Variant report

Variant	rs7114018
Chromosome Location	chr11:8089946-8089947
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	chr11:8084754..8086469-chr11:8088768..8090631,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF3F-1	chr11:8089157-8090920	ENSG00000248332

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1406095	0.86[JPT][hapmap]
rs1881240	0.82[JPT][hapmap]
rs4758280	0.88[ASN][1000 genomes]
rs4758281	0.92[CEU][hapmap];0.87[YRI][hapmap];0.85[EUR][1000 genomes]
rs4758282	0.86[EUR][1000 genomes]
rs4758283	0.81[CEU][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs55680063	0.89[ASN][1000 genomes]
rs56103249	0.89[ASN][1000 genomes]
rs6578921	0.93[ASW][hapmap];0.92[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.84[LWK][hapmap];0.94[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7102305	0.87[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7113729	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7114039	0.87[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs7932687	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052808	chr11:8011647-8129191	Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1829170	chr11:8068594-8216369	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv428249	chr11:8068594-8216369	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7114018	OR51Q1	cis	parietal	SCAN
rs7114018	OR51D1	cis	parietal	SCAN
rs7114018	OR56A3	cis	parietal	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8075800-8090000	Weak transcription	Spleen	Spleen
2	chr11:8078200-8090400	Enhancers	Adipose Nuclei	Adipose
3	chr11:8078400-8091400	Weak transcription	Esophagus	oesophagus
4	chr11:8080600-8091600	Enhancers	Right Ventricle	heart
5	chr11:8081800-8090000	Weak transcription	Brain Anterior Caudate	brain
6	chr11:8082800-8093600	Weak transcription	Brain Angular Gyrus	brain
7	chr11:8083000-8090600	Enhancers	Left Ventricle	heart
8	chr11:8084800-8090000	Weak transcription	Gastric	stomach
9	chr11:8085200-8090200	Weak transcription	Brain Substantia Nigra	brain
10	chr11:8085200-8090600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:8085800-8093800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:8086200-8090000	Weak transcription	Colon Smooth Muscle	Colon
13	chr11:8086600-8090400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:8087200-8092000	Enhancers	Fetal Heart	heart
15	chr11:8087400-8090400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:8087600-8090000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr11:8087800-8091600	Enhancers	Right Atrium	heart
18	chr11:8088200-8090600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:8088400-8090000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:8088400-8090400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:8088600-8090000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr11:8088600-8091600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr11:8088800-8090200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:8088800-8091600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr11:8088800-8093600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:8088800-8093600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:8089000-8092200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr11:8089000-8092400	Enhancers	Fetal Stomach	stomach
29	chr11:8089200-8090000	Enhancers	Hela-S3	cervix
30	chr11:8089200-8090400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr11:8089200-8090400	Enhancers	Placenta Amnion	Placenta Amnion
32	chr11:8089400-8090200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr11:8089400-8091600	Enhancers	Placenta	Placenta
34	chr11:8089600-8090000	Enhancers	HSMMtube	muscle
35	chr11:8089600-8090200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:8089600-8090400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:8089600-8090400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:8089600-8090400	Enhancers	NHLF	lung
39	chr11:8089600-8091600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:8089600-8091600	Enhancers	Fetal Intestine Small	intestine
41	chr11:8089600-8091600	Enhancers	Fetal Muscle Leg	muscle
42	chr11:8089600-8092800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr11:8089800-8090000	Enhancers	HSMM	muscle
44	chr11:8089800-8090200	Enhancers	Osteobl	bone
45	chr11:8089800-8090400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:8089800-8090400	Enhancers	Brain Hippocampus Middle	brain
47	chr11:8089800-8090400	Enhancers	Colonic Mucosa	Colon
48	chr11:8089800-8090400	Enhancers	Pancreas	Pancrea
49	chr11:8089800-8090400	Enhancers	NHDF-Ad	bronchial
50	chr11:8089800-8090600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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