Variant report

Variant	rs12330347
Chromosome Location	chr3:21726151-21726152
allele	G/T
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:16)

rs_ID	r²[population]
rs73138852	1.00[AFR][1000 genomes]
rs9310651	0.84[AFR][1000 genomes]
rs9310652	0.84[AFR][1000 genomes]
rs9310653	0.84[AFR][1000 genomes]
rs9853494	0.84[AFR][1000 genomes]
rs9854361	0.86[AFR][1000 genomes]
rs9859103	0.84[AFR][1000 genomes]
rs9859423	0.84[AFR][1000 genomes]
rs9863531	0.84[AFR][1000 genomes]
rs9870622	0.84[AFR][1000 genomes]
rs9871442	0.84[AFR][1000 genomes]
rs9876514	0.84[AFR][1000 genomes]
rs9876576	0.94[AFR][1000 genomes]
rs9878770	0.94[AFR][1000 genomes]
rs9882847	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9883454	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534005	chr3:21387588-22003293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1010460	chr3:21516810-21839871	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv834631	chr3:21612283-21763887	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1007048	chr3:21666807-21865229	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv536516	chr3:21666807-21865229	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv527771	chr3:21716235-21726363	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3461577	chr3:21721448-21727746	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3518739	chr3:21722973-21727021	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3461581	chr3:21723261-21726242	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv5738	chr3:21723576-21726215	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv589923	chr3:21724116-21726363	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21715000-21728600	Weak transcription	Psoas Muscle	Psoas
2	chr3:21720400-21727000	Weak transcription	Aorta	Aorta
3	chr3:21721600-21727600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr3:21724000-21736000	Weak transcription	NHDF-Ad	bronchial
5	chr3:21724600-21746400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:21724800-21735800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:21725200-21728400	Weak transcription	Left Ventricle	heart
8	chr3:21725800-21729000	Weak transcription	Fetal Stomach	stomach

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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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