Variant report

Variant	rs10876043
Chromosome Location	chr12:50904144-50904145
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50900950..50904807-chr12:50918762..50923043,5	MCF-7	breast:
2	chr12:50897433..50902148-chr12:50902725..50909458,9	K562	blood:
3	chr12:50897433..50901052-chr12:50902725..50905248,4	K562	blood:
4	chr12:50902319..50904696-chr12:50908073..50909903,2	K562	blood:

Variant related genes	Relation type
ENSG00000066084	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10431486	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10431535	0.85[EUR][1000 genomes]
rs10444547	0.88[EUR][1000 genomes]
rs10459233	0.94[EUR][1000 genomes]
rs10459235	0.83[EUR][1000 genomes]
rs10506294	0.83[EUR][1000 genomes]
rs10506295	0.82[EUR][1000 genomes]
rs10747584	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10747585	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10747587	0.83[EUR][1000 genomes]
rs10783369	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10783370	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10783371	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10783372	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10783373	0.83[CHD][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10783374	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10783375	0.84[EUR][1000 genomes]
rs10783378	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10783381	0.89[EUR][1000 genomes]
rs10783382	0.84[EUR][1000 genomes]
rs10783383	0.83[EUR][1000 genomes]
rs10783384	0.82[EUR][1000 genomes]
rs10876042	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876047	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876051	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10876052	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10876053	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10876056	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10876058	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876060	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10876061	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10876063	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10876064	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10876065	0.83[CHD][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10876070	0.83[CHD][hapmap];0.89[EUR][1000 genomes]
rs10876071	0.89[EUR][1000 genomes]
rs10876072	0.89[EUR][1000 genomes]
rs10876073	0.88[EUR][1000 genomes]
rs10876075	0.87[EUR][1000 genomes]
rs10876076	0.87[EUR][1000 genomes]
rs11169457	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169479	0.88[CHD][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169480	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169481	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169483	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169487	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169493	0.83[CHD][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169498	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11169505	0.89[EUR][1000 genomes]
rs11169507	0.89[EUR][1000 genomes]
rs11169515	0.84[EUR][1000 genomes]
rs11169528	0.83[EUR][1000 genomes]
rs11169532	0.82[EUR][1000 genomes]
rs11169537	0.82[EUR][1000 genomes]
rs11613488	0.81[CHD][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11615933	0.83[EUR][1000 genomes]
rs12230242	0.88[EUR][1000 genomes]
rs12231309	0.86[EUR][1000 genomes]
rs12231317	0.87[EUR][1000 genomes]
rs12580051	0.87[EUR][1000 genomes]
rs12582712	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12809086	0.83[EUR][1000 genomes]
rs12827022	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17124930	0.82[EUR][1000 genomes]
rs34867510	0.93[EUR][1000 genomes]
rs3893353	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3935138	0.84[EUR][1000 genomes]
rs3935869	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4131769	0.83[CHD][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4238106	0.89[EUR][1000 genomes]
rs4238108	0.83[EUR][1000 genomes]
rs4516034	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4617661	0.83[EUR][1000 genomes]
rs4768847	0.84[EUR][1000 genomes]
rs4768850	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4768852	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4768853	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4768858	0.87[EUR][1000 genomes]
rs4768884	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768888	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4768889	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768890	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4768892	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4768893	0.97[EUR][1000 genomes]
rs4768895	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4768899	0.89[EUR][1000 genomes]
rs4768906	0.82[EUR][1000 genomes]
rs4768907	0.82[EUR][1000 genomes]
rs4768912	0.81[EUR][1000 genomes]
rs4768913	0.81[EUR][1000 genomes]
rs55680342	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55877451	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61926275	0.83[EUR][1000 genomes]
rs6580756	0.84[EUR][1000 genomes]
rs67092086	0.84[EUR][1000 genomes]
rs7134976	0.89[EUR][1000 genomes]
rs7138604	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7307419	0.89[EUR][1000 genomes]
rs7316864	0.84[EUR][1000 genomes]
rs7397999	0.84[EUR][1000 genomes]
rs7956591	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs876078	0.87[EUR][1000 genomes]
rs876079	0.87[EUR][1000 genomes]
rs952318	0.88[EUR][1000 genomes]
rs9788159	0.87[EUR][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

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

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	chr12:50900200-50904400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:50900200-50904400	Weak transcription	Aorta	Aorta
6	chr12:50900200-50906800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:50900200-50911200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:50900400-50910000	Weak transcription	Fetal Stomach	stomach
9	chr12:50900600-50904600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:50900600-50916400	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:50900600-50932000	Weak transcription	Fetal Kidney	kidney
12	chr12:50900800-50908600	Weak transcription	Right Ventricle	heart
13	chr12:50900800-50911200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:50901000-50904200	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr12:50901000-50904600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr12:50901000-50907000	Weak transcription	Ovary	ovary
17	chr12:50901000-50910800	Weak transcription	HUVEC	blood vessel
18	chr12:50901000-50911000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:50901200-50904400	Enhancers	Fetal Heart	heart
20	chr12:50901200-50904400	Flanking Active TSS	GM12878-XiMat	blood
21	chr12:50901200-50904600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:50901200-50905000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:50901200-50905400	Enhancers	Primary T cells fromperipheralblood	blood
24	chr12:50901400-50904400	Enhancers	Brain Germinal Matrix	brain
25	chr12:50901400-50925600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:50901600-50915600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:50901800-50904200	Enhancers	Fetal Intestine Large	intestine
28	chr12:50901800-50904400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:50901800-50905400	Enhancers	Liver	Liver
30	chr12:50901800-50911000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:50902000-50905000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:50902000-50905000	Enhancers	Brain Substantia Nigra	brain
33	chr12:50902000-50909200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:50902200-50904400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr12:50902200-50904400	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr12:50902200-50911200	Weak transcription	Dnd41	blood
37	chr12:50902400-50911000	Weak transcription	Fetal Lung	lung
38	chr12:50902600-50904200	Enhancers	Duodenum Mucosa	Duodenum
39	chr12:50902600-50911200	Weak transcription	Fetal Brain Male	brain
40	chr12:50902800-50907400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:50902800-50908000	Weak transcription	Lung	lung
42	chr12:50902800-50912000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr12:50903000-50904200	Enhancers	Brain Cingulate Gyrus	brain
44	chr12:50903000-50904400	Enhancers	Fetal Intestine Small	intestine
45	chr12:50903200-50904200	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr12:50903200-50904200	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr12:50903200-50904400	Enhancers	HSMMtube	muscle
48	chr12:50903200-50905000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr12:50903200-50905000	Enhancers	HepG2	liver
50	chr12:50903200-50906400	Weak transcription	Pancreas	Pancrea

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