Variant report

Variant	rs9474694
Chromosome Location	chr6:53863136-53863137
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10755769	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10948779	1.00[CHB][hapmap]
rs2745462	1.00[CHB][hapmap]
rs2820215	1.00[CHB][hapmap]
rs2820216	1.00[CHB][hapmap]
rs28638797	1.00[EUR][1000 genomes]
rs3000997	1.00[CHB][hapmap]
rs3000999	1.00[CHB][hapmap]
rs3001009	1.00[CHB][hapmap]
rs6458972	1.00[CHB][hapmap]
rs6924025	1.00[CHB][hapmap]
rs742524	1.00[CHB][hapmap]
rs9296721	1.00[CHB][hapmap]
rs9367544	1.00[CHB][hapmap]
rs9370239	1.00[CHB][hapmap]
rs9395886	1.00[CHB][hapmap]
rs9464014	1.00[EUR][1000 genomes]
rs9464015	1.00[EUR][1000 genomes]
rs9474703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2758055	chr6:53839373-53996093	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2759431	chr6:53839373-54007349	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1018062	chr6:53842588-53925192	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv515808	chr6:53855489-53865667	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv2763552	chr6:53856580-53864523	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53852400-53867800	Weak transcription	Fetal Heart	heart
2	chr6:53861000-53867200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr6:53861200-53863400	Weak transcription	NHEK	skin
4	chr6:53861200-53863800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:53861200-53866200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:53861200-53866400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:53862000-53870000	Weak transcription	Aorta	Aorta
8	chr6:53862200-53865600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr6:53862400-53863600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:53862600-53863200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr6:53862800-53863200	Enhancers	Liver	Liver
12	chr6:53862800-53864200	Enhancers	Fetal Intestine Large	intestine
13	chr6:53863000-53863200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:53863000-53863200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr6:53863000-53863400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:53863000-53864200	Enhancers	Small Intestine	intestine
17	chr6:53863000-53864800	Enhancers	HepG2	liver

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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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