Variant report

Variant	rs73927126
Chromosome Location	chr2:40368749-40368750
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs5550	1.00[AMR][1000 genomes]
rs56407349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57032634	1.00[AMR][1000 genomes]
rs60228195	1.00[AMR][1000 genomes]
rs61390507	0.81[AFR][1000 genomes]
rs73924751	1.00[AMR][1000 genomes]
rs73924754	1.00[AMR][1000 genomes]
rs73927110	1.00[AMR][1000 genomes]
rs73927111	1.00[AMR][1000 genomes]
rs73927112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927114	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927115	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927116	0.91[AFR][1000 genomes]
rs73927117	0.91[AFR][1000 genomes]
rs73927118	0.91[AFR][1000 genomes]
rs73927123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927128	1.00[AFR][1000 genomes]
rs73927130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
8	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
9	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
10	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
11	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
12	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
13	nsv873909	chr2:40358526-40371095	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40355400-40383800	Weak transcription	Small Intestine	intestine
2	chr2:40355800-40370000	Weak transcription	Fetal Brain Male	brain
3	chr2:40356800-40375000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr2:40357600-40374000	Weak transcription	HSMMtube	muscle
5	chr2:40357800-40406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:40358000-40392200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:40358200-40392200	Weak transcription	NHLF	lung
8	chr2:40358800-40369200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:40358800-40389200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:40359000-40387400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:40361000-40375000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:40361800-40369200	Strong transcription	Dnd41	blood
13	chr2:40363800-40369200	Strong transcription	HSMM	muscle
14	chr2:40364200-40377400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:40364400-40383800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:40364600-40375000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:40364600-40387000	Weak transcription	Placenta	Placenta
18	chr2:40364800-40369200	Strong transcription	Stomach Smooth Muscle	stomach
19	chr2:40364800-40380400	Weak transcription	Fetal Intestine Small	intestine
20	chr2:40365200-40369200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:40365200-40372800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:40365200-40396200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:40365600-40368800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:40366200-40368800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:40366600-40403000	Weak transcription	Brain Germinal Matrix	brain
26	chr2:40366800-40368800	Strong transcription	Left Ventricle	heart
27	chr2:40366800-40376800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:40366800-40382800	Weak transcription	Right Ventricle	heart
29	chr2:40366800-40383000	Weak transcription	Aorta	Aorta
30	chr2:40366800-40387200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:40366800-40391800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:40367000-40374800	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:40367000-40382800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:40367000-40384400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:40368200-40369000	Strong transcription	Colon Smooth Muscle	Colon
36	chr2:40368200-40369200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:40368400-40370200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:40368400-40372400	Weak transcription	Fetal Heart	heart
39	chr2:40368400-40373400	Weak transcription	Fetal Stomach	stomach
40	chr2:40368400-40377400	Weak transcription	Brain Anterior Caudate	brain
41	chr2:40368600-40369200	Enhancers	H9 Cell Line	embryonic stem cell
42	chr2:40368600-40383000	Weak transcription	Fetal Brain Female	brain
43	chr2:40368600-40383800	Weak transcription	Osteobl	bone

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