Variant report

Variant	rs7665188
Chromosome Location	chr4:6990437-6990438
allele	C/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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6990131..6992286-chr4:6999504..7002082,2	MCF-7	breast:
2	chr4:6987851..6990703-chr4:7053695..7056080,2	MCF-7	breast:
3	chr4:6782714..6785893-chr4:6989936..6993084,3	K562	blood:
4	chr4:6989642..6991738-chr4:7006793..7008969,2	K562	blood:
5	chr4:6716379..6718231-chr4:6987707..6990478,2	K562	blood:
6	chr4:6989598..6991738-chr4:7007469..7010160,2	K562	blood:
7	chr4:6783058..6785294-chr4:6987568..6991326,3	MCF-7	breast:
8	chr4:6981814..6984780-chr4:6988944..6991170,2	MCF-7	breast:
9	chr4:6988801..6990522-chr4:7000909..7003794,2	MCF-7	breast:
10	chr4:6690654..6692400-chr4:6990109..6991782,2	K562	blood:
11	chr4:6909371..6913138-chr4:6987040..6991863,16	MCF-7	breast:
12	chr4:6987653..6990708-chr4:7043238..7045970,4	MCF-7	breast:
13	chr4:6715191..6718231-chr4:6987509..6990478,3	K562	blood:
14	chr4:6909040..6912883-chr4:6987028..6993211,15	MCF-7	breast:
15	chr4:6989121..6990738-chr4:7030728..7033595,2	MCF-7	breast:
16	chr4:6988789..6991540-chr4:7069432..7071324,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000132405	Chromatin interaction
ENSG00000170871	Chromatin interaction
ENSG00000173011	Chromatin interaction
ENSG00000186222	Chromatin interaction
ENSG00000246526	Chromatin interaction
ENSG00000109519	Chromatin interaction
ENSG00000173013	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4234794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62289160	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62289165	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6846823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7673889	1.00[AMR][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	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 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	chr4:6989000-6990600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr4:6989000-6990600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr4:6989200-6990600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
4	chr4:6989200-6990600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr4:6989200-6990600	Flanking Active TSS	K562	blood
6	chr4:6989400-6990600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr4:6989400-6990600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:6989400-6990600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:6989400-6990600	Flanking Active TSS	Dnd41	blood
10	chr4:6989600-6990600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:6989600-6990600	Flanking Active TSS	Fetal Lung	lung
12	chr4:6989600-6990600	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr4:6989600-6991000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:6989600-6991200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:6989600-6991400	Enhancers	Pancreas	Pancrea
16	chr4:6989600-6994400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr4:6989800-6990600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr4:6989800-6990600	Enhancers	Primary hematopoietic stem cells	blood
19	chr4:6989800-6990600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:6989800-6990800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:6989800-6991000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:6989800-6991200	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr4:6989800-6991200	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr4:6989800-6991200	Flanking Active TSS	Fetal Brain Female	brain
25	chr4:6989800-6991200	Enhancers	Placenta	Placenta
26	chr4:6989800-6991200	Enhancers	Gastric	stomach
27	chr4:6989800-6991400	Enhancers	Stomach Mucosa	stomach
28	chr4:6989800-6991600	Enhancers	Primary T cells from cord blood	blood
29	chr4:6989800-6991600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr4:6989800-6991600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:6989800-6991600	Enhancers	Liver	Liver
32	chr4:6989800-6991600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr4:6989800-6992000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr4:6989800-6994000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr4:6989800-6998000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:6990000-6990600	Flanking Active TSS	HMEC	breast
37	chr4:6990000-6990600	Flanking Active TSS	NHDF-Ad	bronchial
38	chr4:6990000-6990800	Enhancers	Primary B cells from cord blood	blood
39	chr4:6990000-6991000	Enhancers	Fetal Stomach	stomach
40	chr4:6990000-6991200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:6990000-6991200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr4:6990000-6991200	Enhancers	Fetal Intestine Large	intestine
43	chr4:6990000-6991400	Enhancers	Lung	lung
44	chr4:6990000-6991600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr4:6990000-6991800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr4:6990000-6992200	Enhancers	Primary B cells from peripheral blood	blood
47	chr4:6990000-6992600	Enhancers	Spleen	Spleen
48	chr4:6990000-6993000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr4:6990000-6993200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr4:6990000-6994200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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