Variant report

Variant	rs1446742
Chromosome Location	chr2:134532237-134532238
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:134529817..134532379-chr2:134535821..134537604,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10496711	0.81[ASN][1000 genomes]
rs10928459	0.85[AMR][1000 genomes]
rs1110671	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11903316	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12473486	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12989443	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12998715	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1374407	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1446740	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1446741	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1446743	0.83[AFR][1000 genomes]
rs1446744	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1900350	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41455444	0.80[ASN][1000 genomes]
rs4386376	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4533517	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4589812	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57021484	0.85[ASN][1000 genomes]
rs6414016	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6430450	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6430451	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731434	0.82[ASN][1000 genomes]
rs6760899	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576406	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr2:134523600-134532400	Weak transcription	Right Ventricle	heart
2	chr2:134524600-134537200	Weak transcription	NHLF	lung
3	chr2:134530600-134533000	Enhancers	Fetal Lung	lung
4	chr2:134530800-134533200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:134531000-134532800	Enhancers	Colon Smooth Muscle	Colon
6	chr2:134531000-134533000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:134531000-134533200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:134531200-134532400	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr2:134531200-134532800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:134531200-134532800	Enhancers	Brain Cingulate Gyrus	brain
11	chr2:134531200-134532800	Enhancers	Fetal Heart	heart
12	chr2:134531200-134533000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:134531200-134533000	Enhancers	Brain Angular Gyrus	brain
14	chr2:134531200-134533000	Enhancers	Brain Substantia Nigra	brain
15	chr2:134531400-134532800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:134531400-134532800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:134531400-134533000	Enhancers	Adipose Nuclei	Adipose
18	chr2:134531400-134533000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr2:134531400-134533000	Enhancers	Fetal Brain Male	brain
20	chr2:134531400-134533000	Enhancers	Rectal Smooth Muscle	rectum
21	chr2:134531600-134532400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:134531600-134532600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:134531600-134532800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:134531600-134532800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:134531600-134532800	Enhancers	Fetal Stomach	stomach
26	chr2:134531600-134532800	Enhancers	Left Ventricle	heart
27	chr2:134531600-134533000	Enhancers	Fetal Muscle Leg	muscle
28	chr2:134531800-134532600	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr2:134531800-134533000	Enhancers	Fetal Brain Female	brain
30	chr2:134531800-134533000	Enhancers	Ovary	ovary
31	chr2:134532000-134532400	Enhancers	Osteobl	bone
32	chr2:134532000-134532600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr2:134532000-134532600	Enhancers	NH-A	brain
34	chr2:134532000-134532800	Enhancers	Right Atrium	heart
35	chr2:134532000-134532800	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr2:134532000-134533000	Enhancers	Aorta	Aorta
37	chr2:134532000-134533000	Enhancers	Esophagus	oesophagus
38	chr2:134532200-134532400	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr2:134532200-134532600	Enhancers	Brain Hippocampus Middle	brain
40	chr2:134532200-134532800	Enhancers	Liver	Liver
41	chr2:134532200-134537000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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