Variant report

Variant	rs1003528
Chromosome Location	chr6:164000217-164000218
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163832916..163835689-chr6:163998720..164000334,2	K562	blood:
2	chr6:163999887..164002454-chr6:164029460..164032387,2	K562	blood:
3	chr6:163982012..163984451-chr6:163998369..164000574,2	K562	blood:

Variant related genes	Relation type
ENSG00000270419	Chromatin interaction
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs1016501	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1016502	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1040514	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1047944	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752044	1.00[ASN][1000 genomes]
rs12194023	1.00[ASN][1000 genomes]
rs1230321	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1234603	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1234604	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1234976	1.00[ASN][1000 genomes]
rs1614795	1.00[ASN][1000 genomes]
rs1619076	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1619863	1.00[ASN][1000 genomes]
rs1737329	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737333	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737600	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737601	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737603	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737604	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737606	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737607	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737609	1.00[ASN][1000 genomes]
rs1737611	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737612	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744924	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1744925	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1744926	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1744927	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1744928	1.00[ASN][1000 genomes]
rs1744933	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1745094	0.96[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038146	1.00[ASN][1000 genomes]
rs2038147	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2057003	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2092406	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2092407	1.00[ASN][1000 genomes]
rs2179523	1.00[ASN][1000 genomes]
rs2179524	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2321698	1.00[ASN][1000 genomes]
rs2321700	1.00[ASN][1000 genomes]
rs2321701	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2321702	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2484877	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2745364	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2745365	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757579	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757580	0.85[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757581	1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757582	1.00[ASN][1000 genomes]
rs2757583	1.00[ASN][1000 genomes]
rs2757586	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2757587	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2757588	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs2757589	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759381	1.00[ASN][1000 genomes]
rs2759383	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759384	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759385	0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759387	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759388	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759389	1.00[ASN][1000 genomes]
rs2759390	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759391	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759392	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759393	1.00[ASN][1000 genomes]
rs2759395	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759398	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759399	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784865	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2784867	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2784873	1.00[ASN][1000 genomes]
rs2874602	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4708996	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4708997	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6455900	1.00[ASN][1000 genomes]
rs6455902	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6455903	1.00[ASN][1000 genomes]
rs6455904	1.00[ASN][1000 genomes]
rs6909364	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6913113	1.00[ASN][1000 genomes]
rs6914387	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6915247	1.00[ASN][1000 genomes]
rs6924130	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6926584	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6927417	1.00[ASN][1000 genomes]
rs6931049	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs721190	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs721191	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7746116	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749189	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7752945	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7761088	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7768051	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7769145	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7775850	1.00[ASN][1000 genomes]
rs7776279	0.82[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs783136	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs783138	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs783140	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs803613	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs809155	1.00[ASN][1000 genomes]
rs813640	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs814143	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9295222	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9295223	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9295224	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347754	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9347755	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9347756	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9347759	1.00[ASN][1000 genomes]
rs9347763	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9356117	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9356119	1.00[CHB][hapmap]
rs9356120	1.00[ASN][1000 genomes]
rs9356121	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365572	1.00[ASN][1000 genomes]
rs9365573	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9365574	1.00[ASN][1000 genomes]
rs9365577	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365578	0.89[CEU][hapmap]
rs9456866	1.00[ASN][1000 genomes]
rs9456869	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription 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 target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2758092	chr6:163992064-164161903	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv2759490	chr6:163992064-164161903	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1003528	QKI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163985000-164006800	Weak transcription	Spleen	Spleen
2	chr6:163986600-164007000	Weak transcription	Aorta	Aorta
3	chr6:163987600-164007000	Weak transcription	Hela-S3	cervix
4	chr6:163991200-164001800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr6:163992000-164000600	Weak transcription	Fetal Kidney	kidney
6	chr6:163992200-164000400	Weak transcription	Pancreas	Pancrea
7	chr6:163992200-164000600	Weak transcription	Fetal Stomach	stomach
8	chr6:163992200-164002000	Weak transcription	Ovary	ovary
9	chr6:163992200-164007200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:163992200-164007200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr6:163992200-164009000	Weak transcription	GM12878-XiMat	blood
12	chr6:163992400-164001800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr6:163992400-164005800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:163992400-164007000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:163992400-164007800	Weak transcription	Lung	lung
16	chr6:163993200-164001200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:163994000-164004800	Weak transcription	HepG2	liver
18	chr6:163994000-164007200	Weak transcription	NHLF	lung
19	chr6:163994200-164006400	Weak transcription	A549	lung
20	chr6:163994200-164006400	Weak transcription	HUVEC	blood vessel
21	chr6:163994400-164006600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr6:163995200-164007200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:163995600-164003400	Weak transcription	Psoas Muscle	Psoas
24	chr6:163995600-164006800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:163996000-164000400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:163996200-164000400	Weak transcription	Osteobl	bone
27	chr6:163996200-164001000	Weak transcription	Fetal Lung	lung
28	chr6:163996200-164007000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:163996200-164007200	Weak transcription	NHDF-Ad	bronchial
30	chr6:163996600-164002000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr6:163996800-164000600	Weak transcription	Adipose Nuclei	Adipose
32	chr6:163996800-164001200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr6:163996800-164002200	Enhancers	Brain Anterior Caudate	brain
34	chr6:163997000-164000600	Weak transcription	Fetal Brain Male	brain
35	chr6:163997600-164000400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr6:163997600-164006400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr6:163998000-164000400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr6:163998000-164006200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr6:163998200-164001600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr6:163998200-164001800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr6:163998200-164010800	Enhancers	Brain Cingulate Gyrus	brain
42	chr6:163998400-164000400	Weak transcription	Liver	Liver
43	chr6:163998400-164007800	Enhancers	Brain Hippocampus Middle	brain
44	chr6:163998800-164003800	Enhancers	Fetal Heart	heart
45	chr6:163998800-164009000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr6:163999000-164001000	Weak transcription	Brain Angular Gyrus	brain
47	chr6:163999200-164000800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:163999600-164000400	Strong transcription	HSMMtube	muscle
49	chr6:163999600-164000800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:163999600-164001000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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