Variant report

Variant	rs1027815
Chromosome Location	chr4:142050736-142050737
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10028355	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10519586	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1507178	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs187139	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs189568	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2033612	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs354939	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs354941	0.96[EUR][1000 genomes]
rs4123363	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4956515	1.00[EUR][1000 genomes]
rs4956516	1.00[EUR][1000 genomes]
rs4956517	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4956518	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62324904	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62324905	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6835953	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6853785	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72724492	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7669929	0.91[AMR][1000 genomes];1.00[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	nsv880167	chr4:141616979-142092124	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv880170	chr4:142046828-142137165	Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv526770	chr4:142048547-142061946	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142038600-142052600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:142039400-142051800	Weak transcription	Aorta	Aorta
3	chr4:142041000-142052200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:142043600-142051800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr4:142044400-142051200	Weak transcription	Osteobl	bone
6	chr4:142044600-142051600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:142044800-142051800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:142045800-142051200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:142045800-142051200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:142048200-142051800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:142048400-142053000	Weak transcription	Pancreas	Pancrea
12	chr4:142048800-142055600	Active TSS	Right Ventricle	heart
13	chr4:142049000-142051200	Enhancers	Fetal Brain Male	brain
14	chr4:142049000-142052400	Weak transcription	Brain Substantia Nigra	brain
15	chr4:142049200-142051200	Enhancers	Rectal Smooth Muscle	rectum
16	chr4:142049400-142050800	Weak transcription	Lung	lung
17	chr4:142049400-142051000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:142049400-142051400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:142049400-142051400	Weak transcription	NHDF-Ad	bronchial
20	chr4:142049600-142051200	Weak transcription	Fetal Stomach	stomach
21	chr4:142049600-142051800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:142049600-142052200	Weak transcription	Psoas Muscle	Psoas
23	chr4:142049800-142051400	Weak transcription	Adipose Nuclei	Adipose
24	chr4:142050200-142051200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:142050400-142051000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr4:142050400-142051200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr4:142050400-142051800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr4:142050400-142054800	Active TSS	Stomach Smooth Muscle	stomach
29	chr4:142050600-142051000	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr4:142050600-142051000	Flanking Active TSS	Fetal Brain Female	brain
31	chr4:142050600-142051000	Flanking Active TSS	Fetal Heart	heart
32	chr4:142050600-142051200	Bivalent Enhancer	Fetal Lung	lung
33	chr4:142050600-142051200	Active TSS	Ovary	ovary
34	chr4:142050600-142051600	Enhancers	Fetal Muscle Leg	muscle
35	chr4:142050600-142052000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr4:142050600-142053000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:142050600-142054800	Active TSS	Brain Anterior Caudate	brain
38	chr4:142050600-142054800	Active TSS	Right Atrium	heart
39	chr4:142050600-142055800	Active TSS	Left Ventricle	heart

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