Variant report

Variant	rs9964718
Chromosome Location	chr18:9825566-9825567
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	chr18:9824373..9826062-chr18:9914642..9916254,2	MCF-7	breast:
2	chr18:9805004..9807310-chr18:9824061..9827031,2	K562	blood:
3	chr18:9825121..9830026-chr18:9912205..9915601,6	K562	blood:
4	chr18:9818694..9820482-chr18:9824195..9825783,2	K562	blood:
5	chr18:9825388..9828051-chr18:9924644..9926364,2	K562	blood:
6	chr18:9823990..9825953-chr18:9922807..9924603,2	K562	blood:
7	chr18:9823749..9827014-chr18:9916286..9918554,3	K562	blood:
8	chr18:9824992..9827514-chr18:9876180..9877735,2	K562	blood:
9	chr12:4787798..4788507-chr18:9825134..9825912,2	Hela-S3	cervix:
10	chr18:9820751..9822871-chr18:9824250..9826573,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272799	Chromatin interaction
ENSG00000223138	Chromatin interaction
ENSG00000101558	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12455645	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12956986	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299841	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4798868	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4798869	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8083505	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][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	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
2	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
3	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
4	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
5	nsv909366	chr18:9760942-9827368	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv833586	chr18:9783830-9971693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9807800-9832000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr18:9812400-9834600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr18:9812400-9834800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr18:9818800-9828000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr18:9822800-9826200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr18:9823000-9825800	Enhancers	Fetal Muscle Leg	muscle
7	chr18:9823000-9826200	Enhancers	Aorta	Aorta
8	chr18:9823000-9830600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr18:9823400-9826200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr18:9823800-9825800	Enhancers	Brain Hippocampus Middle	brain
11	chr18:9823800-9825800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr18:9823800-9826000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr18:9823800-9826000	Enhancers	Brain Anterior Caudate	brain
14	chr18:9823800-9826000	Enhancers	Brain Cingulate Gyrus	brain
15	chr18:9823800-9826000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr18:9823800-9826000	Enhancers	HSMM	muscle
17	chr18:9823800-9826200	Enhancers	Brain Substantia Nigra	brain
18	chr18:9823800-9826200	Enhancers	NHLF	lung
19	chr18:9823800-9826400	Enhancers	NH-A	brain
20	chr18:9823800-9826800	Enhancers	Primary hematopoietic stem cells	blood
21	chr18:9823800-9827400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr18:9823800-9827800	Enhancers	NHEK	skin
23	chr18:9823800-9828400	Enhancers	Rectal Smooth Muscle	rectum
24	chr18:9823800-9829200	Enhancers	Placenta	Placenta
25	chr18:9823800-9829400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr18:9823800-9829600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr18:9824000-9826000	Enhancers	Ovary	ovary
28	chr18:9824000-9826200	Enhancers	HSMMtube	muscle
29	chr18:9824000-9826200	Enhancers	NHDF-Ad	bronchial
30	chr18:9824200-9825800	Enhancers	Brain Angular Gyrus	brain
31	chr18:9824200-9825800	Enhancers	Right Ventricle	heart
32	chr18:9824200-9826000	Enhancers	Adipose Nuclei	Adipose
33	chr18:9824200-9826000	Enhancers	Duodenum Mucosa	Duodenum
34	chr18:9824200-9826000	Enhancers	Right Atrium	heart
35	chr18:9824200-9826200	Enhancers	HepG2	liver
36	chr18:9824200-9826400	Enhancers	Fetal Intestine Large	intestine
37	chr18:9824400-9825800	Enhancers	Primary B cells from peripheral blood	blood
38	chr18:9824400-9825800	Enhancers	Placenta Amnion	Placenta Amnion
39	chr18:9824400-9826000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr18:9824400-9826000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr18:9824400-9826000	Enhancers	Esophagus	oesophagus
42	chr18:9824400-9826200	Enhancers	Colonic Mucosa	Colon
43	chr18:9824400-9827600	Enhancers	HMEC	breast
44	chr18:9824400-9827800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr18:9824400-9828400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr18:9824400-9828400	Enhancers	Spleen	Spleen
47	chr18:9824400-9829000	Enhancers	Fetal Intestine Small	intestine
48	chr18:9824400-9829200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr18:9824600-9825800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr18:9824600-9826200	Enhancers	Osteobl	bone

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