Variant report

Variant	rs12330360
Chromosome Location	chr3:46163715-46163716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46162316..46164554-chr3:46164815..46166918,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12629747	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12636866	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1392288	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1463680	1.00[CHB][hapmap]
rs1873001	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2129879	1.00[JPT][hapmap]
rs2133660	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2171528	1.00[JPT][hapmap]
rs2171529	1.00[JPT][hapmap]
rs2276856	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs3947589	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs4683165	0.92[EUR][1000 genomes]
rs4683179	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7372175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73830757	0.91[ASN][1000 genomes]
rs751667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7612402	1.00[JPT][hapmap]
rs9812655	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9817701	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9838739	0.85[ASN][1000 genomes]
rs9872121	0.85[ASN][1000 genomes]
rs9875616	1.00[CHB][hapmap]

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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46146800-46164400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:46152600-46165200	Weak transcription	Spleen	Spleen
3	chr3:46156800-46168000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:46157200-46166600	Weak transcription	Psoas Muscle	Psoas
5	chr3:46157200-46168600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:46159600-46165000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:46159600-46165000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:46159600-46165000	Weak transcription	Adipose Nuclei	Adipose
9	chr3:46159800-46164400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:46159800-46165000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr3:46160200-46165000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr3:46161400-46169400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:46161800-46165000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr3:46162400-46164400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:46162800-46164000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr3:46162800-46165200	Enhancers	Fetal Lung	lung
17	chr3:46162800-46165400	Weak transcription	NHDF-Ad	bronchial
18	chr3:46162800-46168800	Weak transcription	HMEC	breast
19	chr3:46163200-46164000	Enhancers	Fetal Heart	heart
20	chr3:46163200-46165200	Weak transcription	Hela-S3	cervix
21	chr3:46163200-46166600	Enhancers	NHLF	lung
22	chr3:46163200-46166800	Enhancers	Fetal Stomach	stomach
23	chr3:46163600-46164400	Weak transcription	Placenta	Placenta
24	chr3:46163600-46165200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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