Variant report

Variant	rs73312680
Chromosome Location	chr7:18868373-18868374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10247184	0.80[ASN][1000 genomes]
rs12056184	0.86[ASN][1000 genomes]
rs12056282	0.95[ASN][1000 genomes]
rs13230142	0.89[ASN][1000 genomes]
rs13234562	0.92[ASN][1000 genomes]
rs17140086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17140133	0.83[ASN][1000 genomes]
rs17140138	0.83[ASN][1000 genomes]
rs35936891	0.89[ASN][1000 genomes]
rs3852253	0.84[ASN][1000 genomes]
rs3852254	0.91[ASN][1000 genomes]
rs3852255	0.91[ASN][1000 genomes]
rs55885016	0.88[ASN][1000 genomes]
rs55930836	0.89[ASN][1000 genomes]
rs7789261	0.81[ASN][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	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv887813	chr7:18720135-18995552	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv887814	chr7:18751998-18886177	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island 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	chr7:18854000-18874400	Weak transcription	Aorta	Aorta
2	chr7:18866200-18869000	Weak transcription	Osteobl	bone
3	chr7:18866800-18885200	Weak transcription	Primary B cells from cord blood	blood
4	chr7:18867200-18882400	Weak transcription	Left Ventricle	heart
5	chr7:18867800-18870000	Enhancers	HSMM	muscle
6	chr7:18868000-18868400	Enhancers	NHDF-Ad	bronchial
7	chr7:18868000-18868600	Enhancers	Adipose Nuclei	Adipose
8	chr7:18868000-18869000	Enhancers	Fetal Muscle Leg	muscle
9	chr7:18868000-18869400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:18868000-18869600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr7:18868000-18870000	Enhancers	Fetal Stomach	stomach
12	chr7:18868200-18868600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:18868200-18868600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:18868200-18869800	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr7:18868200-18870000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:18868200-18870400	Enhancers	Rectal Smooth Muscle	rectum
17	chr7:18868200-18879400	Weak transcription	HSMMtube	muscle

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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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