Variant report

Variant	rs11047837
Chromosome Location	chr12:25261165-25261166
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10743538	0.81[ASN][1000 genomes]
rs10842462	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs11047821	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs11047826	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11047842	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11047845	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11047857	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11531007	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12228408	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12229161	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12229450	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12423047	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12423778	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12426684	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12427119	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12427150	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs17387444	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2291364	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3782188	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4441109	0.87[ASN][1000 genomes]
rs4963852	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4963853	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56024196	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73069103	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73069105	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73071272	0.82[EUR][1000 genomes]
rs73077316	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73077322	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73079611	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73079683	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73081704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7969931	0.84[ASN][1000 genomes]
rs7973851	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469169	chr12:24692383-25357680	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv557775	chr12:24692383-25357680	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv932477	chr12:24705151-25346677	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1067577	chr12:24791283-25346677	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv529514	chr12:24791283-25346677	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv1041218	chr12:24972019-25304356	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25209400-25264400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:25210000-25262800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr12:25215000-25265000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:25230000-25264600	Strong transcription	Fetal Thymus	thymus
5	chr12:25232200-25263600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:25238600-25263000	Weak transcription	Left Ventricle	heart
7	chr12:25238600-25265200	Weak transcription	Lung	lung
8	chr12:25242800-25262200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:25246400-25264000	Weak transcription	Ovary	ovary
10	chr12:25248400-25262800	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr12:25248600-25264400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:25249200-25261800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:25251800-25274600	Weak transcription	Pancreas	Pancrea
14	chr12:25252200-25264000	Weak transcription	Spleen	Spleen
15	chr12:25253200-25262800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:25254200-25263600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:25254200-25263800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr12:25254200-25263800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:25255800-25261400	Weak transcription	Small Intestine	intestine
20	chr12:25255800-25262400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:25256000-25265200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr12:25256800-25262600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr12:25257000-25264800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:25257400-25264800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr12:25258600-25262200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:25259000-25263200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:25259800-25262200	Strong transcription	Dnd41	blood
28	chr12:25259800-25263800	Strong transcription	Primary hematopoietic stem cells	blood
29	chr12:25259800-25264400	Strong transcription	Primary B cells from cord blood	blood
30	chr12:25260000-25262200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr12:25260000-25262600	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:25260000-25263200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr12:25260000-25263600	Strong transcription	Primary T cells from cord blood	blood
34	chr12:25260000-25263600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:25260200-25263600	Strong transcription	Thymus	Thymus
36	chr12:25260400-25261200	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr12:25260400-25262400	Strong transcription	Adipose Nuclei	Adipose
38	chr12:25260600-25261200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr12:25260800-25263600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:25261000-25262000	Genic enhancers	GM12878-XiMat	blood
41	chr12:25261000-25263400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:25261000-25263800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr12:25261000-25264000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr12:25261000-25265000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:25261000-25268400	Weak transcription	Liver	Liver

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