Variant report

Variant	rs7478986
Chromosome Location	chr11:17131249-17131250
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	chr11:17098505..17101274-chr11:17129763..17132323,2	K562	blood:

Variant related genes	Relation type
ENSG00000110700	Chromatin interaction

Extended variants
information (count: 132 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs10741724	0.84[EUR][1000 genomes]
rs10766381	0.83[EUR][1000 genomes]
rs10832733	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10832735	0.82[EUR][1000 genomes]
rs10832736	0.90[EUR][1000 genomes]
rs10832739	0.95[EUR][1000 genomes]
rs10832743	0.92[EUR][1000 genomes]
rs10832745	0.84[EUR][1000 genomes]
rs10832746	0.84[EUR][1000 genomes]
rs10832747	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs10832748	0.84[EUR][1000 genomes]
rs11024143	0.82[EUR][1000 genomes]
rs11024148	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs11024158	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11024159	0.95[EUR][1000 genomes]
rs11024163	0.94[EUR][1000 genomes]
rs11024204	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs11024208	0.83[EUR][1000 genomes]
rs1125737	0.83[EUR][1000 genomes]
rs11603765	0.82[YRI][hapmap]
rs11605718	0.89[YRI][hapmap]
rs11608038	0.87[ASN][1000 genomes]
rs11821773	0.89[EUR][1000 genomes]
rs12280930	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12286505	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1236309	0.93[EUR][1000 genomes]
rs1236310	0.82[EUR][1000 genomes]
rs1236311	0.88[ASN][1000 genomes]
rs12420958	0.84[ASN][1000 genomes]
rs12577388	0.81[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs12577418	0.95[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs12804000	0.93[EUR][1000 genomes]
rs1685932	0.92[EUR][1000 genomes]
rs17472942	0.82[ASN][1000 genomes]
rs17560341	0.95[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs17561348	0.90[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs17641418	0.83[ASN][1000 genomes]
rs1979603	0.82[EUR][1000 genomes]
rs1987694	0.95[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs1989405	0.93[EUR][1000 genomes]
rs2040859	1.00[YRI][hapmap]
rs2052188	0.94[EUR][1000 genomes]
rs214900	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs214901	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs214906	0.92[EUR][1000 genomes]
rs214909	0.85[EUR][1000 genomes]
rs214910	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs214912	0.84[EUR][1000 genomes]
rs214913	0.84[EUR][1000 genomes]
rs214914	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs214915	0.83[EUR][1000 genomes]
rs214916	0.85[EUR][1000 genomes]
rs214917	0.83[EUR][1000 genomes]
rs214918	0.85[EUR][1000 genomes]
rs214919	0.85[EUR][1000 genomes]
rs214920	0.85[EUR][1000 genomes]
rs214921	0.85[EUR][1000 genomes]
rs214922	0.85[EUR][1000 genomes]
rs214925	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs214926	0.84[EUR][1000 genomes]
rs214927	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs214932	0.83[ASN][1000 genomes]
rs214934	0.84[ASN][1000 genomes]
rs214935	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs214936	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs214937	0.91[EUR][1000 genomes]
rs214938	0.84[ASN][1000 genomes]
rs214939	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs214940	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2171615	0.84[EUR][1000 genomes]
rs34724588	0.92[ASN][1000 genomes]
rs34941502	0.88[ASN][1000 genomes]
rs35933265	0.85[EUR][1000 genomes]
rs3950680	0.95[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs4356203	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs476890	0.83[ASN][1000 genomes]
rs492263	0.82[ASN][1000 genomes]
rs511119	0.92[EUR][1000 genomes]
rs512852	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs522619	0.83[ASN][1000 genomes]
rs527810	0.89[EUR][1000 genomes]
rs536628	0.91[EUR][1000 genomes]
rs545773	0.92[EUR][1000 genomes]
rs550667	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs553711	0.90[EUR][1000 genomes]
rs569780	0.83[ASN][1000 genomes]
rs577207	0.90[EUR][1000 genomes]
rs586785	0.83[ASN][1000 genomes]
rs589319	0.92[EUR][1000 genomes]
rs594034	0.90[EUR][1000 genomes]
rs598946	0.91[EUR][1000 genomes]
rs603618	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs61357262	0.81[EUR][1000 genomes]
rs615358	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs615424	0.82[ASN][1000 genomes]
rs618331	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs61879692	0.84[ASN][1000 genomes]
rs61879701	0.85[AFR][1000 genomes]
rs620241	0.92[EUR][1000 genomes]
rs621246	0.92[EUR][1000 genomes]
rs635802	0.92[EUR][1000 genomes]
rs644419	0.90[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs6486352	0.94[EUR][1000 genomes]
rs6486354	0.92[EUR][1000 genomes]
