Variant report

Variant	rs73280500
Chromosome Location	chr14:68376953-68376954
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs34166395	1.00[AMR][1000 genomes]
rs36069478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36111142	1.00[AMR][1000 genomes]
rs73282421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282497	1.00[AFR][1000 genomes]
rs73284217	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284252	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv3341937	chr14:68376885-68377260	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv3494199	chr14:68376887-68377257	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3494200	chr14:68376905-68377227	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3494201	chr14:68376926-68377193	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3530172	chr14:68376932-68377229	Weak transcription Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3371507	chr14:68376938-68377168	Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3530173	chr14:68376946-68377184	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3494202	chr14:68376948-68377208	Weak transcription Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68368400-68382200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:68375600-68377200	Active TSS	Ovary	ovary
3	chr14:68375600-68377800	Weak transcription	Fetal Lung	lung
4	chr14:68375600-68385400	Weak transcription	Fetal Kidney	kidney
5	chr14:68376400-68377000	Enhancers	Fetal Muscle Leg	muscle
6	chr14:68376600-68377000	Weak transcription	Fetal Stomach	stomach
7	chr14:68376800-68377200	Weak transcription	Fetal Muscle Trunk	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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