Variant report

Variant	rs2220556
Chromosome Location	chr1:171625677-171625678
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
MYOC	TF binding region
ENSG00000034971	Chromatin interaction
ENSG00000117533	Chromatin interaction
ENSG00000117523	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12142786	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv872544	chr1:171616822-171654968	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171620400-171627600	Enhancers	Fetal Muscle Leg	muscle
2	chr1:171621000-171625800	Enhancers	Fetal Stomach	stomach
3	chr1:171623400-171626000	Enhancers	Fetal Intestine Large	intestine
4	chr1:171623600-171625800	Enhancers	Left Ventricle	heart
5	chr1:171623800-171626000	Enhancers	Fetal Muscle Trunk	muscle
6	chr1:171624200-171630400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:171624600-171635200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:171624800-171625800	Weak transcription	Lung	lung
9	chr1:171624800-171626000	Enhancers	Adipose Nuclei	Adipose
10	chr1:171624800-171626000	Enhancers	Fetal Intestine Small	intestine
11	chr1:171624800-171629400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:171624800-171633200	Weak transcription	Psoas Muscle	Psoas
13	chr1:171625000-171627200	Enhancers	Fetal Heart	heart
14	chr1:171625000-171627400	Weak transcription	Ovary	ovary
15	chr1:171625200-171633400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:171625400-171626000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:171625400-171632600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:171625400-171632800	Weak transcription	Right Ventricle	heart

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Input of quick search could be:

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

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