Variant report

Variant	rs56235436
Chromosome Location	chr9:21992852-21992853
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr9:21992769-21992960	IMR90	lung:	n/a	chr9:21992809-21992824
2	MAFK	chr9:21992724-21992922	HepG2	liver:	n/a	chr9:21992809-21992824
3	MAFK	chr9:21992659-21992974	HepG2	liver:	n/a	chr9:21992809-21992824
4	MAFF	chr9:21992772-21992914	HepG2	liver:	n/a	chr9:21992807-21992825

No.	Distal block	Cell Line	Cell type
1	chr9:21811532..21820564-chr9:21988281..21997291,17	MCF-7	breast:
2	chr9:21811237..21820561-chr9:21988636..21997115,18	MCF-7	breast:
3	chr9:21992827..21995558-chr9:22007456..22010608,5	MCF-7	breast:
4	chr9:21991860..21994281-chr9:22027750..22030080,2	MCF-7	breast:

Variant related genes	Relation type
CDKN2B-AS1	TF binding region
ENSG00000266446	TF binding region
ENSG00000147883	Chromatin interaction
ENSG00000229298	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs16935753	0.83[AMR][1000 genomes]
rs2069420	0.83[AMR][1000 genomes]
rs2151279	0.83[AMR][1000 genomes]
rs3217980	0.83[AMR][1000 genomes]
rs3217994	0.83[AMR][1000 genomes]
rs3217997	0.83[AMR][1000 genomes]
rs3217999	0.83[AMR][1000 genomes]
rs3218003	0.83[AMR][1000 genomes]
rs3218021	0.83[AMR][1000 genomes]
rs3218022	0.83[AMR][1000 genomes]
rs3218023	0.83[AMR][1000 genomes]
rs3731191	1.00[EUR][1000 genomes]
rs3731194	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3731218	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60693449	0.83[AMR][1000 genomes]
rs61564778	0.83[AMR][1000 genomes]
rs73650003	0.83[AMR][1000 genomes]
rs73652816	0.83[AMR][1000 genomes]
rs73652817	0.83[AMR][1000 genomes]
rs73652818	0.83[AMR][1000 genomes]
rs73652821	0.83[AMR][1000 genomes]
rs73652824	0.83[AMR][1000 genomes]
rs73652825	0.83[AMR][1000 genomes]
rs73652839	0.83[AMR][1000 genomes]
rs73652842	0.83[AMR][1000 genomes]
rs73652845	0.83[AMR][1000 genomes]
rs73652846	0.83[AMR][1000 genomes]
rs73652847	0.83[AMR][1000 genomes]
rs73652848	0.83[AMR][1000 genomes]
rs73652849	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv8426	chr9:21763810-22176200	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv892745	chr9:21857244-22006273	Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv1821117	chr9:21933029-22012229	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1018514	chr9:21944275-22075326	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv892746	chr9:21953137-22028801	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv3492902	chr9:21971026-22006145	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv3492901	chr9:21971095-22006263	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv892747	chr9:21984661-22068646	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21988000-21993000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr9:21990000-21993200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr9:21990400-21993400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr9:21990400-21993400	Weak transcription	Spleen	Spleen
5	chr9:21990400-21994000	Weak transcription	Gastric	stomach
6	chr9:21990600-21993200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:21990800-21993000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:21990800-21993400	Weak transcription	HSMM	muscle
9	chr9:21991200-21993400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:21991400-21993200	Weak transcription	NHDF-Ad	bronchial
11	chr9:21991600-21993000	Weak transcription	NHLF	lung
12	chr9:21991600-21993400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:21991600-21995800	Active TSS	HMEC	breast
14	chr9:21991800-21993200	Weak transcription	Osteobl	bone
15	chr9:21991800-21993400	Active TSS	NH-A	brain
16	chr9:21991800-21993600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr9:21992000-21993400	Active TSS	GM12878-XiMat	blood
18	chr9:21992000-21996400	Active TSS	Dnd41	blood
19	chr9:21992400-21993400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr9:21992600-21993000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:21992600-21993000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:21992600-21993000	Enhancers	NHEK	skin
23	chr9:21992800-21993200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
24	chr9:21992800-21993200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr9:21992800-21993200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:21992800-21993400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
27	chr9:21992800-21994200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:21992800-21994200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr9:21992800-21996000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr9:21992800-21996200	Active TSS	Hela-S3	cervix

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