rs651513	0.91[EUR][1000 genomes]
rs656623	0.91[EUR][1000 genomes]
rs662711	0.92[EUR][1000 genomes]
rs665311	0.83[ASN][1000 genomes]
rs667984	0.92[EUR][1000 genomes]
rs677540	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs679201	0.83[ASN][1000 genomes]
rs680205	0.91[EUR][1000 genomes]
rs7101686	0.84[EUR][1000 genomes]
rs7106705	0.84[EUR][1000 genomes]
rs7107283	0.84[EUR][1000 genomes]
rs7108067	0.83[ASN][1000 genomes]
rs7118006	0.94[EUR][1000 genomes]
rs7123301	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7125607	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs7342262	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs7396382	0.95[EUR][1000 genomes]
rs7396958	0.93[EUR][1000 genomes]
rs7925692	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs7932916	0.84[EUR][1000 genomes]
rs7935219	0.93[EUR][1000 genomes]
rs7937176	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs7938820	0.96[CEU][hapmap]
rs7940418	0.82[EUR][1000 genomes]
rs7946010	0.94[EUR][1000 genomes]
rs7949699	1.00[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7478986	OR7E14P	cis	Esophagus Mucosa	GTEx
rs7478986	OR7E14P	cis	Nerve Tibial	GTEx
rs7478986	NUCB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17100400-17157200	Weak transcription	Fetal Heart	heart
2	chr11:17101600-17145000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:17105400-17172800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:17106800-17156600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:17107000-17167200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:17107800-17147200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:17108200-17141400	Strong transcription	Liver	Liver
8	chr11:17108200-17177400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:17108600-17172800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:17109200-17144600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:17109400-17132600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:17109400-17148400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:17109600-17147000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:17109800-17158400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:17110200-17132800	Strong transcription	Fetal Intestine Large	intestine
16	chr11:17110200-17136400	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr11:17111600-17182000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:17111800-17157800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:17115800-17154400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:17116800-17134800	Weak transcription	NHLF	lung
21	chr11:17116800-17149800	Weak transcription	A549	lung
22	chr11:17117800-17147000	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:17117800-17151800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:17118200-17135600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:17118200-17139400	Strong transcription	Placenta	Placenta
26	chr11:17118200-17141400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:17118400-17139200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr11:17118400-17146800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:17119400-17134800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:17120400-17157800	Weak transcription	Stomach Mucosa	stomach
31	chr11:17120400-17181600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:17120600-17155800	Weak transcription	Esophagus	oesophagus
33	chr11:17120800-17156200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr11:17120800-17166200	Weak transcription	Pancreas	Pancrea
35	chr11:17120800-17171800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:17120800-17172200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:17121000-17178000	Weak transcription	Psoas Muscle	Psoas
38	chr11:17122200-17141600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr11:17122600-17145000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:17123000-17140000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:17123400-17132200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:17123400-17132400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr11:17123600-17132200	Strong transcription	Left Ventricle	heart
44	chr11:17124000-17132800	Strong transcription	Fetal Thymus	thymus
45	chr11:17124000-17144200	Strong transcription	Adipose Nuclei	Adipose
46	chr11:17125400-17172200	Weak transcription	Fetal Brain Male	brain
47	chr11:17125800-17181400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr11:17126000-17135200	Strong transcription	Fetal Intestine Small	intestine
49	chr11:17126000-17150000	Weak transcription	K562	blood
50	chr11:17126600-17136000	Weak transcription	Hela-S3	cervix

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