Variant report

Variant	rs727241
Chromosome Location	chr2:145694454-145694455
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:145691983..145697033-chr2:145697956..145702108,6	K562	blood:
2	chr2:145692796..145697382-chr2:145698219..145701649,5	K562	blood:
3	chr2:145687133..145689183-chr2:145693172..145695781,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10168164	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10201023	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10210406	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1085418	0.92[EUR][1000 genomes]
rs10928236	0.87[EUR][1000 genomes]
rs13391247	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13422231	0.89[EUR][1000 genomes]
rs13427288	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13427617	0.88[EUR][1000 genomes]
rs13428413	0.95[ASN][1000 genomes]
rs1406118	0.92[EUR][1000 genomes]
rs1528187	0.91[EUR][1000 genomes]
rs1550324	0.92[EUR][1000 genomes]
rs17407498	0.87[ASN][1000 genomes]
rs17407958	0.88[EUR][1000 genomes]
rs1852654	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs1881266	0.92[EUR][1000 genomes]
rs2165022	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2697042	0.84[EUR][1000 genomes]
rs2697046	0.87[EUR][1000 genomes]
rs28372104	0.81[ASN][1000 genomes]
rs2918593	0.89[EUR][1000 genomes]
rs4662407	0.92[EUR][1000 genomes]
rs4662408	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4662410	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4662412	0.88[EUR][1000 genomes]
rs57969627	0.84[ASN][1000 genomes]
rs7589880	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7591518	0.81[ASN][1000 genomes]
rs7596337	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7598305	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs786216	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs786236	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs786238	0.92[EUR][1000 genomes]
rs786240	0.92[EUR][1000 genomes]
rs786259	0.92[EUR][1000 genomes]
rs786261	0.91[EUR][1000 genomes]
rs809252	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs727241	CMIP	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145668800-145695600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:145692800-145695400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:145692800-145695600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:145692800-145696000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:145692800-145696000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:145692800-145696600	Enhancers	Fetal Kidney	kidney
7	chr2:145693400-145695200	Weak transcription	Right Atrium	heart
8	chr2:145693600-145694800	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:145693600-145695200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:145693600-145695200	Enhancers	NHDF-Ad	bronchial
11	chr2:145693600-145695600	Enhancers	Osteobl	bone
12	chr2:145693600-145695800	Enhancers	Ovary	ovary
13	chr2:145693800-145696000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr2:145694000-145695800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:145694000-145695800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr2:145694200-145695600	Enhancers	Adipose Nuclei	Adipose
17	chr2:145694200-145695800	Enhancers	Fetal Lung	lung
18	chr2:145694200-145696200	Enhancers	Aorta	Aorta
19	chr2:145694200-145696800	Enhancers	Colon Smooth Muscle	Colon
20	chr2:145694400-145695600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:145694400-145696000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr2:145694400-145696400	Enhancers	Fetal Stomach	stomach

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