Variant report

Variant	rs721608
Chromosome Location	chr11:56997923-56997924
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	chr11:56996267..56998926-chr11:57000187..57002136,2	K562	blood:
2	chr11:56992305..56993973-chr11:56996074..56998381,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10501363	1.00[CEU][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs10896574	0.81[EUR][1000 genomes]
rs10896575	0.81[EUR][1000 genomes]
rs10896577	0.82[EUR][1000 genomes]
rs10896582	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10896587	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10896588	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10896593	0.93[ASN][1000 genomes]
rs11228936	0.82[EUR][1000 genomes]
rs11228937	1.00[CEU][hapmap];0.84[JPT][hapmap];0.82[EUR][1000 genomes]
rs11228941	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11228944	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11228955	0.85[ASN][1000 genomes]
rs1124847	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs12225155	0.86[ASN][1000 genomes]
rs1943479	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1943489	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs2077189	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs2903267	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs3017575	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs3758922	0.85[CEU][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap]
rs716745	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72918002	0.82[EUR][1000 genomes]
rs948849	0.85[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	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
2	nsv482317	chr11:56857026-57028631	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs721608	OR8K5	cis	parietal	SCAN
rs721608	OR5M9	cis	cerebellum	SCAN
rs721608	MRPL16	cis	parietal	SCAN
rs721608	LRRC55	cis	parietal	SCAN
rs721608	OR5L2	cis	parietal	SCAN
rs721608	P2RX3	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56987600-57000800	Weak transcription	Spleen	Spleen
2	chr11:56992600-56998600	Weak transcription	Brain Anterior Caudate	brain
3	chr11:56992800-56998400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:56996000-56998000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:56996200-56998400	Weak transcription	Right Ventricle	heart
6	chr11:56996600-56998600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr11:56996800-56998400	Weak transcription	Left Ventricle	heart
8	chr11:56997200-56998400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:56997400-56998000	Enhancers	Brain Cingulate Gyrus	brain
10	chr11:56997400-56998400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:56997400-56998800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:56997400-56999000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:56997600-56998200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr11:56997600-56998400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:56997600-56998400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:56997600-56998400	Weak transcription	HSMM	muscle
17	chr11:56997800-56998000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:56997800-56998000	Enhancers	Fetal Lung	lung
19	chr11:56997800-56998200	Enhancers	Fetal Muscle Leg	muscle
20	chr11:56997800-56998800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:56997800-56998800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:56997800-56998800	Enhancers	HSMMtube	muscle
23	chr11:56997800-56999200	Bivalent Enhancer	Osteobl	bone
24	chr11:56997800-56999400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:56997800-57000600	Enhancers	Adipose Nuclei	Adipose

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