Variant report

Variant	rs7511168
Chromosome Location	chr22:29839503-29839504
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	TEAD4	chr22:29839411-29839921	ECC-1	luminal epithelium:	n/a	n/a
2	TEAD4	chr22:29839493-29839839	ECC-1	luminal epithelium:	n/a	n/a
3	CEBPB	chr22:29839063-29839837	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29838351..29841311-chr22:29875165..29877820,4	K562	blood:

Variant related genes	Relation type
RFPL1S	TF binding region
ENSG00000100285	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs165627	0.89[ASN][1000 genomes]
rs165865	0.87[ASN][1000 genomes]
rs16987752	0.85[EUR][1000 genomes]
rs174712	0.92[ASN][1000 genomes]
rs174719	0.83[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2072303	0.92[EUR][1000 genomes]
rs2074947	0.85[EUR][1000 genomes]
rs2074949	0.85[EUR][1000 genomes]
rs2074950	0.85[EUR][1000 genomes]
rs2267146	0.92[EUR][1000 genomes]
rs2270079	0.92[EUR][1000 genomes]
rs2302140	0.85[EUR][1000 genomes]
rs2302142	0.85[EUR][1000 genomes]
rs380350	0.89[ASN][1000 genomes]
rs420395	0.89[ASN][1000 genomes]
rs57230076	0.85[EUR][1000 genomes]
rs57995671	0.92[EUR][1000 genomes]
rs58189880	0.85[EUR][1000 genomes]
rs58619916	0.89[ASN][1000 genomes]
rs8140270	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS 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	19 gene(s)	inside rSNPs	diseases
4	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1060197	chr22:29817507-29842511	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 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	chr22:29831400-29849800	Weak transcription	Fetal Intestine Small	intestine
2	chr22:29834200-29850200	Weak transcription	Ovary	ovary
3	chr22:29836000-29859400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr22:29836200-29863200	Weak transcription	Fetal Brain Female	brain
5	chr22:29836600-29866000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr22:29836800-29840200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:29836800-29841200	Weak transcription	Brain Anterior Caudate	brain
8	chr22:29839000-29840200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr22:29839000-29840400	Enhancers	Hela-S3	cervix
10	chr22:29839200-29840000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr22:29839200-29840400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:29839400-29839600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr22:29839400-29839600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr22:29839400-29839600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
15	chr22:29839400-29839800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr22:29839400-29839800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr22:29839400-29839800	Enhancers	HSMMtube	muscle
18	chr22:29839400-29840000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr22:29839400-29840200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:29839400-29840200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr22:29839400-29840400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr22:29839400-29840400	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links