Variant report

Variant	rs8083505
Chromosome Location	chr18:9823666-9823667
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9816447..9818510-chr18:9822454..9825221,3	K562	blood:
2	chr18:9816186..9818041-chr18:9822656..9824440,2	MCF-7	breast:
3	chr18:9821636..9823765-chr18:9912687..9914787,2	MCF-7	breast:
4	chr18:9812195..9813835-chr18:9821275..9823784,2	K562	blood:

Variant related genes	Relation type
ENSG00000101558	Chromatin interaction
ENSG00000272799	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	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12956986	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299841	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4798868	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4798869	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9964718	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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9807600-9824400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr18:9807800-9832000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr18:9809000-9825000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:9809200-9824400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr18:9809200-9824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:9809200-9824800	Weak transcription	Lung	lung
7	chr18:9809200-9825000	Weak transcription	Stomach Mucosa	stomach
8	chr18:9809400-9824400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr18:9809600-9824400	Weak transcription	HMEC	breast
10	chr18:9810200-9824000	Weak transcription	Ovary	ovary
11	chr18:9810600-9823800	Weak transcription	Fetal Stomach	stomach
12	chr18:9810800-9823800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr18:9810800-9823800	Weak transcription	Brain Hippocampus Middle	brain
14	chr18:9810800-9823800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr18:9811000-9823800	Weak transcription	Colon Smooth Muscle	Colon
16	chr18:9811400-9823800	Weak transcription	Brain Substantia Nigra	brain
17	chr18:9812400-9834600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr18:9812400-9834800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr18:9814800-9823800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr18:9815000-9823800	Weak transcription	A549	lung
21	chr18:9815200-9824000	Weak transcription	HSMMtube	muscle
22	chr18:9815200-9824400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr18:9815200-9824400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr18:9815400-9823800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr18:9816800-9823800	Weak transcription	NH-A	brain
26	chr18:9816800-9824200	Weak transcription	Adipose Nuclei	Adipose
27	chr18:9817000-9823800	Weak transcription	Placenta	Placenta
28	chr18:9817600-9823800	Weak transcription	Osteobl	bone
29	chr18:9818000-9823800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr18:9818000-9823800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr18:9818000-9824200	Weak transcription	Right Ventricle	heart
32	chr18:9818000-9824800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr18:9818200-9823800	Weak transcription	NHEK	skin
34	chr18:9818200-9824000	Weak transcription	Fetal Lung	lung
35	chr18:9818200-9824400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr18:9818400-9825000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr18:9818600-9823800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr18:9818600-9823800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr18:9818800-9823800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr18:9818800-9823800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr18:9818800-9823800	Weak transcription	HSMM	muscle
42	chr18:9818800-9828000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr18:9819000-9825000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr18:9819200-9824000	Weak transcription	NHDF-Ad	bronchial
45	chr18:9819800-9824400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr18:9820200-9825400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr18:9821200-9824800	Weak transcription	HUVEC	blood vessel
48	chr18:9822600-9824200	Enhancers	K562	blood
49	chr18:9822600-9825000	Genic enhancers	Hela-S3	cervix
50	chr18:9822800-9824800	Enhancers	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links