Variant report

Variant	rs73927116
Chromosome Location	chr2:40354078-40354079
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56407349	0.91[AFR][1000 genomes]
rs61390507	0.90[AFR][1000 genomes]
rs73927112	0.91[AFR][1000 genomes]
rs73927113	0.91[AFR][1000 genomes]
rs73927114	1.00[AFR][1000 genomes]
rs73927115	1.00[AFR][1000 genomes]
rs73927117	1.00[AFR][1000 genomes]
rs73927118	1.00[AFR][1000 genomes]
rs73927123	0.91[AFR][1000 genomes]
rs73927125	0.91[AFR][1000 genomes]
rs73927126	0.91[AFR][1000 genomes]
rs73927128	0.91[AFR][1000 genomes]
rs73927130	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833892	chr2:40188785-40363480	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv873902	chr2:40231282-40466268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1004092	chr2:40264608-40451701	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1000572	chr2:40271958-40458911	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv535654	chr2:40271958-40458911	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv581502	chr2:40273903-40459645	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv873903	chr2:40285145-40382712	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv873904	chr2:40292289-40466268	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv873905	chr2:40341847-40364895	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv873906	chr2:40341847-40385045	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv873907	chr2:40349094-40381369	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv1005758	chr2:40349403-40381369	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv873908	chr2:40351453-40371095	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40321200-40354600	Weak transcription	Right Ventricle	heart
2	chr2:40328000-40365600	Weak transcription	Brain Germinal Matrix	brain
3	chr2:40333400-40354400	Weak transcription	NH-A	brain
4	chr2:40334600-40354800	Weak transcription	Fetal Brain Female	brain
5	chr2:40341600-40357000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:40342800-40357600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:40343000-40354800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:40347000-40355800	Enhancers	Fetal Thymus	thymus
9	chr2:40349800-40358200	Enhancers	Osteobl	bone
10	chr2:40349800-40359600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:40350200-40356400	Enhancers	NHLF	lung
12	chr2:40350200-40358000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:40350800-40356800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:40351000-40354400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:40351000-40358200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:40351200-40355400	Weak transcription	Ovary	ovary
17	chr2:40351200-40358000	Enhancers	NHDF-Ad	bronchial
18	chr2:40351400-40355000	Weak transcription	Fetal Brain Male	brain
19	chr2:40351400-40355600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:40351400-40357000	Weak transcription	Aorta	Aorta
21	chr2:40351600-40354600	Genic enhancers	HSMM	muscle
22	chr2:40351600-40354800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr2:40351600-40354800	Weak transcription	Right Atrium	heart
24	chr2:40351600-40360400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr2:40351800-40354400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:40351800-40354400	Weak transcription	HSMMtube	muscle
27	chr2:40351800-40354600	Weak transcription	Fetal Stomach	stomach
28	chr2:40351800-40354800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:40352200-40354600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:40352400-40354200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:40352400-40356000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:40352600-40354400	Enhancers	Fetal Heart	heart
33	chr2:40352800-40358000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:40353200-40355200	Enhancers	Dnd41	blood
35	chr2:40353400-40354600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:40353600-40355200	Enhancers	Thymus	Thymus
37	chr2:40353800-40354800	Enhancers	Primary T cells from cord blood	blood
38	chr2:40354000-40354200	Enhancers	Left Ventricle	heart
39	chr2:40354000-40358600	Enhancers	Colon Smooth Muscle	Colon

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