Variant report

Variant	rs584456
Chromosome Location	chr6:147617313-147617314
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:147615081..147617639-chr6:147618287..147620989,3	K562	blood:
2	chr6:147610982..147613437-chr6:147615648..147618340,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1039083	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1039084	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1039085	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1039086	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1147844	0.81[EUR][1000 genomes]
rs1147845	0.88[ASN][1000 genomes]
rs1147846	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1147847	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12173905	0.95[ASN][1000 genomes]
rs12191720	0.88[ASN][1000 genomes]
rs12199542	0.85[ASN][1000 genomes]
rs1221638	0.84[EUR][1000 genomes]
rs12527235	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1496031	0.82[CEU][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap]
rs1660687	0.80[EUR][1000 genomes]
rs1992389	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2068111	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2218221	0.83[EUR][1000 genomes]
rs2502732	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2582924	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2582925	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2582929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2786183	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2786184	0.82[EUR][1000 genomes]
rs2786185	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2786187	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2850177	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2850178	0.82[EUR][1000 genomes]
rs486867	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4896904	0.82[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4896907	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs519630	0.93[EUR][1000 genomes]
rs533201	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs556493	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs562417	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs566028	0.93[ASW][hapmap];0.81[CEU][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.83[LWK][hapmap];0.89[TSI][hapmap];0.89[YRI][hapmap];0.82[EUR][1000 genomes]
rs577877	0.87[ASN][1000 genomes]
rs580657	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs588273	0.86[ASN][1000 genomes]
rs58987334	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs591355	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs597631	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs598038	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs614476	0.87[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.80[MKK][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs617975	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs618474	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs619175	0.80[EUR][1000 genomes]
rs619626	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs620715	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62435617	0.96[ASN][1000 genomes]
rs62435630	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs633603	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs657155	0.88[EUR][1000 genomes]
rs659399	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs664203	0.82[CEU][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs673944	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6928919	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6932613	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7739314	0.86[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7748995	0.81[EUR][1000 genomes]
rs7762087	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7765526	0.81[EUR][1000 genomes]
rs7769576	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9373522	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9377048	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9390459	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9390460	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9390461	0.81[EUR][1000 genomes]
rs9390463	0.86[ASN][1000 genomes]
rs9399597	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9399598	0.82[CEU][hapmap];0.84[CHB][hapmap];0.91[CHD][hapmap];0.81[JPT][hapmap];0.87[MKK][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9399599	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS 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 target site	21 gene(s)	inside rSNPs	diseases
2	nsv886753	chr6:147526508-147680291	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv470864	chr6:147539165-147709179	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv886754	chr6:147539165-147729477	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv604840	chr6:147539165-147730324	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv1832155	chr6:147554900-147715464	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv886755	chr6:147577646-147729477	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv886756	chr6:147580697-147729477	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv830839	chr6:147584914-147757264	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv522406	chr6:147591022-147635413	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv886757	chr6:147591022-147729477	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs584456	STXBP5	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147564400-147619000	Weak transcription	Hela-S3	cervix
2	chr6:147584400-147684600	Weak transcription	Brain Angular Gyrus	brain
3	chr6:147587000-147618000	Weak transcription	Psoas Muscle	Psoas
4	chr6:147600200-147618800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:147601000-147619000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:147601600-147625200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:147606400-147617400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:147606400-147618400	Weak transcription	Brain Anterior Caudate	brain
9	chr6:147607400-147707400	Weak transcription	Colon Smooth Muscle	Colon
10	chr6:147609800-147667000	Weak transcription	NHEK	skin
11	chr6:147610200-147624600	Weak transcription	Brain Substantia Nigra	brain
12	chr6:147610200-147624600	Weak transcription	HMEC	breast
13	chr6:147610200-147700200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:147611600-147636200	Weak transcription	HUVEC	blood vessel
15	chr6:147613000-147618000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:147613200-147620600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:147613600-147617400	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr6:147613800-147617400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:147614200-147618800	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr6:147614400-147617600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:147615400-147618800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:147616000-147617400	Strong transcription	Primary T cells from cord blood	blood
23	chr6:147616000-147618600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr6:147616200-147619800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr6:147616200-147620000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr6:147616400-147617400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:147616400-147617400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr6:147616400-147617600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
29	chr6:147616400-147617600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
30	chr6:147616400-147617600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:147616400-147617600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:147616400-147617600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:147616400-147617800	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr6:147616400-147619800	Strong transcription	Osteobl	bone
35	chr6:147616400-147620000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:147616400-147621800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:147616400-147624800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:147616600-147617400	Strong transcription	Brain Hippocampus Middle	brain
39	chr6:147616600-147617400	Strong transcription	Colonic Mucosa	Colon
40	chr6:147616600-147617600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:147616600-147617600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr6:147616600-147617600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
43	chr6:147616600-147617600	ZNF genes & repeats	Liver	Liver
44	chr6:147616600-147617600	Strong transcription	Brain Cingulate Gyrus	brain
45	chr6:147616600-147617600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:147616600-147617600	ZNF genes & repeats	Esophagus	oesophagus
47	chr6:147616600-147617600	ZNF genes & repeats	Fetal Intestine Small	intestine
48	chr6:147616600-147617600	ZNF genes & repeats	Fetal Stomach	stomach
49	chr6:147616600-147617600	Strong transcription	Left Ventricle	heart
50	chr6:147616600-147617600	ZNF genes & repeats	Lung	lung

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