Variant report

Variant	rs12321891
Chromosome Location	chr12:51000382-51000383
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10083076	1.00[EUR][1000 genomes]
rs10431531	1.00[EUR][1000 genomes]
rs10431532	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10431533	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10732734	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10747582	1.00[EUR][1000 genomes]
rs10783360	1.00[EUR][1000 genomes]
rs10876029	1.00[EUR][1000 genomes]
rs10876040	0.94[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10876079	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs1096028	1.00[EUR][1000 genomes]
rs1096029	1.00[EUR][1000 genomes]
rs11169464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11169472	0.90[AMR][1000 genomes]
rs12146806	0.86[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12300290	1.00[EUR][1000 genomes]
rs12302810	0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302812	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12322925	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.95[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]
rs1595597	1.00[EUR][1000 genomes]
rs1642998	1.00[EUR][1000 genomes]
rs1879622	1.00[EUR][1000 genomes]
rs1975351	1.00[MEX][hapmap];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	0.80[LWK][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2468378	0.83[LWK][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2554869	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	0.83[LWK][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684904	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684905	1.00[MEX][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684907	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2684909	1.00[MEX][hapmap];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	1.00[MEX][hapmap];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[MEX][hapmap];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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4334109	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]
rs4768896	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768897	0.88[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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6580759	0.80[LWK][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6580762	1.00[EUR][1000 genomes]
rs7133107	1.00[EUR][1000 genomes]
rs7302222	1.00[EUR][1000 genomes]
rs7305972	1.00[EUR][1000 genomes]
rs7309410	1.00[EUR][1000 genomes]
rs7309896	1.00[EUR][1000 genomes]
rs7310522	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]
rs7966009	1.00[EUR][1000 genomes]
rs7976281	1.00[MEX][hapmap]
rs829116	1.00[EUR][1000 genomes]
rs829117	1.00[EUR][1000 genomes]
rs829118	1.00[EUR][1000 genomes]
rs829119	1.00[EUR][1000 genomes]
rs829121	1.00[EUR][1000 genomes]
rs829137	1.00[EUR][1000 genomes]
rs829138	1.00[EUR][1000 genomes]
rs939632	1.00[EUR][1000 genomes]
rs939634	1.00[EUR][1000 genomes]
rs9634263	1.00[YRI][hapmap];0.83[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:5 , 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
2	esv1816169	chr12:50973897-51002088	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv1817171	chr12:50973897-51002088	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1821299	chr12:50973897-51002088	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1822840	chr12:50973897-51015509	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50974000-51011800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:50979200-51013800	Weak transcription	Fetal Stomach	stomach
3	chr12:50991400-51006600	Weak transcription	Esophagus	oesophagus
4	chr12:50991600-51009600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:50991600-51014000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:50991800-51003200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:50991800-51003200	Weak transcription	Small Intestine	intestine
8	chr12:50991800-51006800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:50992000-51006600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:50992200-51005400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:50992400-51000400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:50992400-51001000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:50992400-51004200	Weak transcription	HSMMtube	muscle
14	chr12:50992400-51005400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:50992400-51005600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:50992400-51006600	Weak transcription	Psoas Muscle	Psoas
17	chr12:50992400-51007200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:50992400-51007400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:50992400-51007400	Weak transcription	Dnd41	blood
20	chr12:50992400-51009200	Weak transcription	Fetal Thymus	thymus
21	chr12:50992400-51009600	Weak transcription	Thymus	Thymus
22	chr12:50992400-51015200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:50992800-51006800	Weak transcription	HSMM	muscle
24	chr12:50992800-51007200	Weak transcription	Hela-S3	cervix
25	chr12:50993000-51013800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr12:50993000-51013800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:50993200-51000600	Weak transcription	Right Atrium	heart
28	chr12:50993600-51000600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr12:50993600-51007200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:50993600-51013400	Weak transcription	GM12878-XiMat	blood
31	chr12:50994200-51001000	Weak transcription	Fetal Lung	lung
32	chr12:50994200-51005800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr12:50994400-51000400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr12:50994400-51001200	Weak transcription	A549	lung
35	chr12:50994400-51001400	Weak transcription	Brain Angular Gyrus	brain
36	chr12:50994400-51012400	Weak transcription	Primary T cells from cord blood	blood
37	chr12:50994600-51018600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr12:50995000-51000400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:50995000-51000600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr12:50995000-51000600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:50995200-51005600	Weak transcription	Placenta	Placenta
42	chr12:50996000-51006600	Weak transcription	Primary B cells from cord blood	blood
43	chr12:50997000-51000600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:50997200-51007800	Weak transcription	Fetal Kidney	kidney
45	chr12:50997400-51002000	Weak transcription	Colonic Mucosa	Colon
46	chr12:50997600-51013000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr12:50997600-51014200	Weak transcription	Spleen	Spleen
48	chr12:50998000-51000400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr12:50998000-51000600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:50998000-51000600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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