Variant report

Variant	rs10876045
Chromosome Location	chr12:50909254-50909255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50906998..50909995-chr12:50910292..50911988,2	MCF-7	breast:
2	chr12:50897433..50902148-chr12:50902725..50909458,9	K562	blood:
3	chr12:50902319..50904696-chr12:50908073..50909903,2	K562	blood:
4	chr12:50906945..50910270-chr12:50912083..50914978,3	K562	blood:
5	chr12:50908242..50910882-chr12:50918604..50920319,3	K562	blood:
6	chr12:50897194..50899099-chr12:50907251..50909295,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066084	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10747583	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10783375	0.92[ASN][1000 genomes]
rs10876055	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876059	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876066	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10876069	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10876074	0.86[AMR][1000 genomes]
rs11169453	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169470	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169484	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169486	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169490	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169492	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169506	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11169523	0.88[AMR][1000 genomes]
rs11169524	0.89[AMR][1000 genomes]
rs12307178	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12372538	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12425362	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12427378	0.89[AMR][1000 genomes]
rs12582683	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12814717	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12818741	0.86[AMR][1000 genomes]
rs12825915	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1316442	0.84[AMR][1000 genomes]
rs1316607	0.86[AMR][1000 genomes]
rs13378012	0.85[AMR][1000 genomes]
rs1967576	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2090852	0.89[AMR][1000 genomes]
rs2139930	0.89[AMR][1000 genomes]
rs2280503	0.81[AMR][1000 genomes]
rs34553264	0.89[AMR][1000 genomes]
rs34682944	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3742062	0.85[AMR][1000 genomes]
rs3935138	0.96[ASN][1000 genomes]
rs3935870	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4617661	0.96[ASN][1000 genomes]
rs4768847	0.96[ASN][1000 genomes]
rs61699126	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61926278	0.84[AMR][1000 genomes]
rs6580756	0.96[ASN][1000 genomes]
rs67092086	0.96[ASN][1000 genomes]
rs7133160	0.86[AMR][1000 genomes]
rs7133687	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7137845	0.87[AMR][1000 genomes]
rs7298661	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7298665	0.86[AMR][1000 genomes]
rs7302435	0.86[AMR][1000 genomes]
rs7305375	0.82[ASN][1000 genomes]
rs7316864	0.96[ASN][1000 genomes]
rs7397999	0.96[ASN][1000 genomes]
rs7487429	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7965652	0.86[AMR][1000 genomes]
rs9788075	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS 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	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10876045	DIP2B	Cis_1M	lymphoblastoid	RTeQTL
rs10876045	ATF1	cis	Artery Tibial	GTEx
rs10876045	CERS5	cis	Nerve Tibial	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50900000-50911000	Weak transcription	Colonic Mucosa	Colon
2	chr12:50900000-50911800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:50900000-50925400	Weak transcription	Esophagus	oesophagus
4	chr12:50900200-50911200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:50900400-50910000	Weak transcription	Fetal Stomach	stomach
6	chr12:50900600-50916400	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:50900600-50932000	Weak transcription	Fetal Kidney	kidney
8	chr12:50900800-50911200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:50901000-50910800	Weak transcription	HUVEC	blood vessel
10	chr12:50901000-50911000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:50901400-50925600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:50901600-50915600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:50901800-50911000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:50902200-50911200	Weak transcription	Dnd41	blood
15	chr12:50902400-50911000	Weak transcription	Fetal Lung	lung
16	chr12:50902600-50911200	Weak transcription	Fetal Brain Male	brain
17	chr12:50902800-50912000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr12:50903200-50911200	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:50903400-50910200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:50903400-50925800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:50903600-50909400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:50903600-50911200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:50903600-50911400	Weak transcription	Psoas Muscle	Psoas
24	chr12:50903600-50922800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:50903800-50911000	Weak transcription	Fetal Brain Female	brain
26	chr12:50904200-50911000	Weak transcription	Hela-S3	cervix
27	chr12:50904200-50911200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:50904400-50911000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:50904400-50911000	Weak transcription	Brain Germinal Matrix	brain
30	chr12:50904400-50911000	Weak transcription	HSMMtube	muscle
31	chr12:50904400-50911200	Weak transcription	A549	lung
32	chr12:50904400-50911400	Weak transcription	Fetal Intestine Small	intestine
33	chr12:50905000-50909800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:50906000-50910600	Enhancers	Brain Substantia Nigra	brain
35	chr12:50906200-50910600	Enhancers	Brain Hippocampus Middle	brain
36	chr12:50906400-50911200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:50906400-50915600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr12:50906400-50916400	Enhancers	Primary T cells fromperipheralblood	blood
39	chr12:50906800-50910200	Enhancers	Fetal Heart	heart
40	chr12:50906800-50911200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:50907000-50909600	Enhancers	Brain Cingulate Gyrus	brain
42	chr12:50907000-50910400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:50907000-50910400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:50907000-50911800	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr12:50907200-50911200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:50907200-50911600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:50907200-50915200	Enhancers	HepG2	liver
48	chr12:50907400-50911200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:50907400-50911200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr12:50907400-50911400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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