Variant report

Variant	rs6664668
Chromosome Location	chr1:226255954-226255955
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226252953..226257459-chr1:226295699..226299600,6	K562	blood:
2	chr1:226247680..226258196-chr1:226306136..226315725,36	MCF-7	breast:
3	chr1:226254517..226256095-chr1:226269860..226272655,2	MCF-7	breast:
4	chr1:226252549..226256033-chr1:226258651..226261482,3	MCF-7	breast:
5	chr1:226186405..226189206-chr1:226254998..226256756,2	K562	blood:
6	chr1:226248537..226252087-chr1:226252328..226257854,13	MCF-7	breast:
7	chr1:226217562..226219145-chr1:226254977..226257497,2	K562	blood:
8	chr1:226255554..226257081-chr1:226306856..226309481,2	MCF-7	breast:
9	chr1:226178791..226193771-chr1:226246813..226256535,111	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163041	Chromatin interaction
ENSG00000225518	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000143751	Chromatin interaction
ENSG00000270598	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2755096	0.90[AMR][1000 genomes]
rs2755098	0.90[AMR][1000 genomes]
rs2816322	1.00[MEX][hapmap];0.90[AMR][1000 genomes]
rs61459154	0.90[AMR][1000 genomes]
rs6426093	0.82[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6664668	MIXL1	cis	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226252200-226256000	Weak transcription	Lung	lung
2	chr1:226252200-226256400	Weak transcription	Esophagus	oesophagus
3	chr1:226252200-226257000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:226252400-226256400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:226252800-226257400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:226253000-226257600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:226253000-226258000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:226253000-226270400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:226253200-226256400	Genic enhancers	Rectal Mucosa Donor 29	rectum
10	chr1:226253200-226256600	Genic enhancers	Colon Smooth Muscle	Colon
11	chr1:226253200-226256600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:226253200-226257600	Genic enhancers	Primary B cells from peripheral blood	blood
13	chr1:226253200-226257800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:226253200-226257800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:226253200-226258000	Genic enhancers	Primary T cells fromperipheralblood	blood
16	chr1:226253200-226258800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
17	chr1:226253200-226260200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr1:226253200-226270400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:226253200-226270600	Weak transcription	Aorta	Aorta
20	chr1:226253400-226256000	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr1:226253400-226256600	Genic enhancers	Fetal Thymus	thymus
22	chr1:226253400-226259200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:226253400-226263000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:226253400-226263200	Strong transcription	Fetal Muscle Trunk	muscle
25	chr1:226253400-226263400	Strong transcription	Placenta	Placenta
26	chr1:226253600-226256000	Weak transcription	Right Atrium	heart
27	chr1:226253600-226256200	Strong transcription	NHLF	lung
28	chr1:226253600-226257600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
29	chr1:226253600-226260200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:226253600-226261800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:226253600-226263400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:226253600-226270400	Weak transcription	Small Intestine	intestine
33	chr1:226253800-226260600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:226254000-226256400	Genic enhancers	Primary B cells from cord blood	blood
35	chr1:226254000-226258800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:226254000-226258800	Strong transcription	Spleen	Spleen
37	chr1:226254000-226267400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:226254200-226256400	Genic enhancers	Fetal Lung	lung
39	chr1:226254200-226256600	Enhancers	Fetal Heart	heart
40	chr1:226254200-226258000	Strong transcription	NHDF-Ad	bronchial
41	chr1:226254200-226260600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr1:226254200-226261200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:226254400-226256400	Genic enhancers	Primary hematopoietic stem cells	blood
44	chr1:226254400-226256600	Genic enhancers	K562	blood
45	chr1:226254400-226256800	Strong transcription	HMEC	breast
46	chr1:226254400-226259000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:226254400-226263000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:226254600-226256000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:226254600-226256000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:226254600-226256000	Weak transcription	Brain Angular Gyrus	brain

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