Variant report

Variant	rs3217989
Chromosome Location	chr9:22003790-22003791
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:21994658..21996988-chr9:22001794..22004209,3	MCF-7	breast:
2	chr9:22003176..22005515-chr9:22097864..22100097,2	MCF-7	breast:
3	chr9:22003592..22005818-chr9:22239083..22240944,2	MCF-7	breast:
4	chr9:22001061..22004369-chr9:22238079..22242030,5	MCF-7	breast:
5	chr9:22001905..22005443-chr9:22006837..22010550,5	MCF-7	breast:
6	chr9:22003045..22005596-chr9:22081928..22084835,3	MCF-7	breast:
7	chr9:21813108..21815129-chr9:22001503..22004148,2	MCF-7	breast:
8	chr21:41757151..41759568-chr9:22002838..22004558,2	MCF-7	breast:
9	chr9:22003003..22006002-chr9:22110995..22113643,2	MCF-7	breast:
10	chr9:22002808..22004535-chr9:22101357..22102863,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000266446	Chromatin interaction
ENSG00000147883	Chromatin interaction
ENSG00000147889	Chromatin interaction
ENSG00000240498	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1412831	0.80[AMR][1000 genomes]
rs1591137	0.80[AMR][1000 genomes]
rs3217979	0.90[AMR][1000 genomes]
rs3731213	1.00[MEX][hapmap]
rs57222759	0.90[AMR][1000 genomes]
rs58814679	0.80[AMR][1000 genomes]
rs6475603	0.80[AMR][1000 genomes]
rs7048912	0.80[AMR][1000 genomes]
rs73446312	0.80[AMR][1000 genomes]
rs73446314	0.80[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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21995800-22008400	Weak transcription	Aorta	Aorta
2	chr9:21996200-22004000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:21996200-22004000	Weak transcription	Adipose Nuclei	Adipose
4	chr9:21996200-22005200	Weak transcription	Lung	lung
5	chr9:21996200-22005600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr9:21996400-22004200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:21996400-22004400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr9:21996400-22005000	Weak transcription	NHEK	skin
9	chr9:21996400-22005200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:21996400-22005200	Weak transcription	NHDF-Ad	bronchial
11	chr9:21996400-22005200	Weak transcription	Osteobl	bone
12	chr9:21996400-22007800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:21996600-22003800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:21996800-22005000	Weak transcription	NHLF	lung
15	chr9:21996800-22005200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:21997000-22003800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr9:21997200-22005200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr9:21998600-22004200	Weak transcription	HMEC	breast
19	chr9:21998600-22004400	Weak transcription	HSMMtube	muscle
20	chr9:21998600-22004600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr9:21999600-22004400	Enhancers	Hela-S3	cervix
22	chr9:22001800-22005000	Weak transcription	Esophagus	oesophagus
23	chr9:22002800-22005000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr9:22003000-22004000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:22003000-22005800	Strong transcription	HSMM	muscle
26	chr9:22003400-22004400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:22003600-22003800	Genic enhancers	NH-A	brain
28	chr9:22003600-22004600	Flanking Active TSS	Dnd41	blood

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