Variant report

Variant	rs8092013
Chromosome Location	chr18:9796657-9796658
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr18:9796368-9796663	K562	blood:	n/a	chr18:9796544-9796556 chr18:9796544-9796556 chr18:9796545-9796555 chr18:9796543-9796554 chr18:9796545-9796559 chr18:9796541-9796555 chr18:9796539-9796556 chr18:9796544-9796555

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9795295..9797183-chr18:9918456..9920442,2	MCF-7	breast:
2	chr18:9791062..9793462-chr18:9796256..9799208,2	K562	blood:

Variant related genes	Relation type
RAB31	TF binding region
ENSG00000168461	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12454158	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs12455453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2267565	0.81[CHB][hapmap];0.88[JPT][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2267566	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2267568	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2867813	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs73940033	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73940034	0.82[AMR][1000 genomes];0.96[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	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9771800-9803800	Weak transcription	Fetal Stomach	stomach
2	chr18:9771800-9807800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr18:9772000-9797400	Weak transcription	Colon Smooth Muscle	Colon
4	chr18:9772200-9797000	Weak transcription	Fetal Muscle Leg	muscle
5	chr18:9773200-9797200	Weak transcription	Brain Anterior Caudate	brain
6	chr18:9773600-9807000	Weak transcription	Lung	lung
7	chr18:9775400-9797000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr18:9775600-9806400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr18:9780200-9807000	Weak transcription	Pancreas	Pancrea
10	chr18:9782400-9802600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr18:9782400-9802600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr18:9782400-9803400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr18:9783200-9802600	Weak transcription	NHLF	lung
14	chr18:9783200-9804000	Weak transcription	NHEK	skin
15	chr18:9783400-9797400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr18:9783400-9802600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr18:9783400-9808600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr18:9785400-9800000	Weak transcription	Spleen	Spleen
19	chr18:9785800-9802400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr18:9787800-9797000	Weak transcription	HSMM	muscle
21	chr18:9787800-9797200	Weak transcription	NHDF-Ad	bronchial
22	chr18:9787800-9797400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr18:9788000-9797000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr18:9788000-9802800	Weak transcription	NH-A	brain
25	chr18:9788200-9797200	Weak transcription	HSMMtube	muscle
26	chr18:9788800-9797200	Weak transcription	Fetal Lung	lung
27	chr18:9790600-9797000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr18:9790600-9797400	Weak transcription	Ovary	ovary
29	chr18:9790800-9797000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr18:9791200-9797000	Weak transcription	A549	lung
31	chr18:9791200-9798000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr18:9791600-9802600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr18:9792200-9798600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr18:9792600-9802600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr18:9792800-9802400	Weak transcription	Aorta	Aorta
36	chr18:9792800-9807000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr18:9793200-9797000	Weak transcription	K562	blood
38	chr18:9793200-9802400	Weak transcription	Placenta	Placenta
39	chr18:9793200-9803800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr18:9794000-9798000	Weak transcription	Adipose Nuclei	Adipose
41	chr18:9794000-9802600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr18:9794200-9802400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr18:9794200-9803600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr18:9794600-9797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr18:9794600-9797000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr18:9794600-9802200	Weak transcription	Osteobl	bone
47	chr18:9795200-9797800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr18:9795800-9798000	Weak transcription	Hela-S3	cervix
49	chr18:9795800-9802400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr18:9796000-9797000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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