Variant report

Variant	rs10072369
Chromosome Location	chr5:96520112-96520113
allele	C/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	HCFC1	chr5:96518495-96520248	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr5:96518566-96520222	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr5:96518545-96520166	SK-N-MC	brain:	n/a	n/a
4	E2F6	chr5:96518652-96520143	H1-hESC	embryonic stem cell:	n/a	chr5:96518998-96519007 chr5:96519511-96519520

No.	Distal block	Cell Line	Cell type
1	chr5:96505549..96507976-chr5:96519747..96521338,2	MCF-7	breast:
2	chr5:96508014..96513294-chr5:96513654..96520413,9	K562	blood:
3	chr5:96519642..96521582-chr5:96527509..96529068,2	MCF-7	breast:

Variant related genes	Relation type
RIOK2	TF binding region
ENSG00000206698	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12515176	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1363943	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2216709	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2544773	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs316183	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs316184	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs316185	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs316186	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs316191	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs316192	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs316193	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs316194	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs316196	0.86[AMR][1000 genomes]
rs316197	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs316200	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs316215	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35824066	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3906410	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs43497	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72777622	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv830412	chr5:96427305-96606619	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1019790	chr5:96471680-96980633	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv537812	chr5:96471680-96980633	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv882391	chr5:96496189-96533469	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv882392	chr5:96496189-96546238	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers 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 target site	15 gene(s)	inside rSNPs	diseases
8	nsv882393	chr5:96496189-96567950	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96516600-96520200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:96517200-96520200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:96518200-96520200	Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr5:96518200-96520200	Active TSS	Colonic Mucosa	Colon
5	chr5:96518200-96520200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr5:96518200-96520200	Active TSS	Rectal Smooth Muscle	rectum
7	chr5:96518400-96520200	Active TSS	Fetal Brain Female	brain
8	chr5:96519200-96526200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:96519600-96520200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr5:96519600-96520200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr5:96519600-96520200	Flanking Active TSS	Hela-S3	cervix
12	chr5:96519600-96520400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:96519600-96520600	Flanking Active TSS	Dnd41	blood
14	chr5:96519800-96520200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:96519800-96520200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:96519800-96520200	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr5:96519800-96520200	Enhancers	Lung	lung
18	chr5:96519800-96520200	Enhancers	GM12878-XiMat	blood
19	chr5:96519800-96521800	Enhancers	HepG2	liver
20	chr5:96520000-96520200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:96520000-96520200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:96520000-96520200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr5:96520000-96520200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr5:96520000-96520200	Enhancers	Primary B cells from peripheral blood	blood
25	chr5:96520000-96520200	Enhancers	Primary T cells fromperipheralblood	blood
26	chr5:96520000-96520200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr5:96520000-96520200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:96520000-96520200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:96520000-96520200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:96520000-96520200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr5:96520000-96520200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:96520000-96520200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:96520000-96520200	Enhancers	Adipose Nuclei	Adipose
34	chr5:96520000-96520200	Enhancers	Liver	Liver
35	chr5:96520000-96520200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr5:96520000-96520200	Enhancers	Fetal Brain Male	brain
37	chr5:96520000-96520200	Enhancers	Fetal Intestine Small	intestine
38	chr5:96520000-96520200	Enhancers	Fetal Muscle Trunk	muscle
39	chr5:96520000-96520200	Enhancers	Fetal Muscle Leg	muscle
40	chr5:96520000-96520200	Enhancers	Placenta	Placenta
41	chr5:96520000-96520200	Flanking Active TSS	Psoas Muscle	Psoas
42	chr5:96520000-96520200	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr5:96520000-96520200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr5:96520000-96520200	Enhancers	Thymus	Thymus
45	chr5:96520000-96520200	Active TSS	A549	lung
46	chr5:96520000-96520200	Enhancers	K562	blood
47	chr5:96520000-96520400	Enhancers	Brain Hippocampus Middle	brain
48	chr5:96520000-96520400	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr5:96520000-96521200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr5:96520000-96521400	Weak transcription	Primary B cells from cord blood	blood

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