Variant report

Variant	rs2294703
Chromosome Location	chr6:163963084-163963085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163957257..163960069-chr6:163960925..163963530,2	K562	blood:
2	chr6:163962731..163964246-chr6:163970939..163973748,2	K562	blood:
3	chr6:163956713..163960069-chr6:163960925..163963530,5	K562	blood:
4	chr6:163952879..163955434-chr6:163961662..163963741,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1047935	0.82[ASN][1000 genomes]
rs11962088	0.94[CHB][hapmap];0.84[JPT][hapmap]
rs13199835	0.87[ASN][1000 genomes]
rs16895015	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1737319	0.84[CHD][hapmap]
rs1737324	0.87[CHD][hapmap]
rs1737328	0.88[CHB][hapmap];0.84[JPT][hapmap]
rs17591955	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes]
rs1764010	0.84[CHD][hapmap]
rs2143358	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2294698	0.88[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2294706	0.89[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2294707	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2294709	0.89[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs3756879	1.00[CEU][hapmap];0.94[CHB][hapmap];0.80[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3763197	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3857504	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs3904720	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs41268571	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4263561	0.83[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap]
rs4709716	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs4709717	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs4709720	0.81[ASN][1000 genomes]
rs4709722	0.86[ASN][1000 genomes]
rs59759961	0.88[ASN][1000 genomes]
rs6455897	0.84[JPT][hapmap]
rs6931903	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6939218	0.94[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap]
rs715020	0.82[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs724826	0.83[ASN][1000 genomes]
rs73015387	0.81[ASN][1000 genomes]
rs7758706	0.82[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes]
rs7772756	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9346960	0.89[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs9347760	0.82[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs9364689	0.89[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9364691	0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9364692	0.89[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.86[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
rs2294703	QKI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:106 , 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	chr6:163952600-163972000	Weak transcription	Primary T cells from cord blood	blood
13	chr6:163952600-163979600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:163952600-163981400	Weak transcription	Pancreas	Pancrea
15	chr6:163952600-163982800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr6:163952600-163996600	Weak transcription	Gastric	stomach
17	chr6:163953800-163964000	Weak transcription	Fetal Brain Male	brain
18	chr6:163954000-163968400	Weak transcription	K562	blood
19	chr6:163954000-163979400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:163954000-163984200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr6:163954000-163984400	Weak transcription	Aorta	Aorta
22	chr6:163954000-163991600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:163954800-163984200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr6:163955000-163979600	Weak transcription	NHEK	skin
25	chr6:163955200-163984200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:163955800-163983000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr6:163955800-163984400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:163956000-163968400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:163956000-163978000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:163956000-163979400	Weak transcription	NHLF	lung
31	chr6:163956200-163979800	Weak transcription	NHDF-Ad	bronchial
32	chr6:163957800-163982800	Weak transcription	Placenta	Placenta
33	chr6:163957800-163983000	Weak transcription	Osteobl	bone
34	chr6:163958200-163968400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:163958200-163972200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:163958200-163975000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr6:163958200-163984600	Weak transcription	HMEC	breast
38	chr6:163958200-163991600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr6:163958400-163964000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr6:163958400-163964000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr6:163958400-163971400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:163958400-163975200	Weak transcription	Fetal Lung	lung
43	chr6:163958400-163984400	Weak transcription	Fetal Thymus	thymus
44	chr6:163958600-163980000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr6:163958800-163966400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:163958800-163970000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:163958800-163979600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:163958800-163983000	Weak transcription	NH-A	brain
49	chr6:163959000-163977800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr6:163959200-163966400	Enhancers	Brain Germinal Matrix	brain

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