Variant report

Variant	rs11698028
Chromosome Location	chr20:1384215-1384216
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1294688	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6041703	1.00[JPT][hapmap]
rs6041716	1.00[JPT][hapmap]
rs6078809	1.00[JPT][hapmap]
rs6078982	1.00[ASN][1000 genomes]
rs61275523	0.86[AFR][1000 genomes]
rs912113	1.00[JPT][hapmap]
rs9647031	1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522008	chr20:1340390-1638578	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv432095	chr20:1382500-1420340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11698028	HSPA12B	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1378600-1384400	Enhancers	Fetal Intestine Small	intestine
2	chr20:1380000-1384400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:1380600-1388400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr20:1382400-1386000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr20:1382400-1388400	Weak transcription	Placenta	Placenta
6	chr20:1383200-1388000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr20:1383600-1385600	Weak transcription	Fetal Intestine Large	intestine
8	chr20:1383800-1396000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr20:1384200-1384400	Enhancers	HMEC	breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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