Variant report

Variant	rs73396214
Chromosome Location	chr22:31745916-31745917
allele	C/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	chr22:31745884-31746051	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr22:31745831-31745933	Hela-S3	cervix:	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	chr17:61043432..61045215-chr22:31745449..31748247,2	MCF-7	breast:
4	chr22:31741223..31743821-chr22:31744774..31746588,4	K562	blood:
5	chr22:31696471..31699232-chr22:31743755..31746050,2	MCF-7	breast:

Variant related genes	Relation type
PATZ1	TF binding region
ENSG00000213888	Chromatin interaction
ENSG00000185721	Chromatin interaction
ENSG00000100105	Chromatin interaction
ENSG00000263931	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16989386	0.83[AFR][1000 genomes]
rs16989439	1.00[AMR][1000 genomes]
rs16989458	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16989527	1.00[AMR][1000 genomes]
rs73392247	1.00[AMR][1000 genomes]
rs73392299	1.00[AMR][1000 genomes]
rs73394316	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394338	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394364	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396219	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396221	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396224	1.00[AMR][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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31744000-31746000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr22:31744000-31746000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr22:31744000-31746200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:31744000-31746200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:31744000-31746200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr22:31744000-31746200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr22:31744000-31746200	Weak transcription	A549	lung
8	chr22:31744000-31746600	Weak transcription	Fetal Lung	lung
9	chr22:31744000-31762200	Weak transcription	Right Atrium	heart
10	chr22:31744200-31746000	Weak transcription	HSMMtube	muscle
11	chr22:31744200-31746400	Weak transcription	Liver	Liver
12	chr22:31744200-31746400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr22:31744200-31746400	Weak transcription	Fetal Heart	heart
14	chr22:31744200-31746400	Weak transcription	Fetal Stomach	stomach
15	chr22:31744200-31746600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr22:31744200-31748400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr22:31744200-31750400	Weak transcription	Spleen	Spleen
18	chr22:31745000-31746600	Weak transcription	Pancreas	Pancrea
19	chr22:31745200-31751400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:31745800-31747000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr22:31745800-31747400	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links