Variant report

Variant	rs12302812
Chromosome Location	chr12:50967212-50967213
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50897439..50899483-chr12:50966569..50968564,3	MCF-7	breast:
2	chr12:50965666..50967563-chr12:50973040..50975436,2	K562	blood:

Variant related genes	Relation type
ENSG00000066084	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10083076	1.00[EUR][1000 genomes]
rs10431531	1.00[EUR][1000 genomes]
rs10431532	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10431533	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10732734	0.89[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	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10876079	1.00[EUR][1000 genomes]
rs11169464	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12146806	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12300290	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12302810	0.89[AMR][1000 genomes]
rs12307085	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12321891	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12322925	0.89[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	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2253376	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2359188	1.00[EUR][1000 genomes]
rs2464125	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2468378	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684895	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684896	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684897	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684904	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684905	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684907	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684909	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700477	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700481	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700483	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731437	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731438	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731445	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731446	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731447	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2731448	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4238103	1.00[EUR][1000 genomes]
rs4259895	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4293196	0.89[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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768897	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768898	0.89[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	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6580759	0.97[AFR][1000 genomes];1.00[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	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7310686	1.00[EUR][1000 genomes]
rs7312349	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7313783	0.87[AMR][1000 genomes];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]
rs7976281	0.87[AMR][1000 genomes]
rs939632	1.00[EUR][1000 genomes]
rs939634	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9634263	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9804978	0.89[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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50949400-50973600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:50957600-50969200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:50959000-50976800	Weak transcription	Primary T cells from cord blood	blood
4	chr12:50959800-50969800	Enhancers	Liver	Liver
5	chr12:50961600-50969400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:50961800-50969600	Enhancers	Adipose Nuclei	Adipose
7	chr12:50961800-50971200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:50962000-50968400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:50962200-50968200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:50962200-50968200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:50962200-50968200	Weak transcription	Esophagus	oesophagus
12	chr12:50962200-50969200	Weak transcription	Lung	lung
13	chr12:50962400-50968200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:50962400-50973600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:50962400-50983200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:50963400-50968000	Weak transcription	Small Intestine	intestine
17	chr12:50963400-50968200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:50963400-50968200	Enhancers	Brain Cingulate Gyrus	brain
19	chr12:50963400-50969200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:50964000-50968200	Weak transcription	NH-A	brain
21	chr12:50964200-50970400	Enhancers	Placenta	Placenta
22	chr12:50965200-50968200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:50965400-50968400	Enhancers	Fetal Lung	lung
24	chr12:50965600-50967400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:50965600-50967400	Enhancers	Primary B cells from peripheral blood	blood
26	chr12:50965600-50967400	Enhancers	NHLF	lung
27	chr12:50965600-50967400	Enhancers	Osteobl	bone
28	chr12:50965600-50967600	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr12:50965600-50967600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:50965600-50967600	Enhancers	Psoas Muscle	Psoas
31	chr12:50965600-50967800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:50965600-50967800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:50965600-50968600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr12:50965600-50969200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr12:50965600-50969400	Enhancers	HMEC	breast
36	chr12:50965600-50969600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:50965600-50969600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:50965600-50969600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr12:50965600-50969600	Enhancers	Brain Hippocampus Middle	brain
40	chr12:50965600-50969600	Enhancers	GM12878-XiMat	blood
41	chr12:50965600-50969600	Enhancers	NHEK	skin
42	chr12:50965600-50969800	Enhancers	Colon Smooth Muscle	Colon
43	chr12:50965600-50969800	Enhancers	Fetal Muscle Leg	muscle
44	chr12:50965600-50970000	Enhancers	HepG2	liver
45	chr12:50965800-50968200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr12:50965800-50968200	Enhancers	Brain Angular Gyrus	brain
47	chr12:50965800-50968200	Enhancers	Brain Anterior Caudate	brain
48	chr12:50965800-50968400	Enhancers	Brain Substantia Nigra	brain
49	chr12:50965800-50969000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr12:50965800-50969000	Weak transcription	Fetal Muscle Trunk	muscle

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