Variant report

Variant	rs11068264
Chromosome Location	chr12:117396097-117396098
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117395564..117397390-chr12:117400429..117403185,2	K562	blood:
2	chr12:117394664..117397390-chr12:117400472..117403185,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10507277	1.00[CEU][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10507278	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs10732611	0.87[CEU][hapmap];0.86[JPT][hapmap]
rs10735099	1.00[CEU][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10735102	0.93[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10735103	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10744885	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10744886	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10774891	0.86[CEU][hapmap];0.85[JPT][hapmap]
rs10774892	0.86[JPT][hapmap]
rs10774895	1.00[YRI][hapmap]
rs10774896	0.87[CEU][hapmap];0.86[JPT][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs10774898	0.86[ASW][hapmap]
rs10850731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10850737	0.80[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10850743	1.00[CEU][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10850744	0.93[CEU][hapmap]
rs11068277	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11068296	0.86[ASW][hapmap];1.00[CEU][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11609970	0.85[AMR][1000 genomes]
rs12821492	0.81[EUR][1000 genomes]
rs12823620	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16947281	0.89[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs2242469	1.00[CEU][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2270794	0.81[CEU][hapmap]
rs2291916	0.86[ASW][hapmap]
rs2393111	0.94[CEU][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3893370	0.94[CEU][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4074147	0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4076700	0.94[CEU][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4077519	0.86[JPT][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4130296	0.87[CEU][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap]
rs4522274	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs4542506	0.87[ASW][hapmap];0.94[CEU][hapmap];0.85[JPT][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4562925	0.87[CEU][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap]
rs4562926	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4562927	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4766812	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4766814	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4766815	0.93[ASW][hapmap];1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4766818	0.82[EUR][1000 genomes]
rs4766820	0.87[CEU][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs4766821	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4766822	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4766823	0.86[ASW][hapmap]
rs4767474	0.93[ASW][hapmap];1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4767476	0.87[CEU][hapmap];0.86[JPT][hapmap]
rs4767477	0.86[ASW][hapmap]
rs4767478	0.93[CEU][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4767480	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4767482	0.82[EUR][1000 genomes]
rs4767483	0.94[CEU][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4767484	0.93[ASW][hapmap];1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4767485	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4767487	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4767488	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4767489	0.93[ASW][hapmap];1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4767491	1.00[CEU][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4767493	1.00[CEU][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6490102	0.87[CEU][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs7131746	0.94[CEU][hapmap];0.85[JPT][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7133066	0.85[JPT][hapmap]
rs7133090	0.86[ASW][hapmap]
rs7137006	1.00[CEU][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7137752	1.00[CEU][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7297155	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7297848	0.86[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.92[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7298447	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs7303882	0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7308498	1.00[CEU][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7308734	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7311972	0.87[CEU][hapmap];0.86[JPT][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs7316144	0.93[CEU][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73403241	0.89[EUR][1000 genomes]
rs7486428	0.85[ASW][hapmap]
rs7487081	0.86[JPT][hapmap]
rs7954824	0.82[EUR][1000 genomes]
rs7958030	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7959666	1.00[CEU][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7962339	0.85[EUR][1000 genomes]
rs7973240	0.94[CEU][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs7977598	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1046811	chr12:117353904-117396230	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
3	nsv1048942	chr12:117365506-117400588	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
4	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11068264	FBXW8	cis	Skin Sun Exposed Lower leg	GTEx
rs11068264	HRK	cis	multi-tissue	Pritchard
rs11068264	TESC	cis	parietal	SCAN
rs11068264	TESC	cis	lymphoblastoid	seeQTL
rs11068264	C12orf49	cis	parietal	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117363200-117399400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:117365000-117406000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:117381800-117396200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:117382000-117396400	Weak transcription	GM12878-XiMat	blood
5	chr12:117382600-117408000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:117384400-117411200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:117384600-117427400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:117384800-117402200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:117384800-117407400	Weak transcription	Brain Angular Gyrus	brain
10	chr12:117384800-117411000	Weak transcription	Hela-S3	cervix
11	chr12:117384800-117450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:117385000-117396400	Weak transcription	Colonic Mucosa	Colon
13	chr12:117385200-117399400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:117385200-117406200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:117385200-117410200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:117385200-117410600	Weak transcription	Fetal Kidney	kidney
17	chr12:117385800-117408200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:117386000-117396200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:117386000-117402800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:117386000-117404200	Weak transcription	HepG2	liver
21	chr12:117386000-117405000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:117387600-117399800	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:117387600-117402000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:117387600-117402200	Weak transcription	Brain Substantia Nigra	brain
25	chr12:117387800-117396200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:117387800-117396200	Weak transcription	Gastric	stomach
27	chr12:117387800-117396200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:117387800-117396200	Weak transcription	Right Ventricle	heart
29	chr12:117387800-117396200	Weak transcription	Thymus	Thymus
30	chr12:117387800-117397800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:117387800-117397800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:117387800-117398400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:117387800-117399000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:117387800-117399400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:117387800-117399400	Weak transcription	Spleen	Spleen
36	chr12:117387800-117399400	Weak transcription	Dnd41	blood
37	chr12:117387800-117399600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:117387800-117399600	Weak transcription	Fetal Thymus	thymus
39	chr12:117387800-117400000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:117387800-117401400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:117387800-117402400	Weak transcription	Esophagus	oesophagus
42	chr12:117387800-117402400	Weak transcription	NHEK	skin
43	chr12:117387800-117404200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:117387800-117407000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:117387800-117407400	Weak transcription	Aorta	Aorta
46	chr12:117387800-117463600	Weak transcription	HMEC	breast
47	chr12:117388000-117402400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:117388000-117402800	Weak transcription	NHDF-Ad	bronchial
49	chr12:117388200-117401400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr12:117388400-117396800	Weak transcription	Muscle Satellite Cultured Cells	--

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