Variant report

Variant	rs9475754
Chromosome Location	chr6:56792975-56792976
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56792046..56794849-chr6:56818085..56820101,2	K562	blood:
2	chr6:56790222..56793074-chr6:56811865..56815272,3	K562	blood:

Variant related genes	Relation type
ENSG00000151914	Chromatin interaction
ENSG00000151917	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11963379	1.00[AMR][1000 genomes]
rs11965554	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11969595	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28432154	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59524770	1.00[AMR][1000 genomes]
rs60547490	1.00[AMR][1000 genomes]
rs60910643	1.00[AMR][1000 genomes]
rs60962957	1.00[AMR][1000 genomes]
rs9464406	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9464408	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9475742	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9475743	1.00[AMR][1000 genomes]
rs9475745	1.00[AMR][1000 genomes]
rs9475746	1.00[AMR][1000 genomes]
rs9475750	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9475751	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9475755	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1022714	chr6:56729767-56826642	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv538229	chr6:56729767-56826642	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv5315	chr6:56752042-56798761	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56782400-56793000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:56790400-56799800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:56791200-56793800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:56791400-56793200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr6:56791600-56793200	Enhancers	Osteobl	bone
6	chr6:56791600-56793400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr6:56791600-56793400	Enhancers	NHDF-Ad	bronchial
8	chr6:56792200-56793000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:56792200-56793000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:56792400-56793000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr6:56792400-56793000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:56792400-56793000	Enhancers	HSMM	muscle
13	chr6:56792400-56793400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr6:56792400-56793400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:56792400-56793400	Enhancers	HMEC	breast
16	chr6:56792400-56793400	Enhancers	NHEK	skin
17	chr6:56792600-56793000	Enhancers	Primary hematopoietic stem cells	blood
18	chr6:56792600-56793000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:56792600-56793000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:56792600-56793000	Enhancers	NH-A	brain
21	chr6:56792600-56793200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:56792600-56793200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:56792600-56793200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:56792600-56793200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr6:56792600-56793200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:56792600-56793200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:56792600-56793200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:56792600-56793200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:56792600-56793200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:56792600-56793200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:56792600-56793200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:56792600-56793200	Enhancers	GM12878-XiMat	blood
33	chr6:56792600-56793200	Enhancers	NHLF	lung
34	chr6:56792600-56793400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr6:56792600-56793400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr6:56792800-56793000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:56792800-56793200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:56792800-56802400	Weak transcription	A549	lung

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