Variant report

Variant	rs11145010
Chromosome Location	chr9:79307934-79307935
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	CEBPB	chr9:79307718-79307984	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr9:79307638-79307963	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF384	chr9:79307829-79308001	K562	blood:	n/a	n/a
4	TEAD4	chr9:79307617-79307953	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:79307128..79309630-chr9:79312231..79313981,2	MCF-7	breast:

Variant related genes	Relation type
PRUNE2	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10512061	0.83[EUR][1000 genomes]
rs10869796	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10869798	0.82[EUR][1000 genomes]
rs11145011	0.80[EUR][1000 genomes]
rs1974326	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2113942	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3739521	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040363	chr9:79246366-79711737	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv893481	chr9:79304043-79348193	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79300400-79332200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr9:79306600-79308000	Flanking Active TSS	Brain Cingulate Gyrus	brain
3	chr9:79306600-79308000	Enhancers	Gastric	stomach
4	chr9:79306800-79308000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
5	chr9:79307200-79308000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:79307200-79308400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:79307200-79308600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:79307200-79308800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr9:79307400-79308000	Enhancers	Fetal Intestine Small	intestine
10	chr9:79307400-79308000	Enhancers	Fetal Muscle Leg	muscle
11	chr9:79307400-79308600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr9:79307400-79308600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr9:79307400-79309000	Enhancers	Fetal Thymus	thymus
14	chr9:79307400-79310400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr9:79307400-79315800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr9:79307400-79317600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:79307600-79308000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr9:79307600-79308000	Enhancers	Aorta	Aorta
19	chr9:79307600-79308000	Enhancers	Brain Substantia Nigra	brain
20	chr9:79307600-79308000	Enhancers	Fetal Brain Male	brain
21	chr9:79307600-79308600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr9:79307600-79308800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr9:79307600-79312000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:79307600-79312200	Weak transcription	HSMMtube	muscle
25	chr9:79307600-79312400	Weak transcription	Stomach Mucosa	stomach
26	chr9:79307600-79314400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:79307600-79314600	Weak transcription	Colon Smooth Muscle	Colon
28	chr9:79307600-79315800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr9:79307800-79308000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr9:79307800-79308000	Enhancers	Brain Angular Gyrus	brain
31	chr9:79307800-79308200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr9:79307800-79308200	Enhancers	Duodenum Mucosa	Duodenum
33	chr9:79307800-79308400	Enhancers	Brain Hippocampus Middle	brain
34	chr9:79307800-79309600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:79307800-79312400	Weak transcription	HSMM	muscle
36	chr9:79307800-79314400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr9:79307800-79314800	Weak transcription	Fetal Brain Female	brain
38	chr9:79307800-79316000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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