Variant report

Variant	rs56280817
Chromosome Location	chr18:9685914-9685915
allele	C/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9684225..9686490-chr18:9771447..9773237,2	K562	blood:
2	chr18:9684711..9687111-chr18:9707682..9710394,2	MCF-7	breast:
3	chr18:9684743..9687685-chr18:9730508..9732228,2	K562	blood:
4	chr18:9682935..9686268-chr18:9874817..9878782,4	K562	blood:
5	chr18:9680525..9686114-chr18:9707690..9711025,4	MCF-7	breast:
6	chr18:9684157..9686085-chr18:9706260..9708212,2	K562	blood:
7	chr18:9613899..9615643-chr18:9685662..9687979,2	MCF-7	breast:
8	chr18:9683610..9686483-chr18:9914040..9915695,2	MCF-7	breast:
9	chr18:9680241..9682943-chr18:9684125..9686562,3	K562	blood:
10	chr18:9682384..9686964-chr18:9702727..9705542,5	K562	blood:
11	chr18:9674934..9676991-chr18:9682664..9686574,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000168461	Chromatin interaction
ENSG00000101558	Chromatin interaction
ENSG00000154845	Chromatin interaction
ENSG00000263627	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11874157	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2156014	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55845545	0.99[ASN][1000 genomes]
rs56012533	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56371042	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61376711	0.99[ASN][1000 genomes]
rs61389529	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62078889	0.94[EUR][1000 genomes]
rs62078890	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7241361	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241364	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7245113	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955974	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72955994	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8091319	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8095340	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9953380	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv576449	chr18:9623052-9700382	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9683400-9686000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr18:9683600-9686000	Enhancers	Fetal Muscle Leg	muscle
3	chr18:9683600-9686000	Enhancers	Placenta	Placenta
4	chr18:9683600-9686400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr18:9683800-9686000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr18:9683800-9686000	Enhancers	Primary hematopoietic stem cells	blood
7	chr18:9684000-9686000	Enhancers	Fetal Thymus	thymus
8	chr18:9684000-9688000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr18:9684200-9687600	Weak transcription	NHEK	skin
10	chr18:9684200-9688000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr18:9684200-9688000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr18:9684200-9688200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr18:9684200-9688200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr18:9684200-9688200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr18:9685200-9686600	Enhancers	Ovary	ovary
16	chr18:9685200-9695200	Weak transcription	Spleen	Spleen
17	chr18:9685400-9686600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr18:9685400-9688200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr18:9685600-9686000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr18:9685600-9686000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr18:9685600-9686000	Enhancers	Dnd41	blood
22	chr18:9685600-9686000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr18:9685600-9686400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr18:9685600-9686600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr18:9685600-9687800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr18:9685600-9688000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr18:9685600-9688000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr18:9685600-9688000	Weak transcription	Esophagus	oesophagus
29	chr18:9685600-9688200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr18:9685600-9688200	Weak transcription	HMEC	breast
31	chr18:9685600-9688200	Weak transcription	NH-A	brain
32	chr18:9685600-9695800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr18:9685600-9696800	Weak transcription	Right Atrium	heart
34	chr18:9685800-9686000	Enhancers	K562	blood
35	chr18:9685800-9688000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr18:9685800-9688200	Weak transcription	Osteobl	bone
37	chr18:9685800-9690600	Weak transcription	NHLF	lung
38	chr18:9685800-9690800	Weak transcription	Fetal Lung	lung
39	chr18:9685800-9695200	Weak transcription	Fetal Muscle Trunk	muscle

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