Variant report

Variant	rs9957650
Chromosome Location	chr18:43622189-43622190
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43621134..43623311-chr18:43651870..43653953,2	K562	blood:
2	chr18:43620677..43623447-chr18:43630437..43631951,2	K562	blood:

Variant related genes	Relation type
ENSG00000152229	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2289264	1.00[ASN][1000 genomes]
rs28391547	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28432272	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28457629	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28528989	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28576132	0.96[AFR][1000 genomes]
rs28642893	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6507684	1.00[EUR][1000 genomes]
rs72903445	1.00[ASN][1000 genomes]
rs72903447	1.00[ASN][1000 genomes]
rs72903448	1.00[ASN][1000 genomes]
rs72903449	1.00[ASN][1000 genomes]
rs72903452	1.00[ASN][1000 genomes]
rs73438301	1.00[ASN][1000 genomes]
rs8084445	1.00[ASN][1000 genomes]
rs8095711	1.00[ASN][1000 genomes]
rs8098010	1.00[ASN][1000 genomes]
rs9944600	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9951642	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9954430	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9964286	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9965475	1.00[EUR][1000 genomes];1.00[ASN][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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43608600-43651000	Weak transcription	Esophagus	oesophagus
2	chr18:43608800-43631800	Weak transcription	NHLF	lung
3	chr18:43608800-43632000	Weak transcription	Aorta	Aorta
4	chr18:43609000-43622200	Weak transcription	Brain Hippocampus Middle	brain
5	chr18:43609000-43622200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr18:43609000-43622200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr18:43609000-43622200	Weak transcription	Thymus	Thymus
8	chr18:43609000-43631800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr18:43609000-43631800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr18:43609800-43628000	Weak transcription	Fetal Intestine Small	intestine
11	chr18:43613200-43622200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr18:43615800-43622200	Weak transcription	Osteobl	bone
13	chr18:43616000-43622200	Weak transcription	NHDF-Ad	bronchial
14	chr18:43616000-43622400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr18:43617400-43631800	Weak transcription	Left Ventricle	heart
16	chr18:43618800-43631000	Weak transcription	Liver	Liver
17	chr18:43618800-43631400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr18:43619200-43623400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr18:43619400-43622600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr18:43619400-43623800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr18:43619600-43622800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr18:43619600-43623800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr18:43619800-43623600	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr18:43619800-43623800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr18:43619800-43623800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr18:43619800-43623800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr18:43620000-43623200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr18:43620000-43623400	Enhancers	Primary T cells fromperipheralblood	blood
29	chr18:43620000-43623600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr18:43620000-43623800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr18:43620000-43623800	Enhancers	HMEC	breast
32	chr18:43620200-43623600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr18:43620200-43623600	Enhancers	Dnd41	blood
34	chr18:43620200-43623800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr18:43620200-43636000	Weak transcription	Lung	lung
36	chr18:43620400-43622200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr18:43620400-43623400	Enhancers	Primary hematopoietic stem cells	blood
38	chr18:43620400-43623400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr18:43620400-43623400	Enhancers	Fetal Thymus	thymus
40	chr18:43620400-43623600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr18:43620400-43623600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr18:43620400-43623800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr18:43620600-43623400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr18:43620600-43623600	Enhancers	NHEK	skin
45	chr18:43620600-43624200	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr18:43620800-43623400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr18:43620800-43623600	Enhancers	K562	blood
48	chr18:43621000-43622200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr18:43621000-43622200	Weak transcription	NH-A	brain
50	chr18:43621000-43622400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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