Variant report

Variant	rs12330310
Chromosome Location	chr3:99463064-99463065
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:99460540..99463119-chr3:99475037..99476950,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs13315221	1.00[AFR][1000 genomes]
rs13323384	1.00[AFR][1000 genomes]
rs13327351	0.83[AFR][1000 genomes]
rs13353487	1.00[AFR][1000 genomes]
rs16841800	1.00[AFR][1000 genomes]
rs16841824	1.00[AFR][1000 genomes]
rs16841828	0.83[AFR][1000 genomes]
rs16841836	1.00[AFR][1000 genomes]
rs16846956	0.83[AFR][1000 genomes]
rs28368726	1.00[AFR][1000 genomes]
rs28411225	0.83[AFR][1000 genomes]
rs28463921	1.00[AFR][1000 genomes]
rs28508384	1.00[AFR][1000 genomes]
rs28728176	0.83[AFR][1000 genomes]
rs28816814	1.00[AFR][1000 genomes]
rs9809706	1.00[AFR][1000 genomes]
rs9810553	1.00[AFR][1000 genomes]
rs9816232	1.00[AFR][1000 genomes]
rs9820799	1.00[AFR][1000 genomes]
rs9824229	1.00[AFR][1000 genomes]
rs9825382	1.00[AFR][1000 genomes]
rs9825938	1.00[AFR][1000 genomes]
rs9828782	1.00[AFR][1000 genomes]
rs9830038	0.83[AFR][1000 genomes]
rs9831706	0.83[AFR][1000 genomes]
rs9833005	0.83[AFR][1000 genomes]
rs9835048	1.00[AFR][1000 genomes]
rs9837028	1.00[AFR][1000 genomes]
rs9837204	1.00[AFR][1000 genomes]
rs9837555	1.00[AFR][1000 genomes]
rs9841053	1.00[AFR][1000 genomes]
rs9841758	1.00[AFR][1000 genomes]
rs9843919	1.00[AFR][1000 genomes]
rs9844578	1.00[AFR][1000 genomes]
rs9844595	1.00[AFR][1000 genomes]
rs9849336	1.00[AFR][1000 genomes]
rs9849373	1.00[AFR][1000 genomes]
rs9851406	1.00[AFR][1000 genomes]
rs9851985	0.83[AFR][1000 genomes]
rs9852857	1.00[AFR][1000 genomes]
rs9860986	1.00[AFR][1000 genomes]
rs9862370	1.00[AFR][1000 genomes]
rs9868303	1.00[AFR][1000 genomes]
rs9870153	0.83[AFR][1000 genomes]
rs9871500	1.00[AFR][1000 genomes]
rs9875301	1.00[AFR][1000 genomes]
rs9883235	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877217	chr3:99418950-99496351	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv508231	chr3:99442020-99498951	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99440400-99471000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:99441400-99466800	Weak transcription	NH-A	brain
3	chr3:99443400-99471400	Weak transcription	Aorta	Aorta
4	chr3:99449600-99463400	Weak transcription	HUVEC	blood vessel
5	chr3:99450400-99463600	Weak transcription	NHDF-Ad	bronchial
6	chr3:99450400-99463800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:99458600-99466600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:99458600-99466800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:99458600-99470000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:99458600-99470200	Weak transcription	Lung	lung
11	chr3:99458600-99471000	Weak transcription	NHLF	lung
12	chr3:99458600-99471200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:99458600-99472200	Weak transcription	Adipose Nuclei	Adipose
14	chr3:99460400-99463800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:99460600-99466800	Strong transcription	Osteobl	bone
16	chr3:99460800-99466400	Weak transcription	NHEK	skin
17	chr3:99461400-99468400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:99461600-99466800	Strong transcription	HSMM	muscle
19	chr3:99461800-99466600	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr3:99462400-99495600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:99463000-99463800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:99463000-99466600	Weak transcription	HMEC	breast

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