Variant report

Variant	rs73021476
Chromosome Location	chr6:163959449-163959450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163957772..163960340-chr6:163964403..163966144,2	MCF-7	breast:
2	chr6:163957257..163960069-chr6:163960925..163963530,2	K562	blood:
3	chr6:163953551..163956028-chr6:163958889..163960899,2	K562	blood:
4	chr6:163956713..163960069-chr6:163960925..163963530,5	K562	blood:
5	chr6:163834027..163837000-chr6:163957594..163959485,2	K562	blood:

Variant related genes	Relation type
ENSG00000270419	Chromatin interaction
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12210561	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1230320	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1234977	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1572434	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1614869	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1737330	0.83[AMR][1000 genomes]
rs1737610	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1744929	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1764022	0.83[AMR][1000 genomes]
rs1764023	0.83[AMR][1000 genomes]
rs2259476	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2259477	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2475390	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2757575	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2757576	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2757584	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2757585	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2759386	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2759396	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6939187	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7450397	0.94[ASN][1000 genomes]
rs783137	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs783139	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs803612	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9347752	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9347758	1.00[ASN][1000 genomes]
rs9347765	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365575	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9458843	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019551	chr6:163842358-163965216	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1017495	chr6:163856399-163981095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027863	chr6:163934616-163965216	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	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
5	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73021476	QKI	cis	Whole Blood	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163926600-163991800	Weak transcription	Esophagus	oesophagus
2	chr6:163940200-163983000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr6:163948600-163964600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:163949600-163975200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:163949600-163992000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:163949600-163995400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:163951000-163978800	Weak transcription	Fetal Kidney	kidney
8	chr6:163951200-163993200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:163951600-163985800	Weak transcription	Hela-S3	cervix
10	chr6:163951800-163973400	Weak transcription	Fetal Stomach	stomach
11	chr6:163952400-163984400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr6:163952600-163960200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:163952600-163960400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:163952600-163960800	Enhancers	Brain Cingulate Gyrus	brain
15	chr6:163952600-163961400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr6:163952600-163972000	Weak transcription	Primary T cells from cord blood	blood
17	chr6:163952600-163979600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:163952600-163981400	Weak transcription	Pancreas	Pancrea
19	chr6:163952600-163982800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr6:163952600-163996600	Weak transcription	Gastric	stomach
21	chr6:163953000-163959600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:163953800-163964000	Weak transcription	Fetal Brain Male	brain
23	chr6:163954000-163960200	Weak transcription	Spleen	Spleen
24	chr6:163954000-163968400	Weak transcription	K562	blood
25	chr6:163954000-163979400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:163954000-163984200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr6:163954000-163984400	Weak transcription	Aorta	Aorta
28	chr6:163954000-163991600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:163954800-163984200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr6:163955000-163979600	Weak transcription	NHEK	skin
31	chr6:163955200-163984200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr6:163955600-163960400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr6:163955600-163960800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:163955600-163962600	Weak transcription	Fetal Brain Female	brain
35	chr6:163955800-163983000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr6:163955800-163984400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:163956000-163968400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:163956000-163978000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:163956000-163979400	Weak transcription	NHLF	lung
40	chr6:163956200-163959600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:163956200-163979800	Weak transcription	NHDF-Ad	bronchial
42	chr6:163956800-163960800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr6:163957000-163959800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:163957000-163960800	Strong transcription	Primary B cells from cord blood	blood
45	chr6:163957400-163959600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:163957400-163959600	Strong transcription	Fetal Muscle Leg	muscle
47	chr6:163957400-163960000	Genic enhancers	Brain Anterior Caudate	brain
48	chr6:163957400-163960400	Genic enhancers	Brain Hippocampus Middle	brain
49	chr6:163957400-163960400	Strong transcription	HepG2	liver
50	chr6:163957400-163960400	Strong transcription	HSMM	muscle

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