Variant report

Variant	rs321324
Chromosome Location	chr6:45677664-45677665
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:45386524..45392794-chr6:45676366..45680002,8	MCF-7	breast:
2	chr6:45388351..45392469-chr6:45677058..45681345,6	MCF-7	breast:
3	chr6:45575303..45577184-chr6:45677286..45680162,2	MCF-7	breast:
4	chr6:45626348..45629264-chr6:45676046..45679012,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271857	Chromatin interaction
ENSG00000124813	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12661654	0.95[CEU][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12663985	0.94[CEU][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12665728	0.90[EUR][1000 genomes]
rs1388242	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1388244	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1491139	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1491144	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1491145	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1932040	0.82[CHB][hapmap]
rs1994682	0.95[CEU][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2035791	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2396505	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2637578	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2637580	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2782658	0.86[CHB][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2782659	0.86[CHB][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2782660	0.83[CEU][hapmap];0.90[CHB][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2782663	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2782666	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs321321	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs321322	0.86[CHB][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs321325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4326224	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4714864	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6458457	0.91[EUR][1000 genomes]
rs6458458	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6919919	0.86[ASN][1000 genomes]
rs7761790	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7762915	0.95[CEU][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes]
rs7774097	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9349324	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9357489	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9357490	0.81[ASN][1000 genomes]
rs9369572	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9395110	0.88[ASN][1000 genomes]
rs9395111	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9472541	0.95[CEU][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap];0.89[EUR][1000 genomes]
rs9472547	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9472552	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9472555	0.87[ASN][1000 genomes]
rs9472557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr6:45668000-45678000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:45671000-45678000	Weak transcription	NHLF	lung
3	chr6:45671200-45678000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:45672400-45678000	Weak transcription	NHDF-Ad	bronchial
5	chr6:45672600-45677800	Weak transcription	Osteobl	bone
6	chr6:45672600-45678000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:45674400-45678200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:45675400-45677800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:45675600-45678000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr6:45675600-45678000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:45675800-45678000	Enhancers	Hela-S3	cervix
12	chr6:45676200-45677800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:45676600-45677800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr6:45676800-45678000	Weak transcription	NH-A	brain
15	chr6:45676800-45679000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr6:45677000-45679000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr6:45677400-45682200	Weak transcription	HMEC	breast
18	chr6:45677600-45677800	Flanking Active TSS	Fetal Heart	heart
19	chr6:45677600-45678400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:45677600-45678800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:45677600-45678800	Enhancers	Primary B cells from peripheral blood	blood
22	chr6:45677600-45678800	Flanking Active TSS	GM12878-XiMat	blood

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