Variant report

Variant	rs182361684
Chromosome Location	chr3:51987466-51987467
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr3:51987444-51987836	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr3:51987432-51987872	IMR90	lung:	n/a	chr3:51987659-51987670
3	ELK1	chr3:51987460-51987859	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr3:51987241-51987805	MCF10A-Er-Src	breast:	n/a	n/a
5	RAD21	chr3:51987444-51987954	Hela-S3	cervix:	n/a	n/a
6	GTF2F1	chr3:51987415-51987856	Hela-S3	cervix:	n/a	n/a
7	JUND	chr3:51987362-51987864	Hela-S3	cervix:	n/a	n/a
8	MAFK	chr3:51987408-51987737	HepG2	liver:	n/a	chr3:51987571-51987586
9	CEBPB	chr3:51987414-51988105	Hela-S3	cervix:	n/a	chr3:51987659-51987670
10	MAFK	chr3:51987380-51987853	Hela-S3	cervix:	n/a	chr3:51987571-51987586
11	SPI1	chr3:51987421-51988653	HL-60	blood:	n/a	n/a
12	MAFK	chr3:51987453-51987718	HepG2	liver:	n/a	chr3:51987571-51987586
13	MAFK	chr3:51987230-51987811	IMR90	lung:	n/a	chr3:51987571-51987586
14	POLR2A	chr3:51987327-51987964	U87	brain:	n/a	n/a
15	JUN	chr3:51987410-51987941	K562	blood:	n/a	n/a
16	MAFF	chr3:51987437-51987706	HepG2	liver:	n/a	n/a
17	POLR2A	chr3:51987456-51988182	SK-N-SH	brain:	n/a	n/a
18	PBX3	chr3:51987371-51988087	SK-N-SH	brain:	n/a	n/a
19	ZNF263	chr3:51987183-51988137	HEK293-T-REx	kidney:	n/a	n/a
20	POLR2A	chr3:51987432-51987949	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:51985563..51987517-chr3:51990241..51992502,2	MCF-7	breast:
2	chr3:51982600..51984410-chr3:51985795..51988136,2	K562	blood:
3	chr3:51985305..51989166-chr3:51989564..51992012,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCBP4-2	chr3:51985865-51987918	NONHSAT089889

Variant related genes	Relation type
GPR62	TF binding region

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	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012847	chr3:51811062-52056727	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
3	nsv536571	chr3:51811062-52056727	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
4	nsv1003453	chr3:51962081-52099441	Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv1804090	chr3:51962081-52140591	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	esv1835339	chr3:51962081-52140591	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv1003581	chr3:51973395-52108645	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	nsv1001062	chr3:51973395-52134638	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv876780	chr3:51981021-52101799	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
10	nsv876781	chr3:51985664-52009612	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv876782	chr3:51985664-52022779	Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
12	nsv876783	chr3:51987224-52009612	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv876784	chr3:51987224-52013242	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51977200-51987600	Weak transcription	Brain Substantia Nigra	brain
2	chr3:51977200-51989200	Weak transcription	Ovary	ovary
3	chr3:51977200-51992000	Weak transcription	Aorta	Aorta
4	chr3:51977400-51989200	Weak transcription	Esophagus	oesophagus
5	chr3:51977600-51987600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:51977600-51987600	Weak transcription	HSMM	muscle
7	chr3:51977600-51989000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr3:51977600-51989000	Weak transcription	Pancreas	Pancrea
9	chr3:51977600-51989400	Weak transcription	Left Ventricle	heart
10	chr3:51977800-51987800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr3:51977800-51989400	Weak transcription	Colon Smooth Muscle	Colon
12	chr3:51980400-51989400	Weak transcription	Right Ventricle	heart
13	chr3:51980600-51989200	Weak transcription	Gastric	stomach
14	chr3:51980800-51988000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr3:51982400-51987800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr3:51983400-51988400	Weak transcription	Colonic Mucosa	Colon
17	chr3:51983400-51989000	Weak transcription	Brain Anterior Caudate	brain
18	chr3:51983400-51989000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:51983400-51989000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr3:51983400-51989400	Weak transcription	Lung	lung
21	chr3:51983600-51987800	Weak transcription	NHLF	lung
22	chr3:51983600-51989000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr3:51983600-51989200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:51983600-51989200	Weak transcription	Adipose Nuclei	Adipose
25	chr3:51983600-51989200	Weak transcription	Spleen	Spleen
26	chr3:51983800-51990200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:51984000-51989200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr3:51984400-51989200	Weak transcription	Liver	Liver
29	chr3:51986200-51993400	Weak transcription	HepG2	liver
30	chr3:51987000-51987800	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr3:51987000-51988200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:51987000-51988200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:51987000-51988400	Enhancers	Hela-S3	cervix
34	chr3:51987000-51989000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr3:51987200-51987600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:51987200-51987600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:51987200-51987600	Enhancers	HMEC	breast
38	chr3:51987200-51987800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:51987200-51987800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:51987200-51987800	Enhancers	NHDF-Ad	bronchial
41	chr3:51987200-51988000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:51987200-51988000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:51987200-51988000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:51987200-51988000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr3:51987200-51988200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:51987200-51988200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:51987200-51988200	Enhancers	Osteobl	bone
48	chr3:51987200-51989000	Enhancers	Brain Angular Gyrus	brain
49	chr3:51987200-51989000	Enhancers	Brain Hippocampus Middle	brain
50	chr3:51987400-51987800	Weak transcription	HSMMtube	muscle

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