Variant report

Variant	rs10735099
Chromosome Location	chr12:117363831-117363832
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117363015..117363893-chr9:114658260..114659021,2	Hela-S3	cervix:
2	chr12:117349947..117352255-chr12:117362016..117363854,2	K562	blood:
3	chr12:117356736..117358510-chr12:117362462..117364060,2	MCF-7	breast:
4	chr12:117171214..117173165-chr12:117362456..117365349,2	MCF-7	breast:

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10507277	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10507278	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs10732611	0.83[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10735102	1.00[CEU][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10735103	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10744885	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10744886	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10774891	0.81[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs10774892	0.87[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10774893	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774896	0.87[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10850731	1.00[CEU][hapmap];0.87[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10850733	0.81[EUR][1000 genomes]
rs10850737	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10850743	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10850744	0.86[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap]
rs11068247	0.84[JPT][hapmap]
rs11068258	0.86[JPT][hapmap]
rs11068262	0.86[JPT][hapmap]
rs11068264	1.00[CEU][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11068277	1.00[CEU][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11068280	0.91[JPT][hapmap]
rs11068282	0.84[JPT][hapmap]
rs11068286	0.84[JPT][hapmap]
rs11068292	0.83[YRI][hapmap]
rs11068296	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11609970	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12821492	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12823620	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17583145	0.84[JPT][hapmap]
rs17616662	0.86[JPT][hapmap]
rs2242469	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2270794	0.81[CEU][hapmap]
rs2393110	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2393111	0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35833140	0.85[ASN][1000 genomes]
rs3803089	0.86[JPT][hapmap]
rs3893370	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4074147	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4076700	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4077519	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4130296	0.87[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4238051	0.81[EUR][1000 genomes]
rs4299000	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4324001	0.83[ASN][1000 genomes]
rs4347476	0.86[JPT][hapmap]
rs4522274	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4542506	0.94[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4562925	0.87[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4562926	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4562927	1.00[CEU][hapmap];0.86[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4766812	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4766814	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4766815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4766818	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4766820	0.83[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4766821	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4766822	0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4767473	0.81[EUR][1000 genomes]
rs4767474	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767476	0.83[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767478	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767480	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767482	0.88[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4767483	0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4767484	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4767485	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4767487	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4767488	0.94[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767489	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4767491	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767493	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6490097	0.85[ASN][1000 genomes]
rs6490102	0.83[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7131746	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7133066	0.87[CHB][hapmap];0.93[JPT][hapmap]
rs7136629	0.86[JPT][hapmap]
rs7137006	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7137752	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7297155	0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7297848	1.00[CEU][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7297934	0.85[ASN][1000 genomes]
rs7298447	0.83[CEU][hapmap];0.87[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs7303882	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7308498	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7308734	0.86[EUR][1000 genomes]
rs7311972	0.87[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7312388	0.86[ASN][1000 genomes]
rs7316144	0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73403241	0.87[EUR][1000 genomes]
rs7484620	0.89[ASN][1000 genomes]
rs7487081	1.00[JPT][hapmap]
rs7952766	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954824	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7958030	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7959666	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7962339	0.83[EUR][1000 genomes]
rs7973240	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7976815	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977598	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv1798657	chr12:117354067-117392259	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10735099	FBXW8	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117349600-117364000	Weak transcription	Brain Angular Gyrus	brain
2	chr12:117349600-117365800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:117349800-117364000	Weak transcription	Adipose Nuclei	Adipose
4	chr12:117349800-117366000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr12:117349800-117366000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:117349800-117366000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:117349800-117371000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:117350000-117365400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:117350000-117366000	Weak transcription	Fetal Lung	lung
10	chr12:117350200-117366000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:117350200-117366000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr12:117350200-117366800	Weak transcription	Spleen	Spleen
13	chr12:117350200-117367800	Weak transcription	Brain Germinal Matrix	brain
14	chr12:117350200-117371000	Weak transcription	Right Ventricle	heart
15	chr12:117350600-117370600	Weak transcription	Fetal Brain Male	brain
16	chr12:117352400-117364200	Weak transcription	Fetal Stomach	stomach
17	chr12:117354800-117383200	Weak transcription	Esophagus	oesophagus
18	chr12:117355600-117365400	Weak transcription	Lung	lung
19	chr12:117356600-117364000	Weak transcription	Ovary	ovary
20	chr12:117357000-117365800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr12:117357200-117364400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:117357200-117365400	Weak transcription	Placenta	Placenta
23	chr12:117357200-117365600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr12:117357200-117367600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr12:117357400-117365400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:117357600-117365000	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:117357800-117367600	Weak transcription	Fetal Heart	heart
28	chr12:117358000-117366000	Weak transcription	Liver	Liver
29	chr12:117358400-117365600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr12:117358400-117366000	Weak transcription	Fetal Intestine Large	intestine
31	chr12:117358400-117366000	Weak transcription	Fetal Kidney	kidney
32	chr12:117358400-117392600	Weak transcription	Small Intestine	intestine
33	chr12:117358600-117365000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:117358600-117365000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:117358600-117365200	Weak transcription	Pancreas	Pancrea
36	chr12:117358600-117366000	Weak transcription	Fetal Intestine Small	intestine
37	chr12:117358800-117374000	Weak transcription	Colonic Mucosa	Colon
38	chr12:117359000-117364800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:117359000-117364800	Weak transcription	Psoas Muscle	Psoas
40	chr12:117359000-117365400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:117359200-117367400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:117359400-117366000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr12:117360800-117364800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:117361400-117365000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:117362000-117365200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:117362200-117364800	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr12:117362200-117365000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:117362400-117364000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr12:117362400-117364000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:117362400-117365600	Enhancers	Colon Smooth Muscle	Colon

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