Variant report

Variant	rs4255512
Chromosome Location	chr11:101313991-101313992
allele	A/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:101210889..101216560-chr11:101311326..101315087,6	MCF-7	breast:
2	chr11:101168163..101170220-chr11:101312254..101314141,3	MCF-7	breast:
3	chr11:101195442..101202127-chr11:101308962..101315927,5	MCF-7	breast:
4	chr11:101311732..101314257-chr11:101315971..101319551,3	MCF-7	breast:
5	chr11:101299826..101304335-chr11:101307356..101314246,9	MCF-7	breast:
6	chr11:100997989..101001513-chr11:101311577..101317753,7	MCF-7	breast:
7	chr11:101305136..101310354-chr11:101310861..101314380,7	MCF-7	breast:
8	chr11:101310309..101314049-chr11:101319815..101323131,4	MCF-7	breast:
9	chr11:100994873..100997835-chr11:101312314..101314341,3	MCF-7	breast:
10	chr11:100903142..100906263-chr11:101312314..101315427,3	MCF-7	breast:
11	chr11:101223010..101225906-chr11:101312280..101315324,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000082175	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10082588	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10444351	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10791472	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10791473	0.81[AMR][1000 genomes]
rs10791474	0.83[AMR][1000 genomes]
rs10791475	0.83[AMR][1000 genomes]
rs10895109	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10895110	0.83[AMR][1000 genomes]
rs10895112	0.81[AMR][1000 genomes]
rs10895113	0.83[AMR][1000 genomes]
rs10895114	0.83[AMR][1000 genomes]
rs11224762	0.96[ASN][1000 genomes]
rs11224763	0.98[ASN][1000 genomes]
rs11224764	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11224765	0.98[ASN][1000 genomes]
rs11224766	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11224768	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11224769	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11224770	0.83[AMR][1000 genomes]
rs11224771	0.83[AMR][1000 genomes]
rs11819801	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12276736	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12797690	0.83[AMR][1000 genomes]
rs12804368	0.98[ASN][1000 genomes]
rs12804595	0.81[AMR][1000 genomes]
rs3824933	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4271356	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4396256	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4405276	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4489713	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4522135	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6590859	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6590860	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6590861	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6590862	0.83[AMR][1000 genomes]
rs7105083	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7110162	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7113655	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7120857	0.83[AMR][1000 genomes]
rs7121124	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7928028	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7928922	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7930422	0.81[AMR][1000 genomes]
rs7931399	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7935581	0.83[AMR][1000 genomes]
rs7936768	0.81[AMR][1000 genomes]
rs7942665	0.81[AMR][1000 genomes]
rs7947695	0.81[AMR][1000 genomes]
rs7948940	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950048	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7951897	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7952146	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][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	nsv556131	chr11:100985777-101480017	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv530644	chr11:101010088-101486038	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv898330	chr11:101243644-101722031	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv468851	chr11:101268447-101330807	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv556132	chr11:101268447-101330807	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101302000-101316800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:101309200-101314800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:101311600-101315400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr11:101311600-101317600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:101311600-101319600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr11:101311800-101315400	Enhancers	Ovary	ovary
7	chr11:101311800-101315400	Enhancers	Pancreas	Pancrea
8	chr11:101311800-101317400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:101312000-101314000	Enhancers	Right Atrium	heart
10	chr11:101312000-101314200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr11:101312000-101314400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:101312000-101318000	Enhancers	HSMM	muscle
13	chr11:101312000-101318800	Enhancers	NHLF	lung
14	chr11:101312200-101318400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:101312400-101315200	Enhancers	Left Ventricle	heart
16	chr11:101312400-101315400	Enhancers	Spleen	Spleen
17	chr11:101312400-101317400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:101312600-101315000	Weak transcription	Right Ventricle	heart
19	chr11:101312600-101315000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr11:101312600-101316800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:101312600-101318400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:101312800-101316200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:101312800-101318600	Enhancers	Osteobl	bone
24	chr11:101313000-101314000	Weak transcription	Adipose Nuclei	Adipose
25	chr11:101313000-101314200	Weak transcription	Fetal Lung	lung
26	chr11:101313000-101314600	Weak transcription	Fetal Muscle Leg	muscle
27	chr11:101313000-101315200	Weak transcription	HSMMtube	muscle
28	chr11:101313200-101314600	Weak transcription	Fetal Heart	heart
29	chr11:101313200-101316600	Weak transcription	NH-A	brain
30	chr11:101313400-101314800	Weak transcription	HMEC	breast
31	chr11:101313600-101314200	Enhancers	Liver	Liver
32	chr11:101313600-101316000	Enhancers	Stomach Mucosa	stomach
33	chr11:101313800-101314000	Active TSS	Duodenum Mucosa	Duodenum
34	chr11:101313800-101314000	Enhancers	Lung	lung
35	chr11:101313800-101314200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:101313800-101314200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:101313800-101314200	Active TSS	Hela-S3	cervix
38	chr11:101313800-101314400	Enhancers	Aorta	Aorta
39	chr11:101313800-101314400	Flanking Active TSS	NHDF-Ad	bronchial
40	chr11:101313800-101314800	Weak transcription	A549	lung
41	chr11:101313800-101315200	Enhancers	Gastric	stomach

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