Variant report

Variant	rs1526027
Chromosome Location	chr2:39778363-39778364
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	chr2:39772343..39775422-chr2:39777666..39780390,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12712645	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12994521	0.81[EUR][1000 genomes]
rs13015976	0.93[EUR][1000 genomes]
rs1405085	0.93[EUR][1000 genomes]
rs2241162	0.83[AMR][1000 genomes]
rs34677610	0.89[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4670944	0.94[EUR][1000 genomes]
rs6740771	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6745941	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71439259	0.94[EUR][1000 genomes]
rs714855	0.82[AMR][1000 genomes]
rs7586289	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7608399	0.82[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39762200-39785000	Weak transcription	HSMMtube	muscle
2	chr2:39770800-39789600	Weak transcription	Left Ventricle	heart
3	chr2:39775800-39780400	Enhancers	HepG2	liver
4	chr2:39776400-39778400	Enhancers	Stomach Mucosa	stomach
5	chr2:39776400-39779000	Enhancers	Fetal Intestine Small	intestine
6	chr2:39776600-39778600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr2:39777000-39778400	Enhancers	Fetal Kidney	kidney
8	chr2:39777000-39778800	Enhancers	Fetal Heart	heart
9	chr2:39777000-39779200	Enhancers	HUVEC	blood vessel
10	chr2:39777200-39778400	Enhancers	Liver	Liver
11	chr2:39777400-39778800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:39777600-39778400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:39777600-39778400	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr2:39777600-39778400	Enhancers	NH-A	brain
15	chr2:39777600-39778600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:39777600-39778800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:39777600-39779200	Enhancers	Hela-S3	cervix
18	chr2:39777800-39778400	Enhancers	A549	lung
19	chr2:39777800-39778600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:39777800-39778600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:39777800-39778600	Enhancers	HSMM	muscle
22	chr2:39777800-39778600	Enhancers	NHEK	skin
23	chr2:39778000-39779000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:39778000-39788000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:39778200-39778600	Enhancers	Colon Smooth Muscle	Colon

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