Variant report

Variant	rs16977020
Chromosome Location	chr15:56919277-56919278
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:56917635..56921427-chr15:56927858..56931559,3	K562	blood:

Variant related genes	Relation type
ENSG00000137871	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11630168	0.90[CHB][hapmap]
rs11638707	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs11856558	0.90[CHB][hapmap]
rs11857706	0.90[CHB][hapmap]
rs12442189	0.95[CHB][hapmap]
rs12591502	0.89[CHB][hapmap]
rs12592389	0.86[CHB][hapmap]
rs12898521	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs12900244	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs12903283	0.90[CHB][hapmap]
rs12903336	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs12903862	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs12905514	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs12911381	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs12913361	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs1424694	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs17238845	0.90[CHB][hapmap]
rs1979467	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1994081	0.90[CHB][hapmap]
rs2046213	0.96[EUR][1000 genomes]
rs2170459	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2170463	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs2279298	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2279299	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs28620278	0.90[CHB][hapmap]
rs3784553	0.90[CEU][hapmap];0.81[CHB][hapmap];0.82[GIH][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes]
rs3803457	0.86[CHB][hapmap]
rs3816752	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs3929265	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs4774244	0.90[CHB][hapmap]
rs4774886	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs538382	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs553421	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs6493882	0.81[LWK][hapmap]
rs7162317	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs7164095	0.80[CHB][hapmap];0.82[GIH][hapmap]
rs7165211	0.86[EUR][1000 genomes]
rs7168178	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs7171500	0.89[CEU][hapmap];0.81[CHB][hapmap];0.81[EUR][1000 genomes]
rs7172110	0.89[CEU][hapmap]
rs7179781	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7181745	0.86[EUR][1000 genomes]
rs72744938	0.95[EUR][1000 genomes]
rs8025391	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs8043223	0.90[CHB][hapmap];0.82[JPT][hapmap]

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	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription 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	27 gene(s)	inside rSNPs	diseases
2	nsv1041239	chr15:56888945-56959028	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16977020	MYO1E	trans	cerebellum	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56902800-56945400	Weak transcription	Right Ventricle	heart
2	chr15:56905600-56923600	Weak transcription	Left Ventricle	heart
3	chr15:56908800-56923400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr15:56910600-56945400	Weak transcription	HSMMtube	muscle
5	chr15:56912800-56921000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr15:56912800-56923400	Weak transcription	Adipose Nuclei	Adipose
7	chr15:56912800-56923400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr15:56912800-56957000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr15:56913000-56923400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:56913200-56923200	Weak transcription	HSMM	muscle
11	chr15:56913200-56923600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr15:56913200-56929600	Weak transcription	NHDF-Ad	bronchial
13	chr15:56913400-56923600	Weak transcription	Dnd41	blood
14	chr15:56913400-56955200	Weak transcription	Aorta	Aorta
15	chr15:56914000-56921000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:56914000-56929400	Weak transcription	Fetal Stomach	stomach
17	chr15:56914200-56921200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr15:56915200-56937400	Weak transcription	Liver	Liver
19	chr15:56915400-56923600	Weak transcription	Primary T cells from cord blood	blood
20	chr15:56915600-56929000	Weak transcription	Thymus	Thymus
21	chr15:56916600-56990800	Weak transcription	Pancreas	Pancrea
22	chr15:56916800-56949800	Weak transcription	Fetal Kidney	kidney
23	chr15:56917200-56955200	Weak transcription	Psoas Muscle	Psoas
24	chr15:56917600-56921400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr15:56917600-56923600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:56917600-56944800	Weak transcription	Fetal Brain Male	brain
27	chr15:56917600-56957000	Weak transcription	Brain Anterior Caudate	brain
28	chr15:56917800-56923200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr15:56917800-56923200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr15:56917800-56923400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:56917800-56923400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:56917800-56923400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr15:56917800-56923600	Weak transcription	Primary B cells from cord blood	blood
34	chr15:56917800-56938200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr15:56917800-56945400	Weak transcription	GM12878-XiMat	blood
36	chr15:56917800-56955800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr15:56917800-56956800	Weak transcription	Colon Smooth Muscle	Colon
38	chr15:56917800-56959800	Weak transcription	Brain Angular Gyrus	brain
39	chr15:56917800-56990600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr15:56917800-56990600	Weak transcription	NHLF	lung
41	chr15:56918000-56921200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr15:56918000-56923600	Weak transcription	Brain Hippocampus Middle	brain
43	chr15:56918000-56923600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr15:56918000-56923600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr15:56918000-56923600	Weak transcription	Fetal Lung	lung
46	chr15:56918000-56923600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr15:56918000-56945200	Weak transcription	A549	lung
48	chr15:56918000-56945600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr15:56918200-56923600	Weak transcription	Fetal Muscle Leg	muscle
50	chr15:56918200-56925200	Strong transcription	Fetal Thymus	thymus

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