Variant report

Variant	rs28440160
Chromosome Location	chr9:116064724-116064725
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116063629..116065379-chr9:116074653..116076801,2	K562	blood:
2	chr9:116063977..116066911-chr9:116102342..116104616,4	MCF-7	breast:
3	chr9:116037849..116040056-chr9:116062437..116065582,3	MCF-7	breast:
4	chr9:116036612..116039217-chr9:116063138..116067985,4	MCF-7	breast:
5	chr9:116063473..116067468-chr9:116171615..116174364,4	MCF-7	breast:
6	chr9:116063542..116066515-chr9:116162468..116165263,2	K562	blood:
7	chr9:116063284..116065510-chr9:116102338..116105750,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176386	Chromatin interaction
ENSG00000148229	Chromatin interaction
ENSG00000157653	Chromatin interaction
ENSG00000136875	Chromatin interaction
ENSG00000148225	Chromatin interaction
ENSG00000148218	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10124515	0.85[ASN][1000 genomes]
rs10759639	0.85[ASN][1000 genomes]
rs10981718	0.80[ASN][1000 genomes]
rs10981719	0.80[ASN][1000 genomes]
rs2296073	0.80[ASN][1000 genomes]
rs59841233	0.85[ASN][1000 genomes]
rs6478001	0.92[ASN][1000 genomes]
rs7027833	0.82[ASN][1000 genomes]
rs7860625	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 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	chr9:116054200-116065000	Weak transcription	Fetal Kidney	kidney
2	chr9:116054600-116065200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr9:116054800-116065200	Weak transcription	Esophagus	oesophagus
4	chr9:116055200-116085200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr9:116056000-116087000	Weak transcription	Thymus	Thymus
6	chr9:116056600-116065400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr9:116056800-116065000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:116056800-116065200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:116061000-116064800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr9:116061400-116065200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr9:116062400-116065200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr9:116062600-116075600	Weak transcription	Placenta	Placenta
13	chr9:116063000-116065000	Weak transcription	Colonic Mucosa	Colon
14	chr9:116063000-116065000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr9:116063200-116065200	Weak transcription	Gastric	stomach
16	chr9:116063800-116064800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr9:116064400-116065200	Enhancers	Fetal Intestine Small	intestine
18	chr9:116064600-116065000	Enhancers	Fetal Intestine Large	intestine
19	chr9:116064600-116065000	Enhancers	HepG2	liver
20	chr9:116064600-116065200	Enhancers	Duodenum Mucosa	Duodenum
21	chr9:116064600-116066000	Enhancers	Stomach Mucosa	stomach
22	chr9:116064600-116066000	Enhancers	K562	blood

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