Variant report

Variant	rs4293196
Chromosome Location	chr12:50900508-50900509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50899429..50901096-chr12:50905405..50907049,2	MCF-7	breast:
2	chr12:50899387..50901154-chr12:50914806..50917491,2	K562	blood:
3	chr12:50898995..50900548-chr12:50993141..50995760,2	MCF-7	breast:
4	chr12:50897453..50902823-chr12:51156009..51160960,8	MCF-7	breast:
5	chr12:50899485..50901952-chr12:50925003..50926748,2	MCF-7	breast:
6	chr12:50899807..50901324-chr12:50901368..50903053,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10083076	1.00[EUR][1000 genomes]
rs10431531	1.00[EUR][1000 genomes]
rs10431532	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10431533	0.88[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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10876079	1.00[EUR][1000 genomes]
rs11169464	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11169472	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12146806	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12300290	1.00[EUR][1000 genomes]
rs12302810	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302812	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321891	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12322925	0.83[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]
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]
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	0.85[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]
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	0.96[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	0.94[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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9804978	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50898200-50900800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr12:50898200-50900800	Active TSS	HMEC	breast
3	chr12:50898200-50902200	Active TSS	Brain Angular Gyrus	brain
4	chr12:50898400-50900600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:50898400-50900600	Active TSS	Fetal Brain Female	brain
6	chr12:50898400-50900600	Active TSS	NHLF	lung
7	chr12:50898400-50900800	Active TSS	Right Ventricle	heart
8	chr12:50898400-50900800	Active TSS	GM12878-XiMat	blood
9	chr12:50898400-50900800	Active TSS	HSMMtube	muscle
10	chr12:50898400-50901000	Active TSS	Brain Substantia Nigra	brain
11	chr12:50898400-50901000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr12:50898400-50901000	Active TSS	Ovary	ovary
13	chr12:50898400-50901200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:50898400-50901200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:50898400-50901200	Active TSS	Psoas Muscle	Psoas
16	chr12:50898600-50900600	Active TSS	NHEK	skin
17	chr12:50898600-50900800	Active TSS	Fetal Muscle Leg	muscle
18	chr12:50898600-50901000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:50898600-50901200	Active TSS	Brain Cingulate Gyrus	brain
20	chr12:50899000-50901200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:50899200-50901000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:50899200-50901000	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr12:50899400-50900600	Flanking Active TSS	HUVEC	blood vessel
24	chr12:50899400-50900800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr12:50899400-50900800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr12:50899400-50900800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:50899400-50900800	Flanking Active TSS	Hela-S3	cervix
28	chr12:50899400-50901000	Active TSS	Right Atrium	heart
29	chr12:50899400-50901200	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr12:50899400-50901200	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr12:50899400-50901200	Flanking Active TSS	Dnd41	blood
32	chr12:50899400-50901400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr12:50899600-50900600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr12:50899600-50900600	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr12:50899600-50900600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:50899600-50900800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr12:50899600-50900800	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr12:50899600-50901200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:50899600-50901200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr12:50899600-50901400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:50899600-50901400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:50899600-50901400	Weak transcription	Spleen	Spleen
43	chr12:50899600-50903400	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr12:50899600-50903400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr12:50899800-50900800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:50899800-50900800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr12:50899800-50900800	Enhancers	Placenta Amnion	Placenta Amnion
48	chr12:50899800-50900800	Flanking Active TSS	Osteobl	bone
49	chr12:50899800-50901000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr12:50899800-50901000	Active TSS	Stomach Smooth Muscle	stomach

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