Variant report

Variant	rs17359494
Chromosome Location	chr15:83549287-83549288
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83548836..83552018-chr15:83556203..83558359,3	K562	blood:
2	chr15:83543732..83546327-chr15:83548068..83551024,3	K562	blood:
3	chr15:83545265..83547067-chr15:83547824..83550376,2	MCF-7	breast:
4	chr15:83521559..83523474-chr15:83548872..83551411,2	MCF-7	breast:
5	chr15:83548774..83553055-chr15:83557279..83560019,6	K562	blood:
6	chr15:83548573..83551400-chr15:83560401..83562858,2	MCF-7	breast:
7	chr15:83546960..83549776-chr15:83561446..83563162,2	K562	blood:
8	chr15:83546863..83549693-chr15:83583628..83585437,2	MCF-7	breast:

No data

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1010820	0.82[CEU][hapmap];0.84[MEX][hapmap];0.80[TSI][hapmap]
rs1105714	1.00[YRI][hapmap]
rs1108134	0.81[ASW][hapmap];0.89[YRI][hapmap]
rs11259957	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11856299	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11858468	0.84[MEX][hapmap]
rs12440265	0.83[MEX][hapmap]
rs12442894	0.82[CEU][hapmap];0.89[GIH][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs17359001	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17361375	0.84[MEX][hapmap];0.83[TSI][hapmap]
rs62011709	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62011712	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62011735	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7179851	0.89[YRI][hapmap]
rs72753993	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8031723	0.84[MEX][hapmap];0.83[TSI][hapmap]
rs9806642	0.89[YRI][hapmap]

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	nsv469557	chr15:83417763-83560629	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv482340	chr15:83417763-83560629	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv471687	chr15:83417764-83560629	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17359494	C15orf40	cis	parietal	SCAN
rs17359494	WHAMM	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83504600-83549400	Weak transcription	Psoas Muscle	Psoas
2	chr15:83520000-83549800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr15:83520000-83563800	Weak transcription	Brain Hippocampus Middle	brain
4	chr15:83523600-83558000	Weak transcription	Esophagus	oesophagus
5	chr15:83524600-83567800	Weak transcription	Left Ventricle	heart
6	chr15:83524800-83563800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr15:83537000-83551400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr15:83538000-83549600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:83540600-83573200	Weak transcription	Right Atrium	heart
10	chr15:83540800-83563600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:83541000-83566200	Weak transcription	Spleen	Spleen
12	chr15:83542400-83551000	Weak transcription	Right Ventricle	heart
13	chr15:83542400-83564000	Weak transcription	Lung	lung
14	chr15:83542400-83567200	Weak transcription	Brain Angular Gyrus	brain
15	chr15:83542800-83558000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:83543000-83557600	Weak transcription	Fetal Stomach	stomach
17	chr15:83543600-83557800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr15:83543600-83558000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr15:83543600-83567600	Weak transcription	Aorta	Aorta
20	chr15:83544000-83550800	Weak transcription	Gastric	stomach
21	chr15:83544000-83551000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr15:83544000-83558000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr15:83544000-83558000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr15:83544000-83563800	Weak transcription	Brain Anterior Caudate	brain
25	chr15:83544200-83557800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr15:83544200-83560800	Weak transcription	Primary T cells from cord blood	blood
27	chr15:83544400-83551000	Weak transcription	Fetal Muscle Leg	muscle
28	chr15:83544600-83550400	Weak transcription	HSMMtube	muscle
29	chr15:83544800-83559400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:83545000-83551800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:83547000-83549400	Weak transcription	Pancreas	Pancrea
32	chr15:83549000-83550200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:83549000-83550200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:83549000-83551600	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr15:83549200-83551400	Strong transcription	Liver	Liver
36	chr15:83549200-83551600	Enhancers	Skeletal Muscle Female	skeletal muscle

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