Variant report

Variant	rs7413066
Chromosome Location	chr1:84946745-84946746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:84945634..84947258-chr1:85153889..85156502,2	K562	blood:
2	chr1:84946730..84947401-chr9:80911526..80912502,2	HCT-116	colon:
3	chr1:84943703..84948095-chr1:85037647..85043843,8	K562	blood:
4	chr1:84765808..84767323-chr1:84944913..84947326,2	K562	blood:
5	chr1:84946525..84949349-chr1:84951021..84952787,2	MCF-7	breast:
6	chr1:84944684..84947410-chr1:84970225..84973395,6	MCF-7	breast:
7	chr1:84940376..84943283-chr1:84945216..84947221,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122432	Chromatin interaction
ENSG00000135069	Chromatin interaction
ENSG00000117151	Chromatin interaction
ENSG00000117155	Chromatin interaction
ENSG00000203943	Chromatin interaction
ENSG00000174021	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10082140	1.00[EUR][1000 genomes]
rs10082196	1.00[EUR][1000 genomes]
rs10874447	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10874448	0.86[AFR][1000 genomes]
rs11164008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11808831	1.00[EUR][1000 genomes]
rs12057445	1.00[EUR][1000 genomes]
rs12063628	1.00[EUR][1000 genomes]
rs12063669	1.00[EUR][1000 genomes]
rs1340522	1.00[EUR][1000 genomes]
rs1515142	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1533373	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131643	1.00[EUR][1000 genomes]
rs172736	1.00[EUR][1000 genomes]
rs2911584	1.00[AMR][1000 genomes]
rs2911608	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2943665	1.00[AMR][1000 genomes]
rs2994924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2994925	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs312398	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6671641	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs72943947	1.00[EUR][1000 genomes]
rs7529017	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7533636	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs7546355	1.00[EUR][1000 genomes]
rs784834	1.00[EUR][1000 genomes]
rs9804106	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats 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	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84944400-84947000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:84944600-84947000	Active TSS	Aorta	Aorta
3	chr1:84944800-84946800	Active TSS	GM12878-XiMat	blood
4	chr1:84945600-84947000	Flanking Active TSS	Dnd41	blood
5	chr1:84945600-84949000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:84945800-84946800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr1:84945800-84947200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:84946000-84946800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:84946000-84946800	Weak transcription	Fetal Kidney	kidney
10	chr1:84946000-84946800	Weak transcription	Ovary	ovary
11	chr1:84946000-84946800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:84946000-84947000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:84946000-84947000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:84946000-84947000	Enhancers	Primary B cells from peripheral blood	blood
15	chr1:84946000-84947000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:84946000-84947000	Enhancers	Fetal Lung	lung
17	chr1:84946000-84947000	Weak transcription	Placenta	Placenta
18	chr1:84946000-84947000	Weak transcription	Left Ventricle	heart
19	chr1:84946000-84947000	Weak transcription	Lung	lung
20	chr1:84946000-84947000	Weak transcription	Pancreas	Pancrea
21	chr1:84946000-84947000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr1:84946000-84947400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:84946000-84947400	Enhancers	Fetal Heart	heart
24	chr1:84946000-84947400	Enhancers	Small Intestine	intestine
25	chr1:84946000-84948600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr1:84946000-84949000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:84946000-84949000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:84946000-84956400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:84946000-84956400	Weak transcription	Gastric	stomach
30	chr1:84946000-84956400	Weak transcription	Spleen	Spleen
31	chr1:84946000-84965800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:84946000-84967000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:84946000-84969600	Weak transcription	Esophagus	oesophagus
34	chr1:84946000-84970400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:84946000-84970800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:84946200-84946800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr1:84946200-84947000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr1:84946200-84947000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:84946200-84947200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:84946200-84947200	Flanking Active TSS	Hela-S3	cervix
41	chr1:84946200-84947400	Enhancers	Colon Smooth Muscle	Colon
42	chr1:84946200-84947600	Weak transcription	Brain Substantia Nigra	brain
43	chr1:84946200-84948600	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr1:84946200-84948600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:84946200-84949000	Weak transcription	Fetal Stomach	stomach
46	chr1:84946200-84949200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:84946200-84955200	Weak transcription	Right Ventricle	heart
48	chr1:84946200-84956200	Weak transcription	Colonic Mucosa	Colon
49	chr1:84946200-84962800	Weak transcription	HSMMtube	muscle
50	chr1:84946400-84946800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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