Variant report

Variant	rs11063205
Chromosome Location	chr12:4597745-4597746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1029769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10444478	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs10849083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849085	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849087	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[ASN][1000 genomes]
rs10849089	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849090	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849091	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs11063177	0.84[EUR][1000 genomes]
rs11063179	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11063181	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11063182	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11063187	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063188	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063189	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11063191	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11063193	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063194	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063195	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063196	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063197	1.00[ASN][1000 genomes]
rs11063198	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11063199	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063206	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063213	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063214	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063217	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063220	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs11063227	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs11063228	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs11063230	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs12314323	0.91[ASN][1000 genomes]
rs12366731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12367035	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2907492	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs2907494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2907495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2907498	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2907499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2909380	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2909381	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970810	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970812	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970818	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4238020	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4323977	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60388479	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61909580	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71459910	0.81[ASN][1000 genomes]
rs73037770	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308641	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[ASN][1000 genomes]
rs7314915	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs7965755	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[ASN][1000 genomes]
rs7972086	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs9971700	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9971728	1.00[GIH][hapmap];0.89[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11063205	AKAP3	cis	cerebellum	SCAN
rs11063205	SCARNA10	cis	parietal	SCAN
rs11063205	DYRK4	cis	cerebellum	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4590800-4631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:4592400-4647200	Weak transcription	Esophagus	oesophagus
3	chr12:4592600-4607800	Weak transcription	Aorta	Aorta
4	chr12:4593400-4628600	Weak transcription	Right Ventricle	heart
5	chr12:4594400-4598000	Weak transcription	Fetal Brain Female	brain
6	chr12:4594400-4598800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:4594400-4615400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:4594400-4646400	Weak transcription	NHLF	lung
9	chr12:4594600-4598000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:4594800-4597800	Weak transcription	Fetal Lung	lung
11	chr12:4594800-4597800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr12:4594800-4598000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:4594800-4606000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:4594800-4607800	Weak transcription	HMEC	breast
15	chr12:4594800-4612200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:4594800-4625400	Weak transcription	Psoas Muscle	Psoas
17	chr12:4594800-4647000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:4595000-4607800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:4595200-4598800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:4595400-4598200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr12:4595400-4628600	Weak transcription	A549	lung
22	chr12:4595600-4599400	Weak transcription	NHDF-Ad	bronchial
23	chr12:4595600-4600400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:4595800-4597800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:4596000-4598400	Enhancers	Fetal Brain Male	brain
26	chr12:4596000-4599000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr12:4596000-4607800	Weak transcription	Pancreas	Pancrea
28	chr12:4596000-4647200	Weak transcription	Small Intestine	intestine
29	chr12:4596200-4597800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr12:4596200-4598000	Weak transcription	NH-A	brain
31	chr12:4596200-4599800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:4596200-4600000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:4596200-4600400	Strong transcription	Left Ventricle	heart
34	chr12:4596200-4600400	Strong transcription	HSMM	muscle
35	chr12:4596200-4602600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:4596200-4613400	Strong transcription	Primary B cells from cord blood	blood
37	chr12:4596200-4613400	Weak transcription	Colon Smooth Muscle	Colon
38	chr12:4596200-4614000	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr12:4596200-4615400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:4596400-4597800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:4596400-4598000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr12:4596400-4598000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr12:4596400-4598200	Strong transcription	Spleen	Spleen
44	chr12:4596400-4600200	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:4596400-4601200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:4596400-4615200	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr12:4596400-4629000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr12:4596600-4598000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:4596600-4598000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr12:4596600-4598800	Weak transcription	HSMMtube	muscle

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