Variant report

Variant	rs379556
Chromosome Location	chr2:40395292-40395293
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17025315	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs434725	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55719982	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72792772	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72794749	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv873910	chr2:40391907-40466268	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1851152	chr2:40393223-40512023	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40357800-40406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:40365200-40396200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:40366600-40403000	Weak transcription	Brain Germinal Matrix	brain
4	chr2:40375600-40401800	Weak transcription	HSMMtube	muscle
5	chr2:40378000-40399000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:40381600-40398800	Weak transcription	Brain Angular Gyrus	brain
7	chr2:40388400-40396400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:40389400-40396200	Weak transcription	Placenta	Placenta
9	chr2:40391600-40397600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:40392000-40413200	Weak transcription	Fetal Brain Female	brain
11	chr2:40392400-40396200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:40392600-40396000	Weak transcription	HSMM	muscle
13	chr2:40392600-40405200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:40392800-40395600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:40392800-40397400	Weak transcription	Dnd41	blood
16	chr2:40393000-40395600	Weak transcription	Osteobl	bone
17	chr2:40393000-40398000	Weak transcription	Fetal Brain Male	brain
18	chr2:40393000-40420000	Weak transcription	Fetal Kidney	kidney
19	chr2:40393200-40401200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:40393400-40396200	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:40393400-40400000	Weak transcription	NHDF-Ad	bronchial
22	chr2:40393600-40395600	Weak transcription	Pancreas	Pancrea
23	chr2:40393600-40396200	Weak transcription	Right Ventricle	heart
24	chr2:40393600-40396400	Weak transcription	Left Ventricle	heart
25	chr2:40393600-40396600	Weak transcription	Gastric	stomach
26	chr2:40393600-40396800	Weak transcription	Right Atrium	heart
27	chr2:40393600-40397200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:40393600-40416800	Weak transcription	Fetal Stomach	stomach
29	chr2:40393800-40399000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:40394200-40396400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr2:40394200-40406800	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:40394600-40396800	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr2:40395000-40395800	Enhancers	HUVEC	blood vessel
34	chr2:40395200-40395400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:40395200-40395400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:40395200-40395400	Enhancers	Spleen	Spleen
37	chr2:40395200-40395600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:40395200-40395600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr2:40395200-40395600	Enhancers	Small Intestine	intestine
40	chr2:40395200-40396200	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr2:40395200-40396400	Enhancers	Duodenum Mucosa	Duodenum
42	chr2:40395200-40396600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:40395200-40396800	Enhancers	Fetal Intestine Small	intestine
44	chr2:40395200-40397000	Enhancers	Fetal Intestine Large	intestine
45	chr2:40395200-40397400	Enhancers	Fetal Heart	heart

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