Variant report

Variant	rs1230320
Chromosome Location	chr6:163896904-163896905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163896082..163898816-chr6:163902076..163903998,2	K562	blood:
2	chr6:163892454..163895409-chr6:163896616..163898931,2	K562	blood:
3	chr6:163896776..163899468-chr6:163904713..163906625,2	K562	blood:
4	chr6:163890293..163893385-chr6:163894823..163897543,3	K562	blood:

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];0.96[EUR][1000 genomes]
rs1234977	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1572434	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1614869	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737330	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1737610	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1744929	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1764022	0.82[ASW][hapmap];1.00[CEU][hapmap];0.83[GIH][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1764023	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2259476	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2259477	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2475390	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2475877	0.81[EUR][1000 genomes]
rs2757575	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2757576	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2757584	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757585	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759386	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[GIH][hapmap];0.90[TSI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759396	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6939187	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73021476	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs783137	0.82[ASW][hapmap];1.00[CEU][hapmap];0.89[GIH][hapmap];0.90[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs783139	0.82[ASW][hapmap];1.00[CEU][hapmap];0.89[GIH][hapmap];0.90[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs803612	0.82[ASW][hapmap];0.89[GIH][hapmap];0.90[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347747	0.93[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs9347752	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9347765	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9347766	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9365575	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9458843	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[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
rs1230320	QKI	cis	Whole Blood	GTEx

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163878800-163910200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:163880600-163897600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:163880600-163903200	Weak transcription	Pancreas	Pancrea
4	chr6:163880600-163906600	Weak transcription	Gastric	stomach
5	chr6:163881800-163897600	Weak transcription	Ovary	ovary
6	chr6:163881800-163901000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:163881800-163910800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:163882000-163899800	Weak transcription	Placenta	Placenta
9	chr6:163882000-163900000	Weak transcription	Fetal Thymus	thymus
10	chr6:163882000-163906600	Weak transcription	Thymus	Thymus
11	chr6:163883000-163900800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr6:163883000-163900800	Weak transcription	NH-A	brain
13	chr6:163883000-163906800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr6:163883800-163897000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:163887200-163900000	Weak transcription	Fetal Stomach	stomach
16	chr6:163888400-163902800	Weak transcription	Right Atrium	heart
17	chr6:163888400-163908200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr6:163889400-163897400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr6:163890000-163900200	Weak transcription	Liver	Liver
20	chr6:163890000-163906200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr6:163890800-163911400	Weak transcription	Osteobl	bone
22	chr6:163891400-163898600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:163891400-163900000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr6:163891400-163900000	Weak transcription	Lung	lung
25	chr6:163891400-163906400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:163891400-163910200	Weak transcription	HUVEC	blood vessel
27	chr6:163891600-163900200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:163891600-163905000	Weak transcription	K562	blood
29	chr6:163891800-163899400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr6:163891800-163902000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:163892000-163904200	Weak transcription	NHDF-Ad	bronchial
32	chr6:163892200-163899200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:163892200-163899800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:163892200-163911400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr6:163892400-163897400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:163892400-163899800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr6:163892400-163899800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr6:163892400-163903400	Weak transcription	Primary B cells from cord blood	blood
39	chr6:163892600-163899400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:163892600-163906600	Weak transcription	NHEK	skin
41	chr6:163892600-163910400	Weak transcription	HMEC	breast
42	chr6:163892800-163900200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:163892800-163900400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:163893000-163899600	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr6:163893000-163912800	Weak transcription	Fetal Brain Male	brain
46	chr6:163893200-163899400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:163893200-163899400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr6:163893400-163897600	Enhancers	Fetal Heart	heart
49	chr6:163893400-163898000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:163893400-163899800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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