Variant report

Variant	rs567814
Chromosome Location	chr11:77435831-77435832
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11237265	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11820337	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12225188	0.82[YRI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12417115	0.80[ASW][hapmap]
rs12418335	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1790256	0.81[ASW][hapmap];0.80[MKK][hapmap]
rs1793340	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2186562	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4145700	0.87[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs501153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs529181	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs569072	0.80[ASW][hapmap]
rs572541	0.88[CHD][hapmap]
rs585721	0.80[MKK][hapmap]
rs616354	1.00[ASW][hapmap];0.96[CEU][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs618535	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs634477	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs648842	0.96[CEU][hapmap];0.80[CHB][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs650636	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs665363	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs681411	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs682324	0.96[CEU][hapmap];0.81[CHB][hapmap]
rs687615	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7111625	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7117813	0.86[ASW][hapmap];0.83[MKK][hapmap];0.89[YRI][hapmap]
rs7119332	0.86[ASW][hapmap];0.82[MKK][hapmap];0.89[YRI][hapmap]
rs7121559	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7924567	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7932547	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7941302	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7949468	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1053074	chr11:77290458-77435831	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1037292	chr11:77431583-77745934	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv541092	chr11:77431583-77745934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs567814	RSF1	cis	cerebellum	SCAN
rs567814	KCTD14	cis	cerebellum	SCAN
rs567814	OR2AT4	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77391600-77442000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:77394600-77441800	Weak transcription	Spleen	Spleen
3	chr11:77394600-77445600	Weak transcription	Esophagus	oesophagus
4	chr11:77394600-77458800	Weak transcription	Small Intestine	intestine
5	chr11:77394800-77462600	Weak transcription	Fetal Heart	heart
6	chr11:77403200-77442200	Weak transcription	Brain Anterior Caudate	brain
7	chr11:77404600-77441800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:77407200-77448000	Weak transcription	K562	blood
9	chr11:77409400-77441600	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:77409600-77441800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:77409600-77453400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:77409600-77458800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:77409600-77478200	Weak transcription	Brain Angular Gyrus	brain
14	chr11:77409800-77441600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:77409800-77441600	Weak transcription	Aorta	Aorta
16	chr11:77409800-77441800	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:77410400-77477600	Weak transcription	Brain Substantia Nigra	brain
18	chr11:77412800-77441800	Weak transcription	Fetal Brain Male	brain
19	chr11:77416800-77441600	Weak transcription	HMEC	breast
20	chr11:77416800-77441800	Weak transcription	NHEK	skin
21	chr11:77417200-77442000	Weak transcription	HUVEC	blood vessel
22	chr11:77417800-77441600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:77418400-77441600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr11:77422200-77441600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr11:77424000-77436800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:77424400-77438000	Strong transcription	Primary T cells from cord blood	blood
27	chr11:77424400-77442000	Weak transcription	Right Ventricle	heart
28	chr11:77424600-77436400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:77425200-77436600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr11:77425800-77438000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:77426800-77436200	Strong transcription	Dnd41	blood
32	chr11:77427000-77436400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:77427000-77436600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:77427000-77437200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:77427000-77437600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:77427200-77436800	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr11:77427400-77436400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:77427400-77436800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:77427600-77436800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr11:77427600-77436800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr11:77428600-77442000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr11:77429000-77436800	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:77429400-77438000	Strong transcription	Fetal Thymus	thymus
44	chr11:77430400-77437000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr11:77430800-77438000	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr11:77431000-77436600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:77431600-77482400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr11:77432200-77436800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:77432200-77436800	Strong transcription	Fetal Intestine Large	intestine
50	chr11:77432200-77438000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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