Variant report

Variant	rs3758935
Chromosome Location	chr11:72386679-72386680
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:72383681-72388671	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:72385808-72388645	GM12891	blood:	n/a	n/a
3	POLR2A	chr11:72385784-72390197	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72385732..72388389-chr11:72491916..72494267,2	MCF-7	breast:
2	chr11:72386670..72389230-chr11:72394217..72396573,2	MCF-7	breast:
3	chr11:72384074..72385585-chr11:72386422..72389331,2	K562	blood:
4	chr11:72385920..72387778-chr11:72388212..72390871,2	K562	blood:
5	chr11:72384986..72386563-chr11:72386586..72388092,2	MCF-7	breast:
6	chr11:72379111..72381270-chr11:72386262..72388515,2	MCF-7	breast:

No data

Variant related genes	Relation type
PDE2A	TF binding region
ENSG00000214530	Chromatin interaction
ENSG00000256007	Chromatin interaction
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11235556	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11235557	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11235558	0.92[ASN][1000 genomes]
rs11235559	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12146545	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12362256	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12363065	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12576046	0.93[ASN][1000 genomes]
rs12576058	0.93[ASN][1000 genomes]
rs12786302	0.91[ASN][1000 genomes]
rs12787293	0.93[ASN][1000 genomes]
rs12797368	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12797791	0.81[EUR][1000 genomes]
rs12799451	0.93[ASN][1000 genomes]
rs12802369	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12804316	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1391888	0.82[ASN][1000 genomes]
rs163694	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168175	0.89[ASN][1000 genomes]
rs1872126	0.92[ASN][1000 genomes]
rs189332	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2035467	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2037030	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2306609	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs341051	0.83[EUR][1000 genomes]
rs341052	0.84[EUR][1000 genomes]
rs341053	0.92[ASN][1000 genomes]
rs341060	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs341061	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs341062	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34142547	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs342322	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34285624	0.93[ASN][1000 genomes]
rs34802028	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35748558	0.93[ASN][1000 genomes]
rs3758934	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3758936	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781913	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3781916	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56133505	0.83[EUR][1000 genomes]
rs7126790	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs900613	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs900614	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs900615	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs907853	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs907854	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs907856	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs907857	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs907858	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs932074	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs932075	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
4	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72380600-72395400	Weak transcription	Right Atrium	heart
2	chr11:72385200-72387800	Enhancers	Fetal Brain Male	brain
3	chr11:72385400-72388400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:72385400-72388600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:72385400-72394600	Weak transcription	Gastric	stomach
6	chr11:72386000-72388000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
7	chr11:72386000-72388600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:72386200-72387600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:72386200-72387800	Bivalent Enhancer	Brain Germinal Matrix	brain
10	chr11:72386400-72388600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr11:72386600-72386800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:72386600-72387400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell

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