Variant report

Variant	rs6030245
Chromosome Location	chr20:41070559-41070560
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2076081	0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs2076082	0.86[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs3890324	0.87[ASW][hapmap]
rs6016796	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6016797	0.91[JPT][hapmap];0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6016798	0.82[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs6030251	0.86[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs6030252	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs6030253	0.81[ASN][1000 genomes]
rs6065482	0.95[CHD][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs6072747	0.87[ASW][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];0.89[TSI][hapmap];0.82[ASN][1000 genomes]
rs6130136	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs6130137	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv532516	chr20:40451059-41097155	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv833987	chr20:41007663-41184914	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41069600-41072400	Enhancers	Fetal Brain Male	brain
2	chr20:41069800-41072200	Enhancers	Fetal Brain Female	brain
3	chr20:41069800-41072600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr20:41069800-41072600	Enhancers	Fetal Muscle Leg	muscle
5	chr20:41070000-41070800	Enhancers	Fetal Muscle Trunk	muscle
6	chr20:41070000-41072000	Enhancers	HSMM	muscle
7	chr20:41070000-41072400	Enhancers	Adipose Nuclei	Adipose
8	chr20:41070000-41077800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr20:41070200-41070600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr20:41070200-41071800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr20:41070200-41072000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr20:41070200-41072000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr20:41070400-41070800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr20:41070400-41070800	Flanking Active TSS	Brain Germinal Matrix	brain

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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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