Variant report

Variant	rs3212243
Chromosome Location	chr14:24810370-24810371
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:24809738..24812373-chr14:24821553..24823093,2	MCF-7	breast:
2	chr14:24806340..24809398-chr14:24810328..24812988,3	MCF-7	breast:
3	chr14:24768283..24771076-chr14:24807728..24810560,2	MCF-7	breast:
4	chr14:24789439..24822082-chr14:24898039..24913135,99	MCF-7	breast:
5	chr14:24809841..24814133-chr14:24900511..24905068,5	K562	blood:
6	chr14:24809608..24813425-chr14:24826773..24829477,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196943	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000129465	Chromatin interaction
ENSG00000258973	Chromatin interaction
ENSG00000100445	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 9 )

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

rs_ID	r²[population]
rs10148620	0.94[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap]
rs10459527	0.90[EUR][1000 genomes]
rs1109152	0.82[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1109153	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs11621904	0.94[CHB][hapmap];0.88[JPT][hapmap]
rs12050389	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12433338	0.84[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];1.00[MKK][hapmap];0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12436194	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12436417	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs12881276	0.85[ASN][1000 genomes]
rs17184689	0.97[TSI][hapmap];0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2295300	1.00[ASW][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2332325	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs28457795	0.83[ASN][1000 genomes]
rs28637873	0.83[ASN][1000 genomes]
rs2877642	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3181251	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3212242	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3212260	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8008406	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8014112	0.94[CHB][hapmap];0.88[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs882726	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs3212243	OR11H6	cis	parietal	SCAN
rs3212243	OR9G4	trans	parietal	SCAN
rs3212243	LTB4R	cis	Thyroid	GTEx
rs3212243	CMA1	cis	cerebellum	SCAN
rs3212243	NFATC4	cis	cerebellum	SCAN
rs3212243	NGDN	cis	parietal	SCAN
rs3212243	ADCY4	cis	cerebellum	SCAN
rs3212243	DHRS1	cis	cerebellum	SCAN
rs3212243	NYNRIN	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24809400-24813000	Weak transcription	Liver	Liver
2	chr14:24809400-24816200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:24809600-24810600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr14:24809600-24812400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:24809600-24821000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:24809800-24810600	Weak transcription	Primary B cells from cord blood	blood
7	chr14:24809800-24812600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:24809800-24812600	Weak transcription	Fetal Intestine Large	intestine
9	chr14:24810000-24810400	Weak transcription	Monocytes-CD14+_RO01746	blood

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