Variant report

Variant	rs6487518
Chromosome Location	chr12:26092585-26092586
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10743570	0.89[YRI][hapmap]
rs10842638	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11525561	0.83[AFR][1000 genomes]
rs1183253	0.91[CHB][hapmap]
rs16929681	0.92[CEU][hapmap]
rs16929684	1.00[CEU][hapmap]
rs2054889	0.87[CEU][hapmap]
rs4963642	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7953605	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7968300	0.88[YRI][hapmap];0.86[AFR][1000 genomes]

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	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv1035319	chr12:26020667-26097148	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26085400-26110600	Weak transcription	Aorta	Aorta
2	chr12:26086800-26095000	Weak transcription	NHDF-Ad	bronchial
3	chr12:26086800-26110600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:26090200-26110200	Weak transcription	Brain Substantia Nigra	brain
5	chr12:26090400-26107800	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:26090800-26092800	Enhancers	Placenta	Placenta
7	chr12:26091000-26107000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:26091400-26110000	Weak transcription	Psoas Muscle	Psoas
9	chr12:26091800-26092600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:26091800-26095600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:26092000-26092600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr12:26092000-26092600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr12:26092000-26092800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr12:26092000-26092800	Enhancers	Ovary	ovary
15	chr12:26092000-26110600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:26092200-26092600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr12:26092200-26092800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr12:26092400-26095600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:26092400-26108600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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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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