Variant report

Variant	rs7299963
Chromosome Location	chr12:120158203-120158204
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	chr12:120157930..120159494-chr12:120164528..120166631,2	K562	blood:
2	chr12:120152789..120154437-chr12:120157591..120159706,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10849691	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10849692	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11064884	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12296121	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1318272	0.89[CEU][hapmap];0.91[GIH][hapmap];0.83[TSI][hapmap]
rs175877	0.95[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs175879	0.83[CHB][hapmap]
rs202983	0.82[MKK][hapmap]
rs202984	0.86[ASN][1000 genomes]
rs202985	0.83[CHB][hapmap]
rs203326	0.83[CHB][hapmap]
rs203327	1.00[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs203329	0.85[CEU][hapmap];0.83[CHB][hapmap];0.80[CHD][hapmap];0.80[TSI][hapmap]
rs203330	0.85[CEU][hapmap]
rs203331	0.83[CHB][hapmap]
rs203332	0.80[CHD][hapmap]
rs2074052	0.85[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap]
rs2285595	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs278102	0.82[MKK][hapmap]
rs278108	0.91[CHB][hapmap]
rs278109	1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs278111	0.90[ASN][1000 genomes]
rs278115	0.88[ASN][1000 genomes]
rs278117	0.86[ASN][1000 genomes]
rs278118	0.86[ASN][1000 genomes]
rs278126	0.82[YRI][hapmap]
rs278128	0.83[CHB][hapmap]
rs278129	0.83[CHB][hapmap]
rs278130	0.83[CHB][hapmap]
rs278131	0.83[CHB][hapmap]
rs278135	0.83[CHB][hapmap]
rs278137	1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs278141	0.85[ASN][1000 genomes]
rs278142	0.87[CHB][hapmap]
rs2936830	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2936831	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2936832	0.88[ASN][1000 genomes]
rs2952403	0.81[ASN][1000 genomes]
rs2952444	0.85[CEU][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap]
rs2996027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2996028	0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2996029	0.96[CEU][hapmap];0.87[CHB][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2996030	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3213625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3213626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35070805	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3956827	0.84[EUR][1000 genomes]
rs402811	0.85[ASN][1000 genomes]
rs404447	0.86[ASN][1000 genomes]
rs4766946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766947	0.88[CEU][hapmap];0.86[CHB][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4767839	0.96[CEU][hapmap];0.87[CHB][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4767841	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6490269	0.82[CEU][hapmap]
rs7131914	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7132952	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7303046	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7961569	0.96[CEU][hapmap];0.87[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs904654	0.85[CEU][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.82[TSI][hapmap]
rs904655	0.96[CEU][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.81[MEX][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7299963	FBXW8	cis	parietal	SCAN
rs7299963	MLXIP	cis	cerebellum	SCAN
rs7299963	WSB2	cis	cerebellum	SCAN

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120108200-120161000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:120116800-120201800	Weak transcription	Fetal Heart	heart
3	chr12:120121200-120173400	Weak transcription	Primary B cells from cord blood	blood
4	chr12:120122200-120160800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:120123400-120182000	Strong transcription	Dnd41	blood
6	chr12:120130800-120182200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:120131200-120161600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:120132800-120162000	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:120137000-120159800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:120139600-120159600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:120141000-120159600	Strong transcription	Fetal Thymus	thymus
12	chr12:120143600-120160200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:120143800-120159800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:120143800-120160800	Strong transcription	Thymus	Thymus
15	chr12:120143800-120211200	Weak transcription	Fetal Brain Male	brain
16	chr12:120144200-120160000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:120144400-120160200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:120144600-120159800	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr12:120144800-120159400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr12:120145000-120168600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr12:120148400-120163400	Weak transcription	Brain Substantia Nigra	brain
22	chr12:120149400-120224800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr12:120151600-120196600	Weak transcription	Gastric	stomach
24	chr12:120151800-120208400	Weak transcription	Fetal Brain Female	brain
25	chr12:120151800-120218600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr12:120152600-120165200	Weak transcription	Primary T cells from cord blood	blood
27	chr12:120152800-120159600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:120154000-120177200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:120154800-120158400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:120154800-120158800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr12:120154800-120160200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:120154800-120164000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr12:120154800-120165800	Weak transcription	NHEK	skin
34	chr12:120154800-120167400	Weak transcription	HMEC	breast
35	chr12:120154800-120170600	Weak transcription	Fetal Kidney	kidney
36	chr12:120154800-120171400	Weak transcription	Brain Hippocampus Middle	brain
37	chr12:120154800-120173400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:120154800-120174600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:120154800-120186000	Weak transcription	NH-A	brain
40	chr12:120154800-120209600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr12:120155000-120158400	Weak transcription	Placenta	Placenta
42	chr12:120155000-120159200	Weak transcription	HSMM	muscle
43	chr12:120155000-120162800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:120155000-120167800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr12:120155000-120170000	Weak transcription	Hela-S3	cervix
46	chr12:120155000-120171400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:120155000-120172800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:120155800-120159600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:120155800-120160000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:120155800-120160400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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