Variant report

Variant	rs10507277
Chromosome Location	chr12:117438939-117438940
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117406724..117409328-chr12:117437750..117440226,2	MCF-7	breast:
2	chr12:117438803..117441545-chr12:117447187..117449859,2	K562	blood:
3	chr12:117437746..117440229-chr12:117441303..117443639,2	K562	blood:
4	chr12:117371490..117373713-chr12:117436920..117439603,2	K562	blood:
5	chr12:117438206..117440859-chr12:117443702..117446007,2	K562	blood:
6	chr12:117421809..117423733-chr12:117438090..117440215,2	MCF-7	breast:

Extended variants
information (count: 105 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10507278	0.81[CEU][hapmap];0.94[EUR][1000 genomes]
rs10732611	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10735099	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]
rs10735102	1.00[CEU][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10735103	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10744885	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10744886	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10774891	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10774892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10774893	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10774896	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10850731	1.00[CEU][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10850737	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10850741	0.81[EUR][1000 genomes]
rs10850743	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10850744	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs11068245	0.81[CHB][hapmap]
rs11068247	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs11068258	0.86[JPT][hapmap]
rs11068262	0.86[JPT][hapmap]
rs11068264	1.00[CEU][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11068277	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11068280	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs11068282	0.81[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs11068286	0.81[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs11068292	0.94[YRI][hapmap]
rs11068296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12299065	0.83[EUR][1000 genomes]
rs12821492	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12823620	0.81[AMR][1000 genomes]
rs17583145	0.84[JPT][hapmap]
rs17616662	0.86[JPT][hapmap]
rs2242469	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]
rs2270794	0.83[EUR][1000 genomes]
rs2393110	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2393111	0.93[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35833140	0.80[ASN][1000 genomes]
rs3803089	0.86[JPT][hapmap]
rs3893370	0.93[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4074147	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4076700	0.93[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4077519	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4130296	0.86[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4299000	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4347476	0.86[JPT][hapmap]
rs4522274	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4542506	0.93[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4562925	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4562926	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4562927	1.00[CEU][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4766812	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4766814	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4766815	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4766818	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4766820	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4766821	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4766822	0.87[JPT][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4767474	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767476	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767478	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767480	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4767482	0.88[CHB][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767483	0.93[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4767484	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4767485	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4767487	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4767488	0.94[CHB][hapmap];0.93[JPT][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767489	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767490	0.81[EUR][1000 genomes]
rs4767491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767493	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60940473	0.83[EUR][1000 genomes]
rs6490102	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7131746	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7133066	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs7136629	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs7137006	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7137752	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7297155	0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7297848	1.00[CEU][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7297934	0.80[ASN][1000 genomes]
rs7298447	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7302025	0.83[EUR][1000 genomes]
rs7303882	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7308498	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7308734	0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7311972	0.86[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7312388	0.81[ASN][1000 genomes]
rs7316144	0.93[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73403241	0.96[EUR][1000 genomes]
rs7484620	0.85[ASN][1000 genomes]
rs7487081	1.00[JPT][hapmap]
rs7952766	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7954824	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7957907	0.83[EUR][1000 genomes]
rs7958030	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7959666	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962339	0.92[EUR][1000 genomes]
rs7973240	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7976815	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7977598	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9804817	0.83[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
rs10507277	FBXW8	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117384800-117450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr12:117387800-117463600	Weak transcription	HMEC	breast
3	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
4	chr12:117397000-117442400	Weak transcription	Colonic Mucosa	Colon
5	chr12:117404600-117442400	Weak transcription	HepG2	liver
6	chr12:117405600-117442400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:117408200-117442400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:117408400-117452200	Weak transcription	Thymus	Thymus
9	chr12:117411600-117451800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:117412200-117440000	Weak transcription	Esophagus	oesophagus
11	chr12:117417200-117452400	Weak transcription	Psoas Muscle	Psoas
12	chr12:117417400-117453600	Weak transcription	GM12878-XiMat	blood
13	chr12:117418400-117441800	Weak transcription	K562	blood
14	chr12:117418400-117442400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:117418400-117444600	Weak transcription	HUVEC	blood vessel
16	chr12:117425400-117441800	Weak transcription	Gastric	stomach
17	chr12:117425800-117439400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:117426200-117466600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:117426600-117439600	Weak transcription	Fetal Brain Male	brain
20	chr12:117426800-117445600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:117427000-117439800	Weak transcription	NHLF	lung
22	chr12:117427200-117442400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:117427200-117442800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr12:117427800-117443400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:117428000-117442400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:117428000-117442400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:117428000-117442400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:117428200-117439800	Weak transcription	Fetal Brain Female	brain
29	chr12:117428200-117440000	Weak transcription	Pancreas	Pancrea
30	chr12:117428200-117440400	Weak transcription	Fetal Lung	lung
31	chr12:117428200-117442200	Weak transcription	A549	lung
32	chr12:117428200-117442400	Weak transcription	Fetal Kidney	kidney
33	chr12:117428200-117442400	Weak transcription	Fetal Thymus	thymus
34	chr12:117428200-117447600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:117428600-117442400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:117428600-117442800	Weak transcription	NHDF-Ad	bronchial
37	chr12:117428800-117442400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:117429400-117441800	Weak transcription	Ovary	ovary
39	chr12:117429400-117442600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:117429600-117441000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr12:117429600-117441600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:117429600-117441800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:117429600-117442600	Weak transcription	HSMMtube	muscle
44	chr12:117429800-117442400	Weak transcription	Adipose Nuclei	Adipose
45	chr12:117429800-117442400	Weak transcription	Dnd41	blood
46	chr12:117430000-117439800	Weak transcription	Right Ventricle	heart
47	chr12:117430000-117440800	Weak transcription	HSMM	muscle
48	chr12:117430000-117441800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:117430000-117442400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:117430800-117442200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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