Variant report

Variant	rs4586300
Chromosome Location	chr13:40257571-40257572
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10162010	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10467367	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap]
rs10467368	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4129745	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.93[MEX][hapmap];0.84[MKK][hapmap];0.89[TSI][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4132636	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4132637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4254189	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4261404	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4275735	0.95[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4277227	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4294679	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4300508	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4306389	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4321067	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4334152	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4363738	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4368051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4432137	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4457870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4485233	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4492929	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4514547	0.94[ASW][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4551909	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4556673	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4566029	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4569133	0.94[ASW][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4598779	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4606581	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4636783	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4941940	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4943688	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4943689	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4943692	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943693	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6563737	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6563738	0.95[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6563739	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6563740	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7320424	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7324826	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7325354	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7326555	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7326699	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.86[MEX][hapmap];0.97[MKK][hapmap];0.96[TSI][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7327674	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7330016	1.00[ASW][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7330515	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74044148	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7991151	0.94[ASW][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7991758	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7993726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7993729	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7994665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7998582	0.95[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7999758	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9315723	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9315724	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9532416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9532417	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9548872	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9548873	0.84[CHB][hapmap];0.93[JPT][hapmap];0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9548876	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9548877	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9548878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548881	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9548883	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9548884	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs9548885	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9548895	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9566469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9594362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9603589	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9603591	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9603592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9603593	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9603594	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9603597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.93[MEX][hapmap];0.82[MKK][hapmap];0.96[TSI][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9603602	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1054797	chr13:40198744-40618428	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
3	nsv541755	chr13:40198744-40618428	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS 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	10 gene(s)	inside rSNPs	diseases
4	nsv832586	chr13:40222880-40379063	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv870429	chr13:40235061-40265634	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1040458	chr13:40249387-40638129	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4586300	COG6	cis	Adipose Subcutaneous	GTEx
rs4586300	C13orf36	cis	parietal	SCAN
rs4586300	NHLRC3	cis	parietal	SCAN
rs4586300	COG6	cis	Muscle Skeletal	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40230600-40263800	Weak transcription	Spleen	Spleen
2	chr13:40230800-40258400	Weak transcription	Colonic Mucosa	Colon
3	chr13:40230800-40262000	Weak transcription	Thymus	Thymus
4	chr13:40230800-40275000	Weak transcription	Right Ventricle	heart
5	chr13:40231000-40261800	Weak transcription	Brain Substantia Nigra	brain
6	chr13:40231000-40266200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr13:40231000-40270800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:40231000-40286000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr13:40231400-40264200	Weak transcription	Esophagus	oesophagus
10	chr13:40231400-40268000	Weak transcription	Small Intestine	intestine
11	chr13:40231600-40270200	Weak transcription	Gastric	stomach
12	chr13:40233000-40273600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr13:40233000-40295600	Weak transcription	Pancreas	Pancrea
14	chr13:40236800-40261600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr13:40238000-40291600	Weak transcription	Fetal Intestine Small	intestine
16	chr13:40238600-40261600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr13:40241200-40261600	Weak transcription	HSMM	muscle
18	chr13:40246200-40262800	Weak transcription	Fetal Heart	heart
19	chr13:40246400-40297400	Weak transcription	HUVEC	blood vessel
20	chr13:40251200-40258200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:40251400-40257800	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr13:40251600-40257600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr13:40251600-40258400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr13:40252000-40257600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr13:40252000-40257600	Strong transcription	Fetal Intestine Large	intestine
26	chr13:40252000-40258000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr13:40252000-40258200	Strong transcription	Fetal Lung	lung
28	chr13:40252200-40257800	Strong transcription	Placenta	Placenta
29	chr13:40252200-40258200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:40252200-40258200	Strong transcription	Adipose Nuclei	Adipose
31	chr13:40252200-40261800	Weak transcription	K562	blood
32	chr13:40252400-40257800	Strong transcription	Primary B cells from cord blood	blood
33	chr13:40253000-40258200	Strong transcription	NHDF-Ad	bronchial
34	chr13:40253000-40266200	Weak transcription	Colon Smooth Muscle	Colon
35	chr13:40253200-40257600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr13:40253400-40266600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr13:40254400-40257800	Strong transcription	Fetal Kidney	kidney
38	chr13:40254400-40257800	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr13:40254400-40258200	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr13:40254600-40264000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr13:40255000-40257800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr13:40255000-40258400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr13:40255000-40258600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr13:40255000-40261800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr13:40255000-40261800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr13:40255000-40262400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr13:40255000-40262400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr13:40255000-40262400	Weak transcription	Aorta	Aorta
49	chr13:40255000-40263800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr13:40255000-40264200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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