Variant report

Variant	rs2242469
Chromosome Location	chr12:117468367-117468368
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	chr12:117468241..117470806-chr12:117471546..117474082,2	K562	blood:
2	chr12:117462045..117463688-chr12:117467328..117470013,2	MCF-7	breast:

Extended variants
information (count: 107 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10507277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10507278	0.81[CEU][hapmap];0.96[EUR][1000 genomes]
rs10732611	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10735099	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]
rs10735102	1.00[CEU][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10735103	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10744885	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10744886	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10774891	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10774892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10774893	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10774896	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10850731	1.00[CEU][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10850737	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10850743	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10850744	0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs11068245	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs11068247	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs11068258	0.93[JPT][hapmap]
rs11068262	0.93[JPT][hapmap]
rs11068264	1.00[CEU][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11068277	1.00[CEU][hapmap];0.85[JPT][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11068280	1.00[JPT][hapmap]
rs11068282	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs11068286	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs11068292	0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs11068296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068310	0.83[JPT][hapmap]
rs12299065	0.81[EUR][1000 genomes]
rs12821492	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17583145	0.92[JPT][hapmap]
rs17616662	0.93[JPT][hapmap]
rs2133684	0.80[ASN][1000 genomes]
rs2270792	0.86[JPT][hapmap]
rs2270793	0.83[JPT][hapmap]
rs2270794	0.85[EUR][1000 genomes]
rs2291912	0.81[JPT][hapmap]
rs2393110	0.85[ASN][1000 genomes]
rs2393111	0.93[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3782189	0.83[JPT][hapmap]
rs3782190	0.83[JPT][hapmap]
rs3803089	0.93[JPT][hapmap]
rs3893370	0.93[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4074147	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4076700	0.93[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4077519	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4130296	0.86[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4299000	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4347476	0.93[JPT][hapmap]
rs4522274	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4542506	0.93[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4562925	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4562926	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4562927	1.00[CEU][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4766812	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4766814	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4766815	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4766818	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4766820	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4766821	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4766822	0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4767474	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4767476	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4767478	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4767480	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767482	0.88[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767483	0.93[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767484	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767485	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767487	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767488	0.94[CHB][hapmap];0.93[JPT][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4767489	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4767493	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60940473	0.81[EUR][1000 genomes]
rs6490102	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7131746	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7133066	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs7136629	0.80[CHB][hapmap];0.93[JPT][hapmap]
rs7137006	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7137752	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7297155	0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7297446	0.82[JPT][hapmap]
rs7297848	1.00[CEU][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7298447	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7302025	0.81[EUR][1000 genomes]
rs7303882	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7308498	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7308734	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7311972	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7316144	0.93[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73403241	0.94[EUR][1000 genomes]
rs7484620	0.82[ASN][1000 genomes]
rs7487081	1.00[JPT][hapmap]
rs7952766	0.87[ASN][1000 genomes]
rs7954824	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7957907	0.81[EUR][1000 genomes]
rs7958030	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7959666	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7962339	0.94[EUR][1000 genomes]
rs7973240	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7976815	0.87[ASN][1000 genomes]
rs7977598	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9804817	0.81[EUR][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	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
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2242469	FBXW8	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
2	chr12:117452400-117469000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:117452800-117468400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:117452800-117470200	Weak transcription	HUVEC	blood vessel
5	chr12:117452800-117479000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:117453600-117470600	Weak transcription	Psoas Muscle	Psoas
7	chr12:117454800-117468600	Strong transcription	Primary B cells from cord blood	blood
8	chr12:117457200-117469200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr12:117457600-117469200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:117458600-117469200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:117458800-117469000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:117459600-117469200	Strong transcription	Osteobl	bone
13	chr12:117461000-117469000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:117461200-117469200	Strong transcription	Fetal Thymus	thymus
15	chr12:117461400-117468600	Strong transcription	Fetal Intestine Small	intestine
16	chr12:117461400-117468600	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:117461400-117469200	Strong transcription	Lung	lung
18	chr12:117461600-117468600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:117461600-117470600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:117461800-117468400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:117461800-117469200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:117461800-117469800	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:117462000-117477400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:117463200-117470200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:117463200-117471000	Weak transcription	Right Atrium	heart
26	chr12:117463400-117470200	Weak transcription	GM12878-XiMat	blood
27	chr12:117463600-117470600	Weak transcription	Fetal Kidney	kidney
28	chr12:117463800-117468600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:117463800-117468800	Strong transcription	Primary T cells from cord blood	blood
30	chr12:117463800-117469000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:117463800-117469000	Strong transcription	Fetal Muscle Leg	muscle
32	chr12:117464000-117468400	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr12:117464000-117468400	Strong transcription	Dnd41	blood
34	chr12:117464000-117468600	Strong transcription	Adipose Nuclei	Adipose
35	chr12:117464000-117468600	Strong transcription	Spleen	Spleen
36	chr12:117464000-117468800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:117464000-117469000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:117464000-117469000	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr12:117464000-117469200	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr12:117464000-117469400	Strong transcription	Fetal Muscle Trunk	muscle
41	chr12:117464000-117469600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:117464000-117470000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:117464000-117470800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:117464000-117471800	Weak transcription	K562	blood
45	chr12:117464400-117469600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr12:117464600-117471000	Weak transcription	HSMM	muscle
47	chr12:117464800-117468600	Strong transcription	HepG2	liver
48	chr12:117464800-117469200	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr12:117465600-117468800	Strong transcription	NH-A	brain
50	chr12:117465600-117470600	Weak transcription	Brain Angular Gyrus	brain

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