Variant report

Variant	rs6494086
Chromosome Location	chr15:59537891-59537892
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	chr15:59536729..59539462-chr15:59542944..59544488,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs3794488	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4774323	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57487429	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58579379	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59773793	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62002697	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6494079	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6494080	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6494084	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6494087	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6494089	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7172489	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7172761	0.92[ASN][1000 genomes]
rs7174147	0.92[ASN][1000 genomes]
rs7175876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7179352	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7181249	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8027055	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8027766	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8038705	0.88[EUR][1000 genomes]
rs8040147	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv833027	chr15:59474806-59608544	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv904272	chr15:59500577-59549018	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv904273	chr15:59518488-59567137	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6494086	RAB27A	cis	cerebellum	SCAN

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59511400-59549200	Weak transcription	Colonic Mucosa	Colon
2	chr15:59515800-59566600	Weak transcription	Pancreas	Pancrea
3	chr15:59517600-59546400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr15:59517800-59564200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr15:59521600-59566400	Weak transcription	Psoas Muscle	Psoas
6	chr15:59524000-59541800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr15:59524000-59542200	Weak transcription	Gastric	stomach
8	chr15:59524000-59546200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr15:59524600-59569200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:59524600-59574600	Weak transcription	Lung	lung
11	chr15:59524800-59542200	Weak transcription	Esophagus	oesophagus
12	chr15:59525000-59541800	Weak transcription	Fetal Muscle Leg	muscle
13	chr15:59525000-59546400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr15:59525200-59540200	Weak transcription	Right Ventricle	heart
15	chr15:59525200-59543000	Weak transcription	Right Atrium	heart
16	chr15:59525200-59547800	Weak transcription	Colon Smooth Muscle	Colon
17	chr15:59525200-59554000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr15:59525200-59566600	Weak transcription	Small Intestine	intestine
19	chr15:59525200-59582000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr15:59525400-59541000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr15:59525400-59542200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr15:59529200-59540800	Weak transcription	Adipose Nuclei	Adipose
23	chr15:59529200-59547200	Weak transcription	Aorta	Aorta
24	chr15:59529200-59547800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr15:59529800-59539800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:59529800-59545000	Weak transcription	HepG2	liver
27	chr15:59530200-59548000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr15:59530400-59538600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr15:59530400-59539600	Weak transcription	Primary B cells from cord blood	blood
30	chr15:59530400-59539800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr15:59530600-59539800	Weak transcription	Left Ventricle	heart
32	chr15:59530600-59539800	Weak transcription	HUVEC	blood vessel
33	chr15:59530600-59558200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr15:59530600-59568000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr15:59530800-59543200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr15:59530800-59549400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr15:59530800-59569000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr15:59532000-59539200	Strong transcription	HMEC	breast
39	chr15:59532400-59539600	Strong transcription	NHEK	skin
40	chr15:59532800-59544200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:59533000-59539200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:59533200-59539400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:59533200-59539800	Weak transcription	Fetal Kidney	kidney
44	chr15:59533400-59539400	Weak transcription	Brain Hippocampus Middle	brain
45	chr15:59533400-59539400	Weak transcription	Fetal Heart	heart
46	chr15:59533400-59541000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr15:59533400-59541800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr15:59533400-59542000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr15:59533400-59543200	Weak transcription	NHDF-Ad	bronchial
50	chr15:59533400-59559800	Weak transcription	NHLF	lung

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