Variant report

Variant	rs16924153
Chromosome Location	chr8:59785683-59785684
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10095658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10110270	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10110482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113676	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11984470	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12544720	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1316677	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1448545	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16924180	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2875869	0.87[EUR][1000 genomes]
rs6984917	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.82[MKK][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003454	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003713	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765587	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv890940	chr8:59785412-59809785	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16924153	TMEM117	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59764200-59806400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:59771400-59811000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:59771600-59794000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:59772600-59794400	Weak transcription	Small Intestine	intestine
5	chr8:59773400-59808200	Weak transcription	Thymus	Thymus
6	chr8:59774600-59789600	Weak transcription	Primary T cells from cord blood	blood
7	chr8:59777800-59788200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:59777800-59795000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr8:59778200-59789000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:59779400-59788800	Weak transcription	HUVEC	blood vessel
11	chr8:59780400-59785800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:59780400-59790000	Weak transcription	HSMM	muscle
13	chr8:59780600-59791600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:59780800-59788800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:59781400-59789000	Weak transcription	Fetal Thymus	thymus
16	chr8:59782200-59800200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:59782400-59788800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:59783400-59789200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr8:59784400-59789000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:59784400-59792600	Weak transcription	Aorta	Aorta
21	chr8:59785000-59786400	Enhancers	NHDF-Ad	bronchial
22	chr8:59785200-59786600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:59785400-59789000	Enhancers	Osteobl	bone
24	chr8:59785400-59792200	Weak transcription	Dnd41	blood
25	chr8:59785600-59786200	Enhancers	NHLF	lung

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