Variant report

Variant	rs11042217
Chromosome Location	chr11:9215691-9215692
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10454487	1.00[ASN][1000 genomes]
rs10840170	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10840186	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10840188	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10840189	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11042196	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11042197	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11042215	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11042220	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11042224	1.00[ASN][1000 genomes]
rs11042228	1.00[ASN][1000 genomes]
rs11042230	1.00[ASN][1000 genomes]
rs11042231	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11042232	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11042233	1.00[ASN][1000 genomes]
rs11042240	1.00[ASN][1000 genomes]
rs11042241	1.00[ASN][1000 genomes]
rs11042242	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042246	1.00[ASN][1000 genomes]
rs11042253	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11042268	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1136966	1.00[CHB][hapmap]
rs11607384	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12286621	1.00[ASN][1000 genomes]
rs12360767	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12363839	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12807631	0.87[EUR][1000 genomes]
rs17257379	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1984775	1.00[CHB][hapmap]
rs2014868	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2133215	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2173406	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4061640	1.00[CHB][hapmap]
rs4910037	0.80[EUR][1000 genomes]
rs4910443	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs55962227	1.00[ASN][1000 genomes]
rs56294473	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60693427	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486138	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap]
rs6486204	1.00[ASN][1000 genomes]
rs6486209	1.00[ASN][1000 genomes]
rs66554737	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67890540	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7103472	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7113467	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7114013	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7121753	1.00[ASN][1000 genomes]
rs7129049	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7130400	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72859676	1.00[ASN][1000 genomes]
rs72859678	1.00[ASN][1000 genomes]
rs72859693	1.00[ASN][1000 genomes]
rs7394454	1.00[ASN][1000 genomes]
rs7394869	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7395631	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7396115	1.00[CHB][hapmap]
rs7396130	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7396541	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7396840	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7926864	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7929621	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7936201	1.00[CHB][hapmap]
rs7936622	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7938562	1.00[ASN][1000 genomes]
rs7940872	1.00[ASN][1000 genomes]
rs7941341	1.00[CHB][hapmap]
rs7945570	1.00[ASN][1000 genomes]
rs7945759	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7949022	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7949349	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9645644	1.00[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	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11042217	OR56A1	cis	cerebellum	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9162000-9230600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:9169600-9238000	Weak transcription	Esophagus	oesophagus
3	chr11:9171800-9230200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:9172000-9230400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:9174000-9225800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:9182400-9225000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:9182400-9231800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:9184200-9216800	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:9186800-9215800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr11:9198400-9224600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:9199800-9230400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:9200000-9225200	Weak transcription	Thymus	Thymus
13	chr11:9200200-9224800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:9200400-9216600	Weak transcription	Fetal Brain Male	brain
15	chr11:9200400-9223600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr11:9200400-9224200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:9200600-9224800	Weak transcription	Lung	lung
18	chr11:9200600-9224800	Weak transcription	Psoas Muscle	Psoas
19	chr11:9200600-9229000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:9200600-9230400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr11:9201000-9230800	Weak transcription	HMEC	breast
22	chr11:9202400-9224600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr11:9202400-9225000	Weak transcription	NHEK	skin
24	chr11:9202600-9224200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr11:9202600-9225000	Weak transcription	Aorta	Aorta
26	chr11:9202600-9251200	Weak transcription	Small Intestine	intestine
27	chr11:9202800-9224200	Weak transcription	Pancreas	Pancrea
28	chr11:9202800-9224800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr11:9203000-9219800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:9203000-9224800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr11:9203200-9224200	Weak transcription	NHLF	lung
32	chr11:9203200-9225000	Weak transcription	Right Ventricle	heart
33	chr11:9203200-9227200	Weak transcription	Right Atrium	heart
34	chr11:9203600-9225200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:9207400-9225200	Weak transcription	Gastric	stomach
36	chr11:9208000-9216000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr11:9208000-9219200	Strong transcription	Fetal Muscle Trunk	muscle
38	chr11:9208200-9215800	Strong transcription	Fetal Stomach	stomach
39	chr11:9208600-9215800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:9208600-9215800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:9208800-9215800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:9209400-9225200	Weak transcription	Brain Angular Gyrus	brain
43	chr11:9210000-9224200	Weak transcription	Brain Anterior Caudate	brain
44	chr11:9210200-9224200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:9210400-9216400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:9210600-9219600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:9210800-9216600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:9210800-9224600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr11:9211000-9215800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:9211200-9218000	Strong transcription	Cortex derived primary cultured neurospheres	brain

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