Variant report

Variant	rs11772505
Chromosome Location	chr7:80488325-80488326
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:80487967..80490078-chr7:80500465..80502324,2	MCF-7	breast:
2	chr7:80484916..80486773-chr7:80487688..80489327,2	MCF-7	breast:
3	chr7:80487641..80491153-chr7:80504899..80508832,4	MCF-7	breast:
4	chr7:80483949..80488794-chr7:80543967..80547948,5	MCF-7	breast:
5	chr7:80488073..80490301-chr7:80516481..80518081,2	MCF-7	breast:
6	chr7:80487627..80489862-chr7:80494546..80496217,2	MCF-7	breast:
7	chr7:80473663..80476537-chr7:80486237..80488961,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075223	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17154592	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55740131	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59069438	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59333816	0.96[EUR][1000 genomes]
rs73376611	0.96[EUR][1000 genomes]
rs73376616	1.00[ASN][1000 genomes]
rs73376617	1.00[ASN][1000 genomes]
rs73376678	1.00[ASN][1000 genomes]
rs73709364	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9641941	0.96[EUR][1000 genomes]
rs9641942	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1028776	chr7:80414636-80555284	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv1793009	chr7:80483745-80490446	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80460400-80514600	Weak transcription	Left Ventricle	heart
2	chr7:80471800-80532600	Weak transcription	Fetal Stomach	stomach
3	chr7:80472600-80498400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:80474400-80492000	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:80474400-80499400	Weak transcription	Psoas Muscle	Psoas
6	chr7:80480800-80494000	Weak transcription	Aorta	Aorta
7	chr7:80484800-80506200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:80485600-80489200	Enhancers	Fetal Intestine Small	intestine
9	chr7:80486000-80489800	Enhancers	NHLF	lung
10	chr7:80486200-80488400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:80486200-80489000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:80486400-80488600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:80486400-80489000	Enhancers	Rectal Smooth Muscle	rectum
14	chr7:80486400-80490000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:80486400-80502400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:80486800-80488800	Weak transcription	Fetal Brain Male	brain
17	chr7:80487000-80489400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:80487000-80489400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:80487000-80490000	Enhancers	Fetal Intestine Large	intestine
20	chr7:80487200-80489000	Enhancers	HSMM	muscle
21	chr7:80487200-80489200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr7:80487200-80489400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:80487400-80488400	Genic enhancers	HMEC	breast
24	chr7:80487400-80488600	Enhancers	Duodenum Mucosa	Duodenum
25	chr7:80487400-80488600	Enhancers	HepG2	liver
26	chr7:80487400-80488800	Enhancers	Stomach Mucosa	stomach
27	chr7:80487400-80489000	Enhancers	Fetal Heart	heart
28	chr7:80487400-80489000	Enhancers	Stomach Smooth Muscle	stomach
29	chr7:80487400-80489200	Flanking Active TSS	A549	lung
30	chr7:80487400-80489200	Enhancers	Osteobl	bone
31	chr7:80487400-80489400	Enhancers	NH-A	brain
32	chr7:80487400-80489800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:80487400-80489800	Enhancers	NHEK	skin
34	chr7:80487400-80490200	Enhancers	Fetal Lung	lung
35	chr7:80487400-80490200	Enhancers	HSMMtube	muscle
36	chr7:80487600-80488400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:80487600-80488400	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr7:80487600-80488400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr7:80487600-80489200	Enhancers	Adipose Nuclei	Adipose
40	chr7:80487600-80490200	Enhancers	NHDF-Ad	bronchial
41	chr7:80487800-80488800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:80487800-80489600	Enhancers	Colon Smooth Muscle	Colon
43	chr7:80487800-80498000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr7:80488000-80489000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:80488000-80489200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:80488000-80489800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:80488000-80490000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr7:80488200-80489000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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