Variant report

Variant	rs10431533
Chromosome Location	chr12:50940940-50940941
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50938363..50942077-chr12:50942741..50946423,3	MCF-7	breast:

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10083076	1.00[EUR][1000 genomes]
rs10431531	1.00[EUR][1000 genomes]
rs10431532	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10732734	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10747576	1.00[EUR][1000 genomes]
rs10747582	1.00[EUR][1000 genomes]
rs10783355	1.00[EUR][1000 genomes]
rs10783360	1.00[EUR][1000 genomes]
rs10876029	1.00[EUR][1000 genomes]
rs10876040	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10876079	1.00[EUR][1000 genomes]
rs11169464	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11169472	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12146806	0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12300290	1.00[EUR][1000 genomes]
rs12302810	0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302812	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321891	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12322925	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12367373	1.00[EUR][1000 genomes]
rs1464436	1.00[EUR][1000 genomes]
rs1879622	1.00[EUR][1000 genomes]
rs1975351	1.00[EUR][1000 genomes]
rs2037453	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2253376	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2359188	1.00[EUR][1000 genomes]
rs2464125	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2468378	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684895	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684896	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684897	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684904	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684905	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684907	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684909	1.00[EUR][1000 genomes]
rs2700476	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700477	1.00[EUR][1000 genomes]
rs2700481	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700483	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731437	1.00[EUR][1000 genomes]
rs2731438	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731441	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731444	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731445	1.00[EUR][1000 genomes]
rs2731446	1.00[EUR][1000 genomes]
rs2731447	1.00[EUR][1000 genomes]
rs2731448	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4238103	1.00[EUR][1000 genomes]
rs4259895	1.00[EUR][1000 genomes]
rs4293196	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4334109	1.00[EUR][1000 genomes]
rs4435082	1.00[EUR][1000 genomes]
rs4477515	1.00[EUR][1000 genomes]
rs4491331	1.00[EUR][1000 genomes]
rs4590959	1.00[EUR][1000 genomes]
rs4617660	1.00[EUR][1000 genomes]
rs4625558	1.00[EUR][1000 genomes]
rs4768854	1.00[EUR][1000 genomes]
rs4768896	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768897	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768898	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768908	1.00[EUR][1000 genomes]
rs4768910	1.00[EUR][1000 genomes]
rs4768916	1.00[EUR][1000 genomes]
rs4768919	1.00[EUR][1000 genomes]
rs6421169	1.00[EUR][1000 genomes]
rs6580746	1.00[EUR][1000 genomes]
rs6580749	1.00[EUR][1000 genomes]
rs6580750	1.00[EUR][1000 genomes]
rs6580758	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6580759	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6580762	1.00[EUR][1000 genomes]
rs7133107	1.00[EUR][1000 genomes]
rs7296277	1.00[EUR][1000 genomes]
rs7302222	1.00[EUR][1000 genomes]
rs7304951	1.00[EUR][1000 genomes]
rs7305972	1.00[EUR][1000 genomes]
rs7309410	1.00[EUR][1000 genomes]
rs7309896	1.00[EUR][1000 genomes]
rs7310522	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7310686	1.00[EUR][1000 genomes]
rs7312349	1.00[EUR][1000 genomes]
rs7313783	1.00[EUR][1000 genomes]
rs7314198	1.00[EUR][1000 genomes]
rs7954152	1.00[EUR][1000 genomes]
rs7963866	1.00[EUR][1000 genomes]
rs7964439	1.00[EUR][1000 genomes]
rs7966009	1.00[EUR][1000 genomes]
rs939632	1.00[EUR][1000 genomes]
rs939634	1.00[EUR][1000 genomes]
rs9634263	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9804978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9943796	1.00[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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50920800-50962400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:50927200-50957600	Weak transcription	Fetal Lung	lung
3	chr12:50927400-50944400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:50927400-50948800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:50927400-50951000	Weak transcription	Dnd41	blood
6	chr12:50927400-50961800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:50927600-50941600	Weak transcription	Pancreas	Pancrea
8	chr12:50927600-50950000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:50927600-50957200	Weak transcription	Spleen	Spleen
10	chr12:50927800-50947600	Weak transcription	Fetal Thymus	thymus
11	chr12:50927800-50961800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:50929200-50943800	Weak transcription	Placenta	Placenta
13	chr12:50930600-50948600	Weak transcription	Left Ventricle	heart
14	chr12:50932000-50945200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:50932000-50957800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:50932000-50958000	Weak transcription	Adipose Nuclei	Adipose
17	chr12:50932200-50948400	Weak transcription	Primary T cells from cord blood	blood
18	chr12:50932200-50948600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:50932200-50961800	Weak transcription	Right Ventricle	heart
20	chr12:50932400-50941600	Weak transcription	Colonic Mucosa	Colon
21	chr12:50932400-50944400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:50932400-50949000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:50932800-50947600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr12:50932800-50948200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:50933000-50952400	Weak transcription	Primary B cells from cord blood	blood
26	chr12:50935800-50944600	Weak transcription	Esophagus	oesophagus
27	chr12:50935800-50948400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr12:50936800-50962000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr12:50937000-50945400	Weak transcription	GM12878-XiMat	blood
30	chr12:50937800-50944000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:50938000-50951200	Weak transcription	Fetal Stomach	stomach
32	chr12:50938400-50943200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:50938600-50941000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:50938600-50942000	Enhancers	Duodenum Mucosa	Duodenum
35	chr12:50938800-50941000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr12:50938800-50941000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:50938800-50941000	Enhancers	Hela-S3	cervix
38	chr12:50938800-50941000	Enhancers	HSMMtube	muscle
39	chr12:50938800-50942600	Enhancers	HepG2	liver
40	chr12:50938800-50945600	Enhancers	Liver	Liver
41	chr12:50939000-50941000	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr12:50939000-50944200	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr12:50939200-50941000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr12:50939200-50941000	Enhancers	HSMM	muscle
45	chr12:50939200-50943200	Enhancers	Stomach Mucosa	stomach
46	chr12:50939200-50944800	Enhancers	Fetal Intestine Small	intestine
47	chr12:50939400-50941000	Enhancers	NH-A	brain
48	chr12:50939400-50941000	Enhancers	Osteobl	bone
49	chr12:50939400-50941600	Enhancers	Brain Substantia Nigra	brain
50	chr12:50939600-50941200	Enhancers	Brain Hippocampus Middle	brain

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