Variant report

Variant	rs907850
Chromosome Location	chr11:72296039-72296040
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	MXI1	chr11:72295572-72296046	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZKSCAN1	chr11:72295970-72296340	Hela-S3	cervix:	n/a	n/a
3	E2F6	chr11:72295220-72296087	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr11:72295202-72296160	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr11:72295900-72296050	GM12872	blood:	n/a	n/a
6	MAX	chr11:72295159-72296147	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr11:72295920-72296070	HBMEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72294789..72296496-chr11:72299692..72301673,2	MCF-7	breast:
2	chr11:72293642..72296987-chr11:72305169..72308806,3	K562	blood:

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

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10793036	0.87[ASN][1000 genomes]
rs11235546	0.87[ASN][1000 genomes]
rs1135029	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605051	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1467135	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168173	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1980089	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1980090	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280098	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs341049	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs341086	0.88[ASN][1000 genomes]
rs341088	0.91[ASN][1000 genomes]
rs3781938	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781939	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs429075	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943939	0.91[ASN][1000 genomes]
rs56350365	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895571	0.87[ASN][1000 genomes]
rs90409	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS 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
2	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
3	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
4	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
5	nsv468633	chr11:72281884-72336564	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv468634	chr11:72281884-72336564	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv555406	chr11:72281884-72336564	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
8	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
9	nsv468635	chr11:72284569-72336564	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv555407	chr11:72284569-72336564	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1042182	chr11:72294042-72348491	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72285000-72296200	Weak transcription	Liver	Liver
2	chr11:72287400-72296600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:72287800-72296400	Strong transcription	Stomach Smooth Muscle	stomach
4	chr11:72289400-72299800	Weak transcription	Lung	lung
5	chr11:72293600-72298200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:72293600-72300800	Weak transcription	Left Ventricle	heart
7	chr11:72293800-72296200	Weak transcription	Brain Angular Gyrus	brain
8	chr11:72294400-72297200	Enhancers	Pancreas	Pancrea
9	chr11:72294600-72300000	Weak transcription	Brain Anterior Caudate	brain
10	chr11:72295000-72296200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr11:72295000-72296200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr11:72295000-72296200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr11:72295000-72297400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr11:72295000-72300800	Weak transcription	Right Ventricle	heart
15	chr11:72295200-72296200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr11:72295200-72296200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr11:72295200-72296200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:72295200-72296200	Bivalent Enhancer	Fetal Stomach	stomach
19	chr11:72295200-72296800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr11:72295200-72296800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:72295200-72297200	Bivalent Enhancer	Placenta	Placenta
22	chr11:72295200-72297400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
23	chr11:72295200-72297400	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr11:72295200-72303000	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:72295400-72296200	Bivalent/Poised TSS	Thymus	Thymus
26	chr11:72295400-72296400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:72295600-72296200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:72295600-72296200	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr11:72295600-72296200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
30	chr11:72295600-72296200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:72295600-72296200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:72295600-72296200	Bivalent Enhancer	Fetal Intestine Small	intestine
33	chr11:72295600-72296200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
34	chr11:72295600-72296200	Flanking Bivalent TSS/Enh	NHEK	skin
35	chr11:72295600-72296400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
36	chr11:72295600-72296800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
37	chr11:72295600-72296800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:72295600-72297800	Genic enhancers	Spleen	Spleen
39	chr11:72295800-72296200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:72295800-72296200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:72295800-72296200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
42	chr11:72295800-72296200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:72295800-72296200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:72295800-72296200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:72295800-72296200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
46	chr11:72295800-72296200	Bivalent Enhancer	Fetal Thymus	thymus
47	chr11:72295800-72296200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
48	chr11:72295800-72296400	Bivalent Enhancer	Brain Germinal Matrix	brain
49	chr11:72295800-72296600	Strong transcription	Brain Cingulate Gyrus	brain
50	chr11:72295800-72296800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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