Variant report

Variant	rs17573746
Chromosome Location	chr11:57058050-57058051
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57057864..57060115-chr11:57077386..57079092,2	K562	blood:
2	chr11:57054119..57055817-chr11:57056787..57058987,2	K562	blood:

Variant related genes	Relation type
ENSG00000149115	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10732882	0.93[CHD][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs10792083	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10792085	0.87[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10896596	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10896599	0.89[EUR][1000 genomes]
rs10896601	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896602	0.87[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10896609	0.81[ASN][1000 genomes]
rs11228971	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11228988	0.91[ASN][1000 genomes]
rs11602501	0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11604373	0.88[ASN][1000 genomes]
rs1939496	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155231	0.81[EUR][1000 genomes]
rs2276042	0.82[CHD][hapmap]
rs2282623	1.00[YRI][hapmap]
rs2511029	0.84[EUR][1000 genomes]
rs2846051	0.85[EUR][1000 genomes]
rs3935069	0.98[ASN][1000 genomes]
rs4939129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4939131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4939134	0.85[ASN][1000 genomes]
rs5012051	1.00[CEU][hapmap];0.92[GIH][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs522656	0.82[EUR][1000 genomes]
rs55637147	0.82[ASN][1000 genomes]
rs590240	0.83[EUR][1000 genomes]
rs7130020	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs746886	1.00[YRI][hapmap]
rs7928905	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7931298	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7936545	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7943761	0.91[ASN][1000 genomes]
rs7943915	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7948723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs879646	0.82[CHD][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17573746	OR9I1	cis	cerebellum	SCAN
rs17573746	OR5M9	cis	cerebellum	SCAN
rs17573746	OR4C6	cis	parietal	SCAN

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57046000-57062000	Weak transcription	Right Atrium	heart
2	chr11:57051800-57062000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:57052200-57060400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:57052400-57078200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:57055000-57058400	Enhancers	HMEC	breast
6	chr11:57055200-57058400	Enhancers	NHEK	skin
7	chr11:57055200-57063400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:57055400-57058200	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr11:57055400-57058400	Enhancers	Fetal Intestine Large	intestine
10	chr11:57055600-57058200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:57055600-57058200	Enhancers	NHDF-Ad	bronchial
12	chr11:57055600-57058400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr11:57055600-57058400	Enhancers	NH-A	brain
14	chr11:57055600-57058400	Enhancers	NHLF	lung
15	chr11:57055800-57058200	Enhancers	HUVEC	blood vessel
16	chr11:57055800-57058400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:57055800-57058400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:57055800-57058400	Enhancers	Duodenum Mucosa	Duodenum
19	chr11:57056000-57058200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:57056000-57058400	Enhancers	Fetal Intestine Small	intestine
21	chr11:57056000-57058600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:57056800-57058400	Enhancers	Liver	Liver
23	chr11:57056800-57060400	Weak transcription	Esophagus	oesophagus
24	chr11:57056800-57060400	Weak transcription	Placenta	Placenta
25	chr11:57056800-57062200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:57056800-57064200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:57056800-57065400	Weak transcription	Fetal Heart	heart
28	chr11:57057000-57058200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:57057000-57058200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr11:57057000-57058400	Enhancers	Osteobl	bone
31	chr11:57057000-57060600	Weak transcription	Pancreas	Pancrea
32	chr11:57057000-57060800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr11:57057000-57061800	Weak transcription	Fetal Stomach	stomach
34	chr11:57057000-57062000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:57057000-57062200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:57057000-57064800	Weak transcription	Spleen	Spleen
37	chr11:57057000-57065200	Weak transcription	Brain Hippocampus Middle	brain
38	chr11:57057000-57066400	Weak transcription	Colonic Mucosa	Colon
39	chr11:57057000-57066800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:57057200-57059800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr11:57057200-57059800	Enhancers	HSMMtube	muscle
42	chr11:57057200-57060200	Weak transcription	Fetal Muscle Leg	muscle
43	chr11:57057200-57060400	Enhancers	HepG2	liver
44	chr11:57057200-57060600	Weak transcription	Adipose Nuclei	Adipose
45	chr11:57057200-57060600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr11:57057200-57060800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:57057200-57061000	Weak transcription	Lung	lung
48	chr11:57057200-57061800	Weak transcription	Fetal Lung	lung
49	chr11:57057200-57062000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr11:57057200-57062000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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