Variant report

Variant	rs163694
Chromosome Location	chr11:72388934-72388935
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:72388891-72389118	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:72388412-72389018	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:72388928-72388984	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr11:72388899-72396049	K562	blood:	n/a	n/a
5	POLR2A	chr11:72388808-72388984	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr11:72388792-72395937	GM12891	blood:	n/a	n/a
7	POLR2A	chr11:72388800-72396117	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:72388894-72394108	A549	lung:	n/a	n/a
9	POLR2A	chr11:72385784-72390197	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr11:72388913-72391143	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:72388856-72389033	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72388590..72390821-chr11:72491709..72494261,2	MCF-7	breast:
2	chr11:72386670..72389230-chr11:72394217..72396573,2	MCF-7	breast:
3	chr11:72388034..72392133-chr11:72393186..72397535,6	MCF-7	breast:
4	chr11:72384074..72385585-chr11:72386422..72389331,2	K562	blood:
5	chr11:72364782..72367221-chr11:72388172..72389961,2	K562	blood:
6	chr11:72385920..72387778-chr11:72388212..72390871,2	K562	blood:
7	chr11:72351275..72353483-chr11:72388589..72391292,2	K562	blood:

No data

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

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10793036	0.81[CHB][hapmap]
rs11235551	0.81[CHB][hapmap]
rs11235556	0.81[ASN][1000 genomes]
rs11235557	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11235558	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11235559	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12146545	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs12362256	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12363065	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12576046	0.93[ASN][1000 genomes]
rs12576058	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs12786302	0.91[ASN][1000 genomes]
rs12787293	0.93[ASN][1000 genomes]
rs12797368	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12797791	0.93[CHB][hapmap]
rs12799451	0.93[ASN][1000 genomes]
rs12802369	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12804316	1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1391888	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs168175	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1872126	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs189332	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1980089	0.81[CHB][hapmap]
rs2035467	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2037030	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2306609	0.82[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs341052	0.94[CHB][hapmap]
rs341053	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs341060	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs341061	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs341062	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34142547	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34173798	0.80[AMR][1000 genomes]
rs342322	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34285624	0.93[ASN][1000 genomes]
rs34802028	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35748558	0.93[ASN][1000 genomes]
rs3758934	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3758935	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758936	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781913	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3781916	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs458275	0.94[CHB][hapmap]
rs458575	0.81[CHB][hapmap]
rs7126790	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs900613	0.82[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs900614	0.83[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs900615	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs90409	0.87[CHB][hapmap]
rs907853	0.81[ASN][1000 genomes]
rs907854	0.81[ASN][1000 genomes]
rs907856	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs907857	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs907858	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs932074	0.82[ASN][1000 genomes]
rs932075	0.89[EUR][1000 genomes];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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72380600-72395400	Weak transcription	Right Atrium	heart
2	chr11:72385400-72394600	Weak transcription	Gastric	stomach
3	chr11:72388000-72394400	Weak transcription	Brain Substantia Nigra	brain
4	chr11:72388000-72397200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:72388200-72391600	Weak transcription	Brain Angular Gyrus	brain
6	chr11:72388200-72396400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr11:72388400-72390800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:72388400-72391400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:72388400-72391800	Weak transcription	Ovary	ovary
10	chr11:72388600-72390000	Weak transcription	Right Ventricle	heart
11	chr11:72388600-72391200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:72388600-72392400	Weak transcription	Pancreas	Pancrea
13	chr11:72388600-72395000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:72388600-72396000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr11:72388800-72392000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell

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