Variant report

Variant	rs66566834
Chromosome Location	chr2:40554701-40554702
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40547974..40550483-chr2:40553546..40555162,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1002671	0.91[ASN][1000 genomes]
rs10490053	0.89[ASN][1000 genomes]
rs11902975	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12995402	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13001457	0.91[ASN][1000 genomes]
rs13001473	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13005761	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13026979	0.86[ASN][1000 genomes]
rs13031392	0.86[ASN][1000 genomes]
rs17025769	0.90[ASN][1000 genomes]
rs17025783	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17025800	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17025804	0.94[ASN][1000 genomes]
rs17025810	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1990607	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2192769	0.89[ASN][1000 genomes]
rs2192770	0.89[ASN][1000 genomes]
rs2192771	0.82[ASN][1000 genomes]
rs2287051	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2287053	0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34409901	0.85[ASN][1000 genomes]
rs34512805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34562238	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34609846	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34718894	0.88[ASN][1000 genomes]
rs35042618	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35264779	0.94[ASN][1000 genomes]
rs35639785	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35776185	0.91[ASN][1000 genomes]
rs35892964	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35970998	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35977357	0.93[ASN][1000 genomes]
rs4952403	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4952603	0.90[ASN][1000 genomes]
rs4952604	0.90[ASN][1000 genomes]
rs4952605	0.90[ASN][1000 genomes]
rs4952607	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4952608	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4952609	0.88[EUR][1000 genomes]
rs56707698	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62150808	0.91[ASN][1000 genomes]
rs62150809	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62150812	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6716469	0.94[EUR][1000 genomes]
rs6729923	0.95[ASN][1000 genomes]
rs6730154	0.95[ASN][1000 genomes]
rs68003012	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72796683	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72796684	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs741287	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs759387	0.88[ASN][1000 genomes]
rs994419	0.86[ASN][1000 genomes]
rs994420	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1010508	chr2:40526981-40590777	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv535655	chr2:40526981-40590777	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40542400-40559800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:40542800-40556400	Weak transcription	Fetal Stomach	stomach
3	chr2:40543200-40578800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:40545200-40559200	Weak transcription	HSMM	muscle
5	chr2:40545600-40556000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:40546600-40555600	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:40549200-40559800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:40549400-40559000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:40549400-40565200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr2:40549800-40556200	Weak transcription	NHDF-Ad	bronchial
11	chr2:40550400-40560400	Enhancers	Fetal Heart	heart
12	chr2:40552200-40556200	Weak transcription	Right Atrium	heart
13	chr2:40552600-40555600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:40552600-40556600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:40552600-40556600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:40552600-40558800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:40552800-40590600	Weak transcription	Fetal Kidney	kidney
18	chr2:40553400-40555800	Weak transcription	Left Ventricle	heart
19	chr2:40553600-40554800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:40553600-40555600	Weak transcription	Right Ventricle	heart
21	chr2:40553600-40555800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:40554600-40556000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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