Variant report

Variant	rs7304381
Chromosome Location	chr12:67042986-67042987
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11833708	1.00[AMR][1000 genomes]
rs17102792	1.00[EUR][1000 genomes]
rs17102794	1.00[EUR][1000 genomes]
rs17102796	1.00[EUR][1000 genomes]
rs17827030	1.00[EUR][1000 genomes]
rs73327003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73327007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73327021	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832449	chr12:66885819-67069953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67040800-67044000	Enhancers	Fetal Brain Male	brain
2	chr12:67041200-67045000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:67041800-67043600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr12:67042000-67043200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:67042000-67047200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:67042200-67043800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:67042400-67043000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:67042400-67043400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:67042600-67043200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:67042600-67048200	Weak transcription	Stomach Mucosa	stomach
11	chr12:67042600-67055800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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