Variant report

Variant	rs10992783
Chromosome Location	chr9:96311256-96311257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96213389..96215386-chr9:96309872..96311378,2	MCF-7	breast:
2	chr19:10678145..10680116-chr9:96309454..96311712,2	MCF-7	breast:
3	chr9:96310257..96312252-chr9:96337769..96339963,2	MCF-7	breast:
4	chr9:96309589..96311843-chr9:96313849..96315976,2	K562	blood:
5	chr9:96302153..96304744-chr9:96309522..96311338,2	MCF-7	breast:
6	chr9:96308737..96311417-chr9:96314055..96315720,2	MCF-7	breast:
7	chr9:96310704..96312745-chr9:96337176..96339472,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188938	Chromatin interaction
ENSG00000129355	Chromatin interaction
ENSG00000048828	Chromatin interaction
ENSG00000197724	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10512225	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10761226	0.86[AMR][1000 genomes]
rs10761237	0.88[ASN][1000 genomes]
rs10821162	0.93[ASN][1000 genomes]
rs10992788	0.94[ASN][1000 genomes]
rs10992789	0.94[ASN][1000 genomes]
rs7023212	0.94[ASN][1000 genomes]
rs7023577	0.94[ASN][1000 genomes]
rs966789	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041803	chr9:96299639-96342013	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv824984	chr9:96310933-96375022	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10992783	FAM120AOS	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96278400-96327000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr9:96278400-96327200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr9:96278400-96328200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr9:96279000-96327400	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr9:96282200-96323400	Strong transcription	Primary B cells from cord blood	blood
6	chr9:96284600-96327200	Strong transcription	Primary T helper cells PMA-I stimulated	--
7	chr9:96284600-96328200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:96284800-96327200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:96285000-96327000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:96285000-96327000	Strong transcription	Dnd41	blood
11	chr9:96285200-96327800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:96285400-96327800	Strong transcription	Liver	Liver
13	chr9:96289200-96316000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr9:96291800-96317000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr9:96291800-96317000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:96292000-96316600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr9:96295800-96315600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr9:96298800-96311600	Weak transcription	Stomach Mucosa	stomach
19	chr9:96299200-96326800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:96299400-96324200	Weak transcription	Fetal Brain Male	brain
21	chr9:96299400-96327800	Strong transcription	Placenta	Placenta
22	chr9:96300400-96322400	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr9:96300600-96313200	Strong transcription	Primary T cells from cord blood	blood
24	chr9:96301200-96327200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr9:96302000-96328000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:96302600-96315800	Strong transcription	Fetal Lung	lung
27	chr9:96304400-96328200	Strong transcription	Adipose Nuclei	Adipose
28	chr9:96304600-96315600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr9:96305200-96311400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr9:96305200-96311400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr9:96305200-96326800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr9:96305200-96327000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr9:96305400-96327000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:96305400-96327200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:96305400-96327600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr9:96305600-96315400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr9:96305800-96312000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr9:96305800-96314200	Weak transcription	Psoas Muscle	Psoas
39	chr9:96305800-96317000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr9:96305800-96319800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr9:96307000-96312200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr9:96307200-96311800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr9:96307600-96311800	Weak transcription	Small Intestine	intestine
44	chr9:96307600-96329000	Weak transcription	Right Atrium	heart
45	chr9:96307800-96311600	Weak transcription	Fetal Kidney	kidney
46	chr9:96307800-96312000	Weak transcription	HUVEC	blood vessel
47	chr9:96308200-96312000	Strong transcription	Osteobl	bone
48	chr9:96308800-96324200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr9:96309000-96312000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr9:96309000-96312200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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