Variant report

Variant	rs34562238
Chromosome Location	chr2:40559158-40559159
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1002671	0.88[ASN][1000 genomes]
rs10490053	0.86[ASN][1000 genomes]
rs11902975	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12995402	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13001457	0.89[ASN][1000 genomes]
rs13001473	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13005761	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13026979	0.83[ASN][1000 genomes]
rs13031392	0.87[ASN][1000 genomes]
rs17025769	0.89[ASN][1000 genomes]
rs17025783	0.88[ASN][1000 genomes]
rs17025800	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17025804	0.96[ASN][1000 genomes]
rs17025810	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1990607	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2192769	0.90[ASN][1000 genomes]
rs2192770	0.86[ASN][1000 genomes]
rs2287051	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2287053	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34409901	0.82[ASN][1000 genomes]
rs34512805	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34609846	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34718894	0.88[ASN][1000 genomes]
rs35042618	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35264779	0.96[ASN][1000 genomes]
rs35639785	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35776185	0.89[ASN][1000 genomes]
rs35892964	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35970998	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35977357	0.89[ASN][1000 genomes]
rs4952403	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4952603	0.89[ASN][1000 genomes]
rs4952604	0.89[ASN][1000 genomes]
rs4952605	0.89[ASN][1000 genomes]
rs4952607	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4952608	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4952609	0.84[EUR][1000 genomes]
rs56707698	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62150808	0.87[ASN][1000 genomes]
rs62150809	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62150812	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66566834	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6716469	0.88[EUR][1000 genomes]
rs6729923	0.93[ASN][1000 genomes]
rs6730154	0.93[ASN][1000 genomes]
rs68003012	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72796683	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72796684	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs741287	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs759387	0.88[ASN][1000 genomes]
rs994419	0.83[ASN][1000 genomes]
rs994420	0.83[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:38 , 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	chr2:40543200-40578800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:40545200-40559200	Weak transcription	HSMM	muscle
4	chr2:40549200-40559800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:40549400-40565200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:40550400-40560400	Enhancers	Fetal Heart	heart
7	chr2:40552800-40590600	Weak transcription	Fetal Kidney	kidney
8	chr2:40555600-40560000	Enhancers	Colon Smooth Muscle	Colon
9	chr2:40555600-40560200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr2:40555800-40559200	Enhancers	Rectal Smooth Muscle	rectum
11	chr2:40556600-40563000	Weak transcription	Right Ventricle	heart
12	chr2:40556800-40559200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:40556800-40559200	Weak transcription	Fetal Lung	lung
14	chr2:40557000-40559200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:40557000-40559200	Weak transcription	Fetal Intestine Small	intestine
16	chr2:40557000-40559600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:40557000-40568200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:40557400-40559600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:40557600-40559200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:40557600-40559200	Weak transcription	Fetal Intestine Large	intestine
21	chr2:40558400-40559800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:40558800-40559400	Enhancers	Primary hematopoietic stem cells	blood
23	chr2:40558800-40559600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:40558800-40559600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:40558800-40560200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:40558800-40560400	Enhancers	HUVEC	blood vessel
27	chr2:40558800-40561200	Enhancers	Left Ventricle	heart
28	chr2:40559000-40559200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:40559000-40559200	Enhancers	NH-A	brain
30	chr2:40559000-40559800	Enhancers	Fetal Muscle Leg	muscle
31	chr2:40559000-40559800	Enhancers	Fetal Stomach	stomach
32	chr2:40559000-40560000	Enhancers	A549	lung
33	chr2:40559000-40560000	Enhancers	NHDF-Ad	bronchial
34	chr2:40559000-40560200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:40559000-40560200	Enhancers	Stomach Smooth Muscle	stomach
36	chr2:40559000-40560200	Enhancers	Hela-S3	cervix
37	chr2:40559000-40560200	Enhancers	NHLF	lung
38	chr2:40559000-40560200	Enhancers	Osteobl	bone

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