Variant report

Variant	rs11821773
Chromosome Location	chr11:17117354-17117355
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	chr11:17113019..17115977-chr11:17116929..17118589,2	MCF-7	breast:
2	chr11:17116807..17119779-chr11:17122557..17124694,3	MCF-7	breast:

Extended variants
information (count: 115 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10741724	0.84[EUR][1000 genomes]
rs10766373	0.81[AFR][1000 genomes]
rs10766381	0.83[EUR][1000 genomes]
rs10832728	0.85[AMR][1000 genomes]
rs10832733	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10832734	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10832735	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10832736	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10832739	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10832743	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10832745	0.84[EUR][1000 genomes]
rs10832746	0.84[EUR][1000 genomes]
rs10832747	0.83[EUR][1000 genomes]
rs10832748	0.83[EUR][1000 genomes]
rs11024143	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11024148	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11024149	0.80[ASN][1000 genomes]
rs11024158	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11024159	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11024163	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11024204	0.84[EUR][1000 genomes]
rs11024208	0.83[EUR][1000 genomes]
rs1125737	0.83[EUR][1000 genomes]
rs12280930	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12286505	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1236309	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1236310	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12804000	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1685932	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17472886	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1979603	0.82[EUR][1000 genomes]
rs1989405	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2052188	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs214900	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs214901	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs214906	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs214909	0.85[EUR][1000 genomes]
rs214910	0.85[EUR][1000 genomes]
rs214912	0.84[EUR][1000 genomes]
rs214913	0.84[EUR][1000 genomes]
rs214914	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	0.85[EUR][1000 genomes]
rs214926	0.85[EUR][1000 genomes]
rs214927	0.83[EUR][1000 genomes]
rs214935	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs214936	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs214937	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs214939	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs214940	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2171615	0.84[EUR][1000 genomes]
rs34591697	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35933265	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs511119	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs512852	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs527810	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs536628	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs545773	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs550667	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs553711	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs567033	0.81[AFR][1000 genomes]
rs577207	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs589319	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs594034	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs598946	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs603618	0.84[EUR][1000 genomes]
rs61357262	0.80[EUR][1000 genomes]
rs615358	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs618331	0.84[EUR][1000 genomes]
rs620241	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs621246	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs635802	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6486352	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6486354	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs651513	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs656623	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs662711	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs667984	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs677540	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs680205	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7101686	0.84[EUR][1000 genomes]
rs7104247	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7106705	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7107283	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7118006	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7123301	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7125607	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7342262	0.82[EUR][1000 genomes]
rs7396382	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7396958	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7478986	0.89[EUR][1000 genomes]
rs7925692	0.81[EUR][1000 genomes]
rs7927240	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7930058	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7932916	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7935219	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7937176	0.83[EUR][1000 genomes]
rs7938820	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7939614	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7939750	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7940418	0.82[EUR][1000 genomes]
rs7946010	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7946165	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7949699	0.84[EUR][1000 genomes]
rs9919540	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9919600	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[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
rs11821773	OR7E14P	cis	Esophagus Mucosa	GTEx
rs11821773	NUCB2	Cis_1M	lymphoblastoid	RTeQTL
rs11821773	OR7E14P	cis	Nerve Tibial	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17100400-17119200	Weak transcription	Esophagus	oesophagus
2	chr11:17100400-17119200	Weak transcription	Pancreas	Pancrea
3	chr11:17100400-17119800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:17100400-17157200	Weak transcription	Fetal Heart	heart
5	chr11:17100600-17124200	Weak transcription	Fetal Brain Male	brain
6	chr11:17100800-17119600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:17101600-17145000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:17105400-17172800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:17106800-17156600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:17107000-17167200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:17107800-17147200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:17108200-17141400	Strong transcription	Liver	Liver
13	chr11:17108200-17177400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:17108600-17172800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr11:17108800-17126800	Strong transcription	Osteobl	bone
16	chr11:17109000-17121600	Strong transcription	Adipose Nuclei	Adipose
17	chr11:17109000-17121800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:17109200-17144600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:17109400-17128600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:17109400-17132600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr11:17109400-17148400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:17109600-17127600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:17109600-17147000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:17109800-17121600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:17109800-17158400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:17110000-17118000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:17110000-17121600	Strong transcription	Fetal Muscle Leg	muscle
28	chr11:17110000-17122200	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr11:17110000-17128200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:17110000-17128400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:17110200-17117400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr11:17110200-17118200	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:17110200-17132800	Strong transcription	Fetal Intestine Large	intestine
34	chr11:17110200-17136400	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr11:17110600-17119000	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr11:17111000-17117800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:17111000-17125400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr11:17111200-17118200	Strong transcription	Fetal Stomach	stomach
39	chr11:17111400-17119800	Weak transcription	Stomach Mucosa	stomach
40	chr11:17111600-17119800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr11:17111600-17119800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr11:17111600-17124400	Strong transcription	Fetal Intestine Small	intestine
43	chr11:17111600-17182000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr11:17111800-17157800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr11:17112400-17118000	Strong transcription	Left Ventricle	heart
46	chr11:17112400-17120000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:17112800-17119200	Weak transcription	Gastric	stomach
48	chr11:17112800-17119800	Weak transcription	Aorta	Aorta
49	chr11:17112800-17119800	Weak transcription	Right Ventricle	heart
50	chr11:17113200-17118000	Weak transcription	Primary hematopoietic stem cells	blood

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