Variant report

Variant	rs1590630
Chromosome Location	chr9:22308521-22308522
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:22304349..22312901-chr9:22445807..22450010,8	MCF-7	breast:
2	chr9:22307897..22308732-chr9:22452148..22452666,2	MCF-7	breast:
3	chr9:22307986..22308923-chr9:22452329..22453109,4	MCF-7	breast:
4	chr9:22307465..22309728-chr9:22452088..22453632,2	MCF-7	breast:
5	chr9:22306827..22310681-chr9:22446065..22451180,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176399	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10738621	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10757302	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10757303	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10757304	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10757305	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10757306	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10811687	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10811688	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10811689	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1327046	0.80[CEU][hapmap]
rs1327050	0.98[EUR][1000 genomes]
rs1327053	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1327054	0.98[EUR][1000 genomes]
rs1359739	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1359740	0.98[EUR][1000 genomes]
rs1409774	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1575977	0.98[EUR][1000 genomes]
rs1575978	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1575979	0.98[EUR][1000 genomes]
rs1590629	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1590631	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1679018	1.00[CEU][hapmap]
rs1679020	1.00[CEU][hapmap]
rs1751450	1.00[CHB][hapmap]
rs2383213	1.00[JPT][hapmap]
rs2383216	0.98[EUR][1000 genomes]
rs4246844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4246845	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4256664	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4292787	0.98[EUR][1000 genomes]
rs4977580	0.98[EUR][1000 genomes]
rs6475627	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7037085	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7846733	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7847069	0.93[EUR][1000 genomes]
rs7853527	1.00[JPT][hapmap]
rs7871143	0.96[EUR][1000 genomes]
rs9298834	0.98[EUR][1000 genomes]
rs9298835	0.93[EUR][1000 genomes]
rs9406784	0.93[EUR][1000 genomes]
rs9406785	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9407973	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9407974	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv531617	chr9:21985057-22809676	Genic enhancers Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1029289	chr9:22193167-23023688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1016067	chr9:22210874-22432654	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1015364	chr9:22211364-22416886	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv540086	chr9:22211364-22416886	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1023972	chr9:22246764-22426267	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv540087	chr9:22246764-22426267	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22302000-22312400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:22307000-22309200	Enhancers	Liver	Liver
3	chr9:22307800-22308800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:22308200-22308800	Weak transcription	A549	lung

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