Variant report

Variant	rs2757584
Chromosome Location	chr6:163869357-163869358
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:163833260..163836877-chr6:163867891..163872253,4	K562	blood:
2	chr6:163867918..163871550-chr6:163871903..163874909,5	K562	blood:

Variant related genes	Relation type
ENSG00000112531	Chromatin interaction
ENSG00000270419	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12210561	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1230320	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1234977	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1572434	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1614869	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737330	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1737610	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1744929	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1764022	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1764023	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2259476	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2259477	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2475390	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2475877	0.85[EUR][1000 genomes]
rs2757575	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2757576	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2757585	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759386	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759396	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6939187	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73021476	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs783137	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs783139	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs803612	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347747	0.86[EUR][1000 genomes]
rs9347752	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9347765	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9347766	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9365575	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9458843	0.94[AMR][1000 genomes];0.88[EUR][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	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1797109	chr6:163834147-163908115	Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv523664	chr6:163858237-163907885	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2757584	QKI	cis	Whole Blood	GTEx

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163840800-163881400	Weak transcription	Fetal Stomach	stomach
2	chr6:163845400-163877800	Weak transcription	Fetal Muscle Leg	muscle
3	chr6:163848800-163878400	Weak transcription	Pancreas	Pancrea
4	chr6:163852000-163880000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:163852200-163875600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:163852200-163875600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:163858400-163876600	Weak transcription	Primary B cells from cord blood	blood
8	chr6:163859600-163876600	Weak transcription	HUVEC	blood vessel
9	chr6:163859600-163878000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:163860200-163875400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:163860200-163876200	Weak transcription	HSMM	muscle
12	chr6:163860200-163876200	Weak transcription	NHLF	lung
13	chr6:163860200-163877800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:163860400-163876600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr6:163860800-163878400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:163860800-163880000	Weak transcription	Lung	lung
17	chr6:163862600-163878000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:163862800-163876400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr6:163862800-163878600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:163863000-163876800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr6:163863000-163880200	Weak transcription	Esophagus	oesophagus
22	chr6:163863200-163876400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr6:163863200-163879200	Weak transcription	Fetal Brain Male	brain
24	chr6:163863600-163871400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr6:163863600-163876600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:163863600-163878400	Weak transcription	Primary T cells from cord blood	blood
27	chr6:163863600-163878800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:163863800-163877800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr6:163863800-163877800	Weak transcription	Placenta	Placenta
30	chr6:163863800-163878000	Weak transcription	HMEC	breast
31	chr6:163863800-163878200	Weak transcription	NHEK	skin
32	chr6:163863800-163878800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr6:163864600-163870000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr6:163864600-163875600	Weak transcription	Right Atrium	heart
35	chr6:163864800-163876400	Enhancers	Brain Substantia Nigra	brain
36	chr6:163865000-163877000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:163865200-163881400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr6:163865400-163869400	Enhancers	Brain Anterior Caudate	brain
39	chr6:163865400-163870000	Weak transcription	NH-A	brain
40	chr6:163865400-163870200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:163865400-163875600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr6:163865400-163875600	Weak transcription	Fetal Brain Female	brain
43	chr6:163865400-163877800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:163865400-163877800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:163865400-163878600	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr6:163865400-163878800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:163865600-163876600	Weak transcription	K562	blood
48	chr6:163865600-163878000	Weak transcription	Fetal Kidney	kidney
49	chr6:163866200-163871200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr6:163866200-163872200	Weak transcription	Gastric	stomach

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