Variant report

Variant	rs2019379
Chromosome Location	chr2:40985943-40985944
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	chr2:40984676..40988273-chr2:40989890..40992404,3	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1003618	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10177056	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10178374	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10178666	0.85[ASN][1000 genomes]
rs10180556	0.87[AMR][1000 genomes]
rs10469903	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469904	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11124758	0.87[AMR][1000 genomes]
rs1119785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12475258	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12478853	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12619861	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13016243	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1379037	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1456578	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1456581	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1456582	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1456583	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1456588	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1456589	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1468799	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs173799	0.86[ASN][1000 genomes]
rs173802	1.00[ASN][1000 genomes]
rs173803	1.00[ASN][1000 genomes]
rs173805	1.00[ASN][1000 genomes]
rs1840756	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1861308	0.87[AMR][1000 genomes]
rs1990618	0.85[ASN][1000 genomes]
rs2019768	0.87[AMR][1000 genomes]
rs2077825	0.85[ASN][1000 genomes]
rs2192821	0.87[AMR][1000 genomes]
rs2216035	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2216040	0.85[ASN][1000 genomes]
rs2216042	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2373898	0.93[ASN][1000 genomes]
rs2373904	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2373936	0.83[AMR][1000 genomes]
rs3922281	0.85[ASN][1000 genomes]
rs42784	1.00[ASN][1000 genomes]
rs4539838	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4952636	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4952642	0.87[AMR][1000 genomes]
rs6544354	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6709044	0.84[AMR][1000 genomes]
rs6709173	0.84[AMR][1000 genomes]
rs6713163	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6728651	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6743662	0.84[AMR][1000 genomes]
rs6750481	0.87[AMR][1000 genomes]
rs6753289	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs67806170	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7369131	0.87[AMR][1000 genomes]
rs7556714	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs756376	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7564682	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7587020	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7588298	0.80[AMR][1000 genomes]
rs7591373	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7591414	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7596941	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7605586	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9309059	0.84[AMR][1000 genomes]
rs993867	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv873917	chr2:40710953-41015998	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv528865	chr2:40805427-41218810	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv873926	chr2:40835285-40986860	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv873927	chr2:40835285-41034225	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv470455	chr2:40835285-41059164	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv873928	chr2:40835285-41075134	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv873929	chr2:40835285-41180690	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv456441	chr2:40882402-41064824	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv581514	chr2:40882402-41064824	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv456452	chr2:40890416-40989061	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv581515	chr2:40890416-40989061	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40985600-40986000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:40985600-40986000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:40985600-40986000	Flanking Active TSS	Colon Smooth Muscle	Colon
4	chr2:40985600-40986000	Enhancers	Fetal Brain Female	brain
5	chr2:40985600-40986000	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr2:40985600-40986000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr2:40985600-40986200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:40985600-40986200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:40985600-40986200	Enhancers	Adipose Nuclei	Adipose
10	chr2:40985600-40986200	Enhancers	HMEC	breast
11	chr2:40985600-40986400	Enhancers	NHEK	skin
12	chr2:40985600-40987000	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:40985600-40987800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:40985600-40987800	Enhancers	Fetal Heart	heart
15	chr2:40985800-40986000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:40985800-40986000	Flanking Active TSS	NHDF-Ad	bronchial
17	chr2:40985800-40986200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:40985800-40986200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr2:40985800-40986200	Enhancers	Fetal Brain Male	brain
20	chr2:40985800-40986600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:40985800-40987000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:40985800-40987400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:40985800-40987400	Enhancers	Osteobl	bone

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