Variant report

Variant	rs7633581
Chromosome Location	chr3:46906593-46906594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:46906540-46906690	HBMEC	blood vessel:	n/a	n/a
2	POLR2A	chr3:46906551-46906607	MCF-7	breast:	n/a	n/a
3	RAD21	chr3:46905339-46907120	SK-N-SH	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:46905362..46907252-chr3:46950757..46952265,2	K562	blood:
2	chr3:46658701..46661042-chr3:46905477..46908148,2	MCF-7	breast:
3	chr3:46905861..46908182-chr3:46909321..46912349,4	K562	blood:
4	chr3:46893593..46896051-chr3:46906062..46908471,2	K562	blood:
5	chr3:46792775..46794351-chr3:46906387..46908133,2	K562	blood:

No data

Variant related genes	Relation type
MYL3	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1042973	1.00[CHB][hapmap];0.80[JPT][hapmap];0.86[ASN][1000 genomes]
rs12106917	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs12107311	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs12486015	0.86[CHB][hapmap]
rs12492369	0.85[CHB][hapmap]
rs12493158	0.86[CHB][hapmap]
rs1531136	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1869868	0.92[ASN][1000 genomes]
rs2242118	0.81[CEU][hapmap]
rs2385860	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3729704	0.83[CEU][hapmap];0.97[GIH][hapmap]
rs3792557	0.83[CEU][hapmap];0.97[GIH][hapmap]
rs3792558	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.81[MKK][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3792559	0.83[CEU][hapmap];0.93[GIH][hapmap]
rs4683304	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs57459864	0.90[ASN][1000 genomes]
rs6763438	0.86[CHB][hapmap]
rs6768252	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs6777190	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs6797059	0.85[CHB][hapmap]
rs6801048	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs7614762	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs877670	0.91[ASN][1000 genomes]
rs936175	0.87[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][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

No data

Chromatin state (count:49 , 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	chr3:46902800-46907000	Enhancers	Fetal Intestine Large	intestine
7	chr3:46903000-46907200	Enhancers	Fetal Intestine Small	intestine
8	chr3:46903600-46908200	Weak transcription	Pancreas	Pancrea
9	chr3:46904400-46906800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:46904600-46906600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:46904600-46911600	Enhancers	Placenta	Placenta
12	chr3:46904800-46907200	Enhancers	Fetal Muscle Leg	muscle
13	chr3:46905200-46911400	Enhancers	Fetal Lung	lung
14	chr3:46905400-46907400	Enhancers	Lung	lung
15	chr3:46905400-46908600	Weak transcription	Psoas Muscle	Psoas
16	chr3:46905400-46910200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:46905600-46907400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:46905600-46908000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:46905600-46908600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:46905600-46910400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:46905800-46906600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr3:46905800-46906800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:46905800-46907000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:46905800-46907400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr3:46905800-46908600	Enhancers	Adipose Nuclei	Adipose
26	chr3:46905800-46909800	Enhancers	Fetal Stomach	stomach
27	chr3:46906000-46907600	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr3:46906000-46910000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr3:46906000-46911600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr3:46906200-46906600	Enhancers	Brain Hippocampus Middle	brain
31	chr3:46906200-46906600	Flanking Active TSS	Right Ventricle	heart
32	chr3:46906200-46906600	Weak transcription	HSMMtube	muscle
33	chr3:46906200-46906600	Enhancers	NHDF-Ad	bronchial
34	chr3:46906200-46906800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:46906200-46906800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:46906200-46906800	Enhancers	Right Atrium	heart
37	chr3:46906200-46907000	Enhancers	Ovary	ovary
38	chr3:46906200-46907200	Enhancers	Placenta Amnion	Placenta Amnion
39	chr3:46906200-46907600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr3:46906200-46907600	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr3:46906200-46907800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:46906200-46910400	Enhancers	Fetal Heart	heart
43	chr3:46906400-46906600	Bivalent Enhancer	Osteobl	bone
44	chr3:46906400-46906800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:46906400-46906800	Enhancers	Left Ventricle	heart
46	chr3:46906400-46906800	Weak transcription	Spleen	Spleen
47	chr3:46906400-46907000	Bivalent Enhancer	NHLF	lung
48	chr3:46906400-46908600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr3:46906400-46908800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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