Variant report

Variant	rs535992978
Chromosome Location	chr3:49976795-49976796
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:49976773-49978291	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:49965505..49970003-chr3:49974970..49980028,17	K562	blood:
2	chr3:49966957..49970009-chr3:49975972..49978983,5	MCF-7	breast:
3	chr3:49976300..49979550-chr3:50125389..50128777,3	K562	blood:
4	chr3:49935827..49937610-chr3:49975872..49978554,2	K562	blood:
5	chr3:49965505..49970003-chr3:49975811..49980300,11	K562	blood:
6	chr3:49892284..49895111-chr3:49976165..49977880,2	K562	blood:
7	chr3:49975788..49978611-chr3:50125447..50127862,2	MCF-7	breast:
8	chr3:49823173..49825666-chr3:49976602..49979269,2	MCF-7	breast:
9	chr3:49965568..49971141-chr3:49975411..49979217,7	MCF-7	breast:

No data

Variant related genes	Relation type
RBM6	TF binding region
ENSG00000183763	Chromatin interaction
ENSG00000003756	Chromatin interaction
ENSG00000176095	Chromatin interaction
ENSG00000164077	Chromatin interaction
ENSG00000230698	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv834689	chr3:49962930-50085119	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv965334	chr3:49967342-50000012	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
5	nsv513047	chr3:49974660-49977265	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	esv2517369	chr3:49975235-49977296	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
7	esv3433975	chr3:49975679-49977391	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
8	esv3345193	chr3:49975875-49977841	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
9	esv3421180	chr3:49976028-49977058	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	esv2107111	chr3:49976038-49977099	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	esv3463337	chr3:49976144-49977014	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	esv3463338	chr3:49976144-49977014	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	esv1004636	chr3:49976226-49977653	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49967600-49977400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:49967800-49977000	Weak transcription	Primary B cells from cord blood	blood
3	chr3:49967800-49977000	Weak transcription	NHLF	lung
4	chr3:49968800-49976800	Weak transcription	HepG2	liver
5	chr3:49969200-49977000	Weak transcription	K562	blood
6	chr3:49974600-49977000	Weak transcription	Fetal Intestine Large	intestine
7	chr3:49974800-49976800	Weak transcription	GM12878-XiMat	blood
8	chr3:49975000-49976800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:49975000-49977000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr3:49975000-49977400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr3:49975200-49977000	Weak transcription	Adipose Nuclei	Adipose
12	chr3:49975400-49977000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:49975400-49977000	Weak transcription	Fetal Intestine Small	intestine
14	chr3:49975600-49977000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:49975600-49977000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr3:49976600-49976800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:49976600-49976800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr3:49976600-49976800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr3:49976600-49976800	Weak transcription	Hela-S3	cervix
20	chr3:49976600-49977000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:49976600-49977000	Enhancers	Brain Hippocampus Middle	brain
22	chr3:49976600-49977400	Enhancers	Primary monocytes fromperipheralblood	blood

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