Variant report

Variant	rs7450397
Chromosome Location	chr6:163946610-163946611
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163935041..163936837-chr6:163945446..163947162,2	K562	blood:
2	chr6:163943184..163945151-chr6:163945835..163948340,2	K562	blood:
3	chr6:163916682..163919334-chr6:163944719..163947401,2	MCF-7	breast:
4	chr6:163941356..163943183-chr6:163944716..163947112,2	K562	blood:
5	chr6:163863869..163866423-chr6:163944458..163946973,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12210561	0.94[ASN][1000 genomes]
rs1737610	0.81[ASN][1000 genomes]
rs73021476	0.94[ASN][1000 genomes]
rs9347752	0.81[ASN][1000 genomes]
rs9347758	0.94[ASN][1000 genomes]
rs9347765	0.94[ASN][1000 genomes]
rs9347766	0.94[ASN][1000 genomes]
rs9365575	0.94[ASN][1000 genomes]
rs9458843	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
4	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
5	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
6	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
7	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
rs7450397	QKI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163926600-163991800	Weak transcription	Esophagus	oesophagus
2	chr6:163927200-163951600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:163928200-163951600	Weak transcription	Spleen	Spleen
4	chr6:163929000-163947200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:163929200-163946800	Weak transcription	HMEC	breast
6	chr6:163929600-163947200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:163929600-163950800	Weak transcription	Fetal Lung	lung
8	chr6:163929600-163951600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:163929800-163957000	Weak transcription	Primary B cells from cord blood	blood
10	chr6:163930600-163950200	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:163934200-163949200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:163935200-163946800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr6:163935200-163947400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:163935200-163950600	Weak transcription	Ovary	ovary
15	chr6:163935200-163952200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:163935200-163958800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr6:163935200-163959400	Weak transcription	Lung	lung
18	chr6:163935400-163951600	Weak transcription	Pancreas	Pancrea
19	chr6:163936800-163947200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:163936800-163953600	Enhancers	Brain Hippocampus Middle	brain
21	chr6:163936800-163957400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr6:163938200-163951000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr6:163939800-163956200	Enhancers	Brain Anterior Caudate	brain
24	chr6:163940200-163983000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr6:163940400-163947600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:163940400-163949000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr6:163940400-163950200	Weak transcription	Fetal Brain Female	brain
28	chr6:163941800-163946800	Weak transcription	Osteobl	bone
29	chr6:163941800-163949400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr6:163942400-163947200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr6:163943200-163947800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr6:163943600-163951200	Weak transcription	HepG2	liver
33	chr6:163944000-163946800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr6:163944000-163946800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:163944000-163949400	Enhancers	Brain Cingulate Gyrus	brain
36	chr6:163944000-163950600	Weak transcription	Small Intestine	intestine
37	chr6:163944000-163952200	Weak transcription	Gastric	stomach
38	chr6:163944000-163952200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr6:163944200-163946800	Weak transcription	HSMM	muscle
40	chr6:163944200-163947000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:163944200-163947000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr6:163944200-163947200	Weak transcription	Adipose Nuclei	Adipose
43	chr6:163944200-163952200	Weak transcription	K562	blood
44	chr6:163944200-163953600	Weak transcription	GM12878-XiMat	blood
45	chr6:163944200-163957400	Enhancers	Brain Substantia Nigra	brain
46	chr6:163944600-163946800	Weak transcription	NH-A	brain
47	chr6:163944600-163949200	Weak transcription	Brain Germinal Matrix	brain
48	chr6:163944600-163952400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:163945000-163947800	Weak transcription	HSMMtube	muscle
50	chr6:163945000-163949400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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