Variant report

Variant	rs10850731
Chromosome Location	chr12:117369341-117369342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117369008..117371802-chr12:117372806..117375152,2	K562	blood:
2	chr12:117369126..117371183-chr12:117378864..117381589,2	MCF-7	breast:

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10507277	1.00[CEU][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10507278	0.82[EUR][1000 genomes]
rs10732611	0.87[JPT][hapmap];0.82[EUR][1000 genomes]
rs10735099	1.00[CEU][hapmap];0.87[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10735100	0.84[YRI][hapmap]
rs10735101	0.84[YRI][hapmap]
rs10735102	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10735103	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10744885	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10744886	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10774891	0.86[JPT][hapmap]
rs10774892	0.87[JPT][hapmap];0.82[EUR][1000 genomes]
rs10774895	0.93[YRI][hapmap]
rs10774896	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs10850737	0.81[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10850743	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10850744	0.83[CEU][hapmap]
rs11068264	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]
rs11068277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11068296	1.00[CEU][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11609970	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12821492	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12823620	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16947281	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs2242469	1.00[CEU][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2393110	0.82[EUR][1000 genomes]
rs2393111	0.92[CEU][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3893370	0.92[CEU][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4074147	0.87[JPT][hapmap];0.83[AMR][1000 genomes]
rs4076700	0.92[CEU][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4077519	0.87[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4130296	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs4522274	0.87[JPT][hapmap];0.82[EUR][1000 genomes]
rs4542506	0.92[CEU][hapmap];0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4562925	0.85[CEU][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs4562926	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4562927	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4766812	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4766814	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4766815	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4766816	0.85[YRI][hapmap]
rs4766820	0.87[JPT][hapmap]
rs4766821	1.00[CEU][hapmap];0.80[JPT][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4766822	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767474	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4767476	0.87[JPT][hapmap];0.82[EUR][1000 genomes]
rs4767478	0.93[CEU][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4767480	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4767482	0.80[JPT][hapmap]
rs4767483	0.92[CEU][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4767484	1.00[CEU][hapmap];0.85[JPT][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4767485	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4767487	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4767488	0.80[JPT][hapmap];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4767489	1.00[CEU][hapmap];0.84[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4767491	1.00[CEU][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4767493	1.00[CEU][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6490102	0.87[JPT][hapmap]
rs7131746	0.92[CEU][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes]
rs7133066	0.80[JPT][hapmap]
rs7133090	0.86[YRI][hapmap]
rs7137006	1.00[CEU][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7137752	1.00[CEU][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7297155	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7297848	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7298447	0.81[JPT][hapmap]
rs7303882	0.86[CEU][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7308498	1.00[CEU][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7308734	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7311972	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs7316144	0.92[CEU][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73403241	0.84[EUR][1000 genomes]
rs7486428	0.86[YRI][hapmap]
rs7487081	0.85[JPT][hapmap]
rs7952766	0.82[EUR][1000 genomes]
rs7958030	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7959666	1.00[CEU][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7973240	0.92[CEU][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes]
rs7976815	0.82[EUR][1000 genomes]
rs7977598	0.82[AMR][1000 genomes];0.87[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	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
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10850731	FBXW8	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117349800-117371000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:117350200-117371000	Weak transcription	Right Ventricle	heart
3	chr12:117350600-117370600	Weak transcription	Fetal Brain Male	brain
4	chr12:117354800-117383200	Weak transcription	Esophagus	oesophagus
5	chr12:117358400-117392600	Weak transcription	Small Intestine	intestine
6	chr12:117358800-117374000	Weak transcription	Colonic Mucosa	Colon
7	chr12:117363200-117371200	Weak transcription	Stomach Mucosa	stomach
8	chr12:117363200-117399400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:117363400-117370000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:117363400-117373400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:117363400-117375200	Weak transcription	HMEC	breast
12	chr12:117363400-117381000	Weak transcription	NHEK	skin
13	chr12:117363400-117381400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:117363400-117385000	Weak transcription	HUVEC	blood vessel
15	chr12:117363600-117375000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:117363800-117371000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:117363800-117374000	Weak transcription	Thymus	Thymus
18	chr12:117364000-117371800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:117364000-117372000	Strong transcription	Primary B cells from cord blood	blood
20	chr12:117364200-117372600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:117364800-117372800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:117364800-117374000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:117365000-117370800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:117365000-117371000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:117365000-117371000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr12:117365000-117383200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:117365000-117383400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr12:117365000-117406000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr12:117365200-117371000	Weak transcription	Brain Substantia Nigra	brain
30	chr12:117365200-117371200	Weak transcription	Brain Angular Gyrus	brain
31	chr12:117365400-117371000	Weak transcription	Psoas Muscle	Psoas
32	chr12:117365600-117369800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:117365600-117370600	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:117365600-117370800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:117365600-117371000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr12:117365600-117372000	Weak transcription	Right Atrium	heart
37	chr12:117365800-117381200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr12:117365800-117383800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr12:117366000-117369400	Strong transcription	Fetal Intestine Large	intestine
40	chr12:117366000-117370400	Strong transcription	A549	lung
41	chr12:117366000-117370800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr12:117366000-117371000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:117366000-117375600	Strong transcription	Primary T cells from cord blood	blood
44	chr12:117366200-117377600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr12:117366600-117370600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:117366600-117370800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr12:117366600-117373000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:117366600-117373400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:117366600-117374000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:117366600-117374000	Weak transcription	NHDF-Ad	bronchial

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