Variant report

Variant	rs2604050
Chromosome Location	chr12:31753191-31753192
allele	A/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	CTCF	chr12:31753188-31753504	K562	blood:	n/a	chr12:31753280-31753289
2	CTCF	chr12:31753160-31753310	GM12873	blood:	n/a	chr12:31753280-31753289
3	CTCF	chr12:31753123-31753494	H1-hESC	embryonic stem cell:	n/a	chr12:31753280-31753289
4	RAD21	chr12:31753102-31753598	HCT-116	colon:	n/a	n/a
5	RAD21	chr12:31753153-31753558	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr12:31753110-31753639	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr12:31753106-31753600	ECC-1	luminal epithelium:	n/a	n/a
8	CTCF	chr12:31753180-31753330	GM12864	blood:	n/a	chr12:31753280-31753289
9	RAD21	chr12:31753106-31753476	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
RPL31P50	TF binding region

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs11051457	0.83[AFR][1000 genomes]
rs1150944	0.87[AFR][1000 genomes]
rs1150946	0.87[AFR][1000 genomes]
rs1150947	0.86[AFR][1000 genomes]
rs1150951	0.85[AFR][1000 genomes]
rs1150952	0.83[AFR][1000 genomes]
rs1150956	0.85[AFR][1000 genomes]
rs1150957	0.85[AFR][1000 genomes]
rs1150958	0.82[AFR][1000 genomes]
rs1150959	0.92[AFR][1000 genomes]
rs1150960	0.92[AFR][1000 genomes]
rs1150961	0.92[AFR][1000 genomes]
rs12302576	0.88[AFR][1000 genomes]
rs12305954	0.89[AFR][1000 genomes]
rs1259215	0.85[AFR][1000 genomes]
rs1259237	0.83[AFR][1000 genomes]
rs1259240	0.83[AFR][1000 genomes]
rs1259357	0.82[AFR][1000 genomes]
rs1259358	0.92[AFR][1000 genomes]
rs1259387	0.92[AFR][1000 genomes]
rs1259388	0.85[AFR][1000 genomes]
rs1259390	0.92[AFR][1000 genomes]
rs1259391	0.83[AFR][1000 genomes]
rs1259392	0.80[AFR][1000 genomes]
rs1259394	0.85[AFR][1000 genomes]
rs1259397	0.83[AFR][1000 genomes]
rs1259402	0.90[AFR][1000 genomes]
rs1259403	0.90[AFR][1000 genomes]
rs1259406	0.92[AFR][1000 genomes]
rs1259407	0.92[AFR][1000 genomes]
rs1259408	0.92[AFR][1000 genomes]
rs1259410	0.92[AFR][1000 genomes]
rs1259411	0.92[AFR][1000 genomes]
rs1259412	0.92[AFR][1000 genomes]
rs1259416	0.92[AFR][1000 genomes]
rs1259421	0.92[AFR][1000 genomes]
rs1259424	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1259425	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1259429	0.87[AFR][1000 genomes]
rs1259436	0.87[AFR][1000 genomes]
rs1259440	0.85[AFR][1000 genomes]
rs1262389	0.83[AFR][1000 genomes]
rs1262391	0.85[AFR][1000 genomes]
rs1267631	0.81[AFR][1000 genomes]
rs1267686	0.92[AFR][1000 genomes]
rs1267688	0.92[AFR][1000 genomes]
rs1267689	0.85[AFR][1000 genomes]
rs1270211	0.85[AFR][1000 genomes]
rs1271127	0.85[AFR][1000 genomes]
rs1271661	0.85[AFR][1000 genomes]
rs1271662	0.85[AFR][1000 genomes]
rs1273260	0.92[AFR][1000 genomes]
rs1533704	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1623868	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1677142	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1677155	0.92[AFR][1000 genomes]
rs1677156	0.92[AFR][1000 genomes]
rs1677182	0.92[AFR][1000 genomes]
rs1677188	0.92[AFR][1000 genomes]
rs1677190	0.88[AFR][1000 genomes]
rs1677203	0.81[ASN][1000 genomes]
rs1677215	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1716193	0.82[AFR][1000 genomes]
rs1716213	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2617179	0.85[AFR][1000 genomes]
rs2617186	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2617187	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2617210	0.90[AFR][1000 genomes]
rs2679493	0.92[AFR][1000 genomes]
rs2679501	0.85[AFR][1000 genomes]
rs2682461	0.92[AFR][1000 genomes]
rs2682690	0.83[AFR][1000 genomes]
rs478620	0.95[EUR][1000 genomes]
rs56244356	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs793172	0.85[AFR][1000 genomes]
rs793178	0.85[AFR][1000 genomes]
rs811088	0.85[AFR][1000 genomes]
rs971294	0.83[AFR][1000 genomes]
rs973510	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv898965	chr12:31631819-31771689	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv1797962	chr12:31733044-31761172	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31745400-31760400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:31750200-31758000	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:31752600-31753400	Enhancers	GM12878-XiMat	blood
4	chr12:31752800-31757200	Enhancers	Primary B cells from cord blood	blood

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