Variant report

Variant	rs10992231
Chromosome Location	chr9:94867411-94867412
allele	A/G
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	PAX5	chr9:94866842-94867466	GM12878	blood:	n/a	n/a
2	POLR2A	chr9:94865220-94867614	GM12892	blood:	n/a	n/a
3	POLR2A	chr9:94866863-94867414	Hela-S3	cervix:	n/a	n/a
4	EP300	chr9:94867153-94867413	GM12878	blood:	n/a	n/a
5	POLR2A	chr9:94865126-94867729	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000228069	TF binding region
ENSG00000232179	TF binding region

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10820935	0.81[ASN][1000 genomes]
rs10992212	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10992215	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10992216	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10992220	0.83[ASN][1000 genomes]
rs10992222	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10992230	0.80[ASN][1000 genomes]
rs10992233	0.86[AMR][1000 genomes]
rs11533009	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12235309	0.83[ASN][1000 genomes]
rs12235310	0.81[ASN][1000 genomes]
rs12235495	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12237221	0.82[ASN][1000 genomes]
rs12237598	0.81[ASN][1000 genomes]
rs16908135	0.81[ASN][1000 genomes]
rs16908137	0.80[ASN][1000 genomes]
rs3858090	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4641129	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58909848	0.81[ASN][1000 genomes]
rs59183854	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs59856128	0.81[ASN][1000 genomes]
rs7022553	0.80[ASN][1000 genomes]
rs7862826	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv831653	chr9:94692454-94867542	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv972418	chr9:94865248-94870773	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94817800-94877000	Weak transcription	Fetal Heart	heart
2	chr9:94830800-94873800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:94840600-94872000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr9:94842800-94867600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr9:94842800-94876600	Weak transcription	Colonic Mucosa	Colon
6	chr9:94851400-94876600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:94851800-94867600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr9:94857000-94875400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr9:94858200-94867600	Weak transcription	Brain Angular Gyrus	brain
10	chr9:94858200-94869000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr9:94858200-94873600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr9:94858400-94872200	Weak transcription	K562	blood
13	chr9:94858600-94869400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr9:94858800-94873400	Weak transcription	GM12878-XiMat	blood
15	chr9:94859000-94870000	Weak transcription	HepG2	liver
16	chr9:94859200-94867600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr9:94859600-94872800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr9:94860400-94872000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr9:94860800-94872600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr9:94860800-94873600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:94860800-94876000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:94860800-94876000	Weak transcription	Brain Substantia Nigra	brain
23	chr9:94860800-94877000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr9:94860800-94877200	Weak transcription	Stomach Mucosa	stomach
25	chr9:94861000-94867600	Weak transcription	Fetal Thymus	thymus
26	chr9:94861000-94870600	Weak transcription	Primary B cells from cord blood	blood
27	chr9:94861000-94875000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr9:94861000-94876800	Weak transcription	Fetal Kidney	kidney
29	chr9:94861200-94868800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr9:94861200-94876000	Weak transcription	Brain Hippocampus Middle	brain
31	chr9:94861400-94873000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr9:94861400-94875600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr9:94861600-94875800	Weak transcription	Fetal Brain Male	brain
34	chr9:94861600-94877000	Weak transcription	Small Intestine	intestine
35	chr9:94863000-94870200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr9:94863000-94873400	Weak transcription	NHLF	lung
37	chr9:94863000-94876800	Weak transcription	HSMMtube	muscle
38	chr9:94863200-94868800	Weak transcription	Dnd41	blood
39	chr9:94863200-94870000	Weak transcription	NH-A	brain
40	chr9:94863200-94873600	Weak transcription	Psoas Muscle	Psoas
41	chr9:94863200-94876800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr9:94863400-94869400	Weak transcription	Osteobl	bone
43	chr9:94863400-94869800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr9:94863400-94870000	Weak transcription	HMEC	breast
45	chr9:94863400-94872200	Weak transcription	NHDF-Ad	bronchial
46	chr9:94863400-94872600	Weak transcription	HUVEC	blood vessel
47	chr9:94863400-94873000	Weak transcription	HSMM	muscle
48	chr9:94863400-94873200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr9:94863600-94875800	Weak transcription	NHEK	skin
50	chr9:94864000-94875200	Strong transcription	Primary T cells fromperipheralblood	blood

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