Variant report

Variant	rs73953971
Chromosome Location	chr18:43644648-43644649
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43641479..43644976-chr18:43650874..43653510,3	K562	blood:

Variant related genes	Relation type
ENSG00000152229	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs28579817	1.00[AMR][1000 genomes]
rs56037201	1.00[AMR][1000 genomes]
rs56197126	1.00[AMR][1000 genomes]
rs56778039	1.00[AMR][1000 genomes]
rs58939953	1.00[AMR][1000 genomes]
rs60643131	1.00[AMR][1000 genomes]
rs61196671	1.00[AMR][1000 genomes]
rs73953967	1.00[AMR][1000 genomes]
rs73953977	1.00[AMR][1000 genomes]
rs73953979	1.00[AMR][1000 genomes]
rs73956229	1.00[AMR][1000 genomes]
rs73956236	1.00[AMR][1000 genomes]
rs73956253	1.00[AMR][1000 genomes]
rs73956266	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064882	chr18:43558343-43687674	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543693	chr18:43558343-43687674	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43608600-43651000	Weak transcription	Esophagus	oesophagus
2	chr18:43632400-43651200	Weak transcription	Pancreas	Pancrea
3	chr18:43633200-43651200	Weak transcription	HSMMtube	muscle
4	chr18:43633400-43650200	Weak transcription	NHLF	lung
5	chr18:43633800-43647600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr18:43636400-43647000	Weak transcription	Liver	Liver
7	chr18:43636400-43649200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr18:43636400-43650200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr18:43636600-43649600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr18:43637000-43650000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr18:43640800-43650400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr18:43641000-43648800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr18:43641000-43650000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr18:43641000-43650800	Weak transcription	Fetal Intestine Small	intestine
15	chr18:43641400-43644800	Enhancers	HMEC	breast
16	chr18:43641400-43648800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr18:43641600-43649000	Weak transcription	Left Ventricle	heart
18	chr18:43641800-43645000	Enhancers	NHEK	skin
19	chr18:43642000-43644800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr18:43642000-43645000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr18:43642200-43644800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr18:43642200-43646200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr18:43642200-43646200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr18:43642200-43651000	Weak transcription	Gastric	stomach
25	chr18:43642400-43651200	Weak transcription	Lung	lung
26	chr18:43643200-43644800	Enhancers	K562	blood
27	chr18:43643200-43646400	Weak transcription	Spleen	Spleen
28	chr18:43643400-43645000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr18:43644000-43644800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr18:43644000-43644800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr18:43644000-43645200	Enhancers	Osteobl	bone
32	chr18:43644200-43646400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr18:43644200-43647600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr18:43644200-43648800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr18:43644200-43649400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr18:43644400-43644800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr18:43644400-43645000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr18:43644400-43645000	Enhancers	Placenta	Placenta
39	chr18:43644400-43647600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr18:43644600-43647600	Weak transcription	GM12878-XiMat	blood

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