Variant report

Variant	rs12158662
Chromosome Location	chr22:31745206-31745207
allele	G/T
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	POLR2A	chr22:31745191-31745207	K562	blood:	n/a	n/a
2	POLR2A	chr22:31745015-31745284	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr22:31744765-31745209	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr22:31744529-31745435	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr22:31744774-31745554	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr22:31744743-31745420	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31738670..31747056-chr22:31790500..31799012,36	MCF-7	breast:
2	chr22:31737798..31746418-chr22:31793074..31801662,34	MCF-7	breast:
3	chr22:31741223..31743821-chr22:31744774..31746588,4	K562	blood:
4	chr22:31696471..31699232-chr22:31743755..31746050,2	MCF-7	breast:

Variant related genes	Relation type
PATZ1	TF binding region
ENSG00000185721	Chromatin interaction
ENSG00000100105	Chromatin interaction
ENSG00000213888	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12157693	0.87[AFR][1000 genomes]
rs12157806	1.00[AFR][1000 genomes]
rs12158256	1.00[EUR][1000 genomes]
rs12170790	1.00[EUR][1000 genomes]
rs2232171	1.00[EUR][1000 genomes]
rs2232180	1.00[EUR][1000 genomes]
rs28639919	1.00[AFR][1000 genomes]
rs35239241	1.00[EUR][1000 genomes]
rs5994374	1.00[EUR][1000 genomes]
rs5997890	1.00[EUR][1000 genomes]
rs5997936	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5997964	0.87[AFR][1000 genomes]
rs61736799	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv3333136	chr22:31704947-31758417	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv1816779	chr22:31743711-31797094	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 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	chr22:31744000-31745800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr22:31744000-31746000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:31744000-31746000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr22:31744000-31746200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:31744000-31746200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr22:31744000-31746200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr22:31744000-31746200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr22:31744000-31746200	Weak transcription	A549	lung
9	chr22:31744000-31746600	Weak transcription	Fetal Lung	lung
10	chr22:31744000-31762200	Weak transcription	Right Atrium	heart
11	chr22:31744200-31745800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr22:31744200-31746000	Weak transcription	HSMMtube	muscle
13	chr22:31744200-31746400	Weak transcription	Liver	Liver
14	chr22:31744200-31746400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr22:31744200-31746400	Weak transcription	Fetal Heart	heart
16	chr22:31744200-31746400	Weak transcription	Fetal Stomach	stomach
17	chr22:31744200-31746600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr22:31744200-31748400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr22:31744200-31750400	Weak transcription	Spleen	Spleen
20	chr22:31745000-31745800	Weak transcription	HepG2	liver
21	chr22:31745000-31746600	Weak transcription	Pancreas	Pancrea
22	chr22:31745200-31751400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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