gastric	stomach
5	chr1:93813400-93840000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:93813400-93840400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:93814200-93823600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:93814200-93823800	Weak transcription	Right Ventricle	heart
9	chr1:93815400-93839800	Weak transcription	Aorta	Aorta
10	chr1:93815600-93834800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:93816000-93823800	Weak transcription	Stomach Mucosa	stomach
12	chr1:93816000-93832200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:93816200-93823400	Weak transcription	HSMMtube	muscle
14	chr1:93816600-93841800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:93816800-93841200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:93817400-93822400	Weak transcription	Esophagus	oesophagus
17	chr1:93817400-93822800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr1:93817400-93823400	Weak transcription	Lung	lung
19	chr1:93817600-93823800	Weak transcription	Fetal Brain Female	brain
20	chr1:93817600-93824600	Strong transcription	Fetal Intestine Large	intestine
21	chr1:93817800-93822400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:93817800-93832400	Weak transcription	Psoas Muscle	Psoas
23	chr1:93818000-93826400	Strong transcription	Placenta	Placenta
24	chr1:93818000-93835400	Weak transcription	Small Intestine	intestine
25	chr1:93818200-93823600	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:93818200-93823600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:93818200-93823800	Weak transcription	Pancreas	Pancrea
28	chr1:93818200-93826400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:93818200-93826600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
30	chr1:93818400-93823200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr1:93818400-93823600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:93818400-93823600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:93818400-93823800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:93818400-93824200	Weak transcription	Brain Substantia Nigra	brain
35	chr1:93818400-93824400	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr1:93818400-93825600	Strong transcription	Primary B cells from cord blood	blood
37	chr1:93818400-93826200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:93818400-93836000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:93818600-93822800	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:93818600-93823600	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:93818600-93823600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:93818600-93823600	Weak transcription	Fetal Heart	heart
43	chr1:93818600-93824600	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr1:93818800-93822800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr1:93818800-93827200	Strong transcription	Fetal Thymus	thymus
46	chr1:93818800-93837200	Weak transcription	Fetal Kidney	kidney
47	chr1:93819000-93823600	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:93819000-93828000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:93819000-93833200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:93819200-93823800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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