Variant report

Variant	rs1047935
Chromosome Location	chr6:163997175-163997176
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:163834016..163836871-chr6:163995838..163998585,2	K562	blood:

Variant related genes	Relation type
ENSG00000112531	Chromatin interaction
ENSG00000270419	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13199835	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13202282	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2143358	0.85[ASN][1000 genomes]
rs2294698	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2294703	0.82[ASN][1000 genomes]
rs2294706	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2294709	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35442073	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3756879	0.82[ASN][1000 genomes]
rs41268571	0.82[ASN][1000 genomes]
rs4709716	0.84[EUR][1000 genomes]
rs4709717	0.86[EUR][1000 genomes]
rs4709718	0.87[EUR][1000 genomes]
rs4709720	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4709722	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs715020	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs724826	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9346960	0.84[EUR][1000 genomes]
rs9347760	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9364688	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9364689	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9364691	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9364692	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv2758092	chr6:163992064-164161903	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv2759490	chr6:163992064-164161903	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1047935	QKI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163959800-163997200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:163970800-164000200	Weak transcription	Right Atrium	heart
3	chr6:163978000-163998000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr6:163978800-163997600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr6:163980000-163997200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:163982800-163998000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:163983000-163998400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:163983200-163997400	Weak transcription	Fetal Brain Female	brain
9	chr6:163984800-164000000	Weak transcription	Right Ventricle	heart
10	chr6:163985000-164006800	Weak transcription	Spleen	Spleen
11	chr6:163985800-163997600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:163986600-164007000	Weak transcription	Aorta	Aorta
13	chr6:163987600-164007000	Weak transcription	Hela-S3	cervix
14	chr6:163987800-164000200	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:163989600-163997800	Enhancers	Brain Hippocampus Middle	brain
16	chr6:163991200-164001800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr6:163991600-163998200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:163992000-164000000	Strong transcription	HSMM	muscle
19	chr6:163992000-164000600	Weak transcription	Fetal Kidney	kidney
20	chr6:163992200-163997200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:163992200-164000000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:163992200-164000000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:163992200-164000200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:163992200-164000400	Weak transcription	Pancreas	Pancrea
25	chr6:163992200-164000600	Weak transcription	Fetal Stomach	stomach
26	chr6:163992200-164002000	Weak transcription	Ovary	ovary
27	chr6:163992200-164007200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:163992200-164007200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr6:163992200-164009000	Weak transcription	GM12878-XiMat	blood
30	chr6:163992400-163997400	Weak transcription	Fetal Thymus	thymus
31	chr6:163992400-163997800	Enhancers	Brain Substantia Nigra	brain
32	chr6:163992400-163998200	Weak transcription	Brain Germinal Matrix	brain
33	chr6:163992400-163999000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr6:163992400-163999200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr6:163992400-163999600	Weak transcription	HSMMtube	muscle
36	chr6:163992400-164000200	Weak transcription	Esophagus	oesophagus
37	chr6:163992400-164001800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr6:163992400-164005800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:163992400-164007000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:163992400-164007800	Weak transcription	Lung	lung
41	chr6:163992600-163997800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr6:163992800-163997600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr6:163993000-163997200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr6:163993200-164000000	Weak transcription	NHEK	skin
45	chr6:163993200-164000200	Weak transcription	Primary B cells from cord blood	blood
46	chr6:163993200-164001200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:163993400-163999800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:163993600-164000200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:163993800-163998400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr6:163994000-164004800	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links