Variant report

Variant	rs3762795
Chromosome Location	chr3:46907435-46907436
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46658701..46661042-chr3:46905477..46908148,2	MCF-7	breast:
2	chr3:46905861..46908182-chr3:46909321..46912349,4	K562	blood:
3	chr3:46893593..46896051-chr3:46906062..46908471,2	K562	blood:
4	chr3:46907320..46909923-chr3:46919093..46921760,2	K562	blood:
5	chr3:46792775..46794351-chr3:46906387..46908133,2	K562	blood:
6	chr3:46906899..46908825-chr3:46935706..46937551,2	K562	blood:

Variant related genes	Relation type
ENSG00000160801	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12106917	0.85[AMR][1000 genomes]
rs12107311	0.86[AMR][1000 genomes]
rs1531136	0.94[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1869868	0.87[EUR][1000 genomes]
rs2227294	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28440083	0.86[AMR][1000 genomes]
rs28493273	0.85[AMR][1000 genomes]
rs4683304	0.85[AMR][1000 genomes]
rs57459864	0.86[EUR][1000 genomes]
rs6763563	0.82[AMR][1000 genomes]
rs6778207	0.85[AMR][1000 genomes]
rs6781694	0.85[AMR][1000 genomes]
rs67839338	0.81[EUR][1000 genomes]
rs6791251	0.85[AMR][1000 genomes]
rs6800199	0.85[AMR][1000 genomes]
rs6807818	0.85[AMR][1000 genomes]
rs7624422	0.85[AMR][1000 genomes]
rs7636089	0.85[AMR][1000 genomes]
rs877670	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007449	chr3:46652343-46986578	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv536554	chr3:46652343-46986578	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv2757869	chr3:46680452-46972489	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv2759147	chr3:46680452-46972489	Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv915922	chr3:46768104-47009805	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv590205	chr3:46852679-46929546	Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1003979	chr3:46853374-46943854	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv590206	chr3:46873957-46935527	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv876752	chr3:46879831-46967040	Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv876753	chr3:46884552-46957298	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv876754	chr3:46884552-46967040	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv876755	chr3:46895109-47061183	Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
14	nsv590207	chr3:46903361-46919379	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3762795	KLHL18	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46888000-46908800	Weak transcription	Esophagus	oesophagus
2	chr3:46897000-46908600	Weak transcription	Gastric	stomach
3	chr3:46898800-46908400	Weak transcription	Liver	Liver
4	chr3:46901000-46909000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:46902200-46908400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr3:46903600-46908200	Weak transcription	Pancreas	Pancrea
7	chr3:46904600-46911600	Enhancers	Placenta	Placenta
8	chr3:46905200-46911400	Enhancers	Fetal Lung	lung
9	chr3:46905400-46908600	Weak transcription	Psoas Muscle	Psoas
10	chr3:46905400-46910200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:46905600-46908000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:46905600-46908600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:46905600-46910400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:46905800-46908600	Enhancers	Adipose Nuclei	Adipose
15	chr3:46905800-46909800	Enhancers	Fetal Stomach	stomach
16	chr3:46906000-46907600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr3:46906000-46910000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr3:46906000-46911600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr3:46906200-46907600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr3:46906200-46907600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr3:46906200-46907800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:46906200-46910400	Enhancers	Fetal Heart	heart
23	chr3:46906400-46908600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr3:46906400-46908800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:46906600-46908400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr3:46906600-46908800	Weak transcription	NHDF-Ad	bronchial
27	chr3:46906600-46910600	Enhancers	Right Ventricle	heart
28	chr3:46906800-46907800	Weak transcription	Left Ventricle	heart
29	chr3:46906800-46907800	Weak transcription	Right Atrium	heart
30	chr3:46906800-46908200	Weak transcription	HSMMtube	muscle
31	chr3:46906800-46908400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:46906800-46908600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:46906800-46920000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:46907000-46908400	Weak transcription	Fetal Intestine Large	intestine
35	chr3:46907000-46908400	Weak transcription	Ovary	ovary
36	chr3:46907000-46909400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr3:46907200-46908200	Weak transcription	Fetal Muscle Leg	muscle
38	chr3:46907200-46908400	Weak transcription	Brain Hippocampus Middle	brain
39	chr3:46907200-46908600	Weak transcription	Fetal Intestine Small	intestine
40	chr3:46907200-46909000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr3:46907200-46909200	Weak transcription	HSMM	muscle
42	chr3:46907400-46907800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:46907400-46908400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr3:46907400-46908600	Weak transcription	Lung	lung
45	chr3:46907400-46908800	Weak transcription	Spleen	Spleen

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