Variant report

Variant	rs17124145
Chromosome Location	chr12:50317922-50317923
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	MAFK	chr12:50317906-50318243	HepG2	liver:	n/a	chr12:50318079-50318090 chr12:50318082-50318098 chr12:50318079-50318094 chr12:50318079-50318090 chr12:50318080-50318091 chr12:50318080-50318100 chr12:50318078-50318092 chr12:50318083-50318097 chr12:50318079-50318095
2	MAFF	chr12:50317918-50318229	HepG2	liver:	n/a	chr12:50318077-50318095

No.	Distal block	Cell Line	Cell type
1	chr12:50305622..50307544-chr12:50317876..50320067,2	MCF-7	breast:
2	chr12:50316423..50318171-chr12:50364926..50367311,2	K562	blood:
3	chr12:50315990..50318398-chr12:50322929..50325174,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AQP2-1	chr12:50317565-50318296	XLOC_009748
2	lnc-AQP2-1	chr12:50317565-50318296	ENSG00000257771
3	lnc-AQP2-1	chr12:50317565-50318296	NONHSAT028156

Variant related genes	Relation type
ENSG00000257771	TF binding region
ENSG00000257771	Chromatin interaction
ENSG00000258135	Chromatin interaction
ENSG00000086159	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs921694	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50304200-50319200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:50311600-50319200	Weak transcription	Fetal Brain Male	brain
3	chr12:50313400-50320000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:50314800-50325000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:50315600-50318800	Enhancers	Right Atrium	heart
6	chr12:50315800-50318200	Enhancers	Left Ventricle	heart
7	chr12:50315800-50319400	Enhancers	Adipose Nuclei	Adipose
8	chr12:50316000-50318200	Enhancers	Ovary	ovary
9	chr12:50316000-50318600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:50316000-50318600	Weak transcription	Esophagus	oesophagus
11	chr12:50316000-50319000	Enhancers	Fetal Muscle Trunk	muscle
12	chr12:50316000-50319400	Enhancers	Fetal Heart	heart
13	chr12:50316000-50319600	Enhancers	Fetal Muscle Leg	muscle
14	chr12:50316200-50321600	Weak transcription	Hela-S3	cervix
15	chr12:50316600-50318200	Enhancers	Fetal Stomach	stomach
16	chr12:50316600-50333200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:50317200-50318400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:50317200-50319200	Weak transcription	Pancreas	Pancrea
19	chr12:50317400-50318000	Weak transcription	Right Ventricle	heart
20	chr12:50317600-50318000	Enhancers	Stomach Smooth Muscle	stomach
21	chr12:50317800-50320000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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