Variant report

Variant	rs12629747
Chromosome Location	chr3:46166383-46166384
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46165088..46167964-chr3:46179525..46182500,2	MCF-7	breast:
2	chr3:46162316..46164554-chr3:46164815..46166918,2	K562	blood:
3	chr3:46165710..46167302-chr3:46203883..46205469,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183625	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12330360	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12636866	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4683165	1.00[EUR][1000 genomes]
rs4683179	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7372175	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73830757	0.91[ASN][1000 genomes]
rs9812655	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9817701	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9838739	0.85[ASN][1000 genomes]
rs9872121	0.85[ASN][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	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46156800-46168000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:46157200-46166600	Weak transcription	Psoas Muscle	Psoas
3	chr3:46157200-46168600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:46161400-46169400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:46162800-46168800	Weak transcription	HMEC	breast
6	chr3:46163200-46166600	Enhancers	NHLF	lung
7	chr3:46163200-46166800	Enhancers	Fetal Stomach	stomach
8	chr3:46164000-46171000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr3:46164400-46166400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:46164400-46166800	Enhancers	Placenta	Placenta
11	chr3:46164800-46167000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:46165000-46166800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr3:46165000-46167000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr3:46165000-46167000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr3:46165000-46167000	Enhancers	Adipose Nuclei	Adipose
16	chr3:46165200-46166600	Enhancers	Ovary	ovary
17	chr3:46165200-46166800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr3:46165400-46166400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:46165400-46166400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:46165400-46166600	Enhancers	NHDF-Ad	bronchial
21	chr3:46165400-46170800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr3:46165600-46166800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:46165800-46167000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:46165800-46167000	Enhancers	Fetal Lung	lung
25	chr3:46165800-46168600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:46165800-46169000	Weak transcription	Dnd41	blood
27	chr3:46166000-46166400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr3:46166000-46166400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr3:46166000-46170800	Weak transcription	Spleen	Spleen
30	chr3:46166200-46168600	Weak transcription	Hela-S3	cervix
31	chr3:46166200-46171200	Weak transcription	Primary B cells from cord blood	blood

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