Variant report

Variant	rs986868
Chromosome Location	chr15:57953564-57953565
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57950789..57953670-chr15:58038334..58040574,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10162772	0.96[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.94[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11071339	0.87[ASW][hapmap];0.96[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11629719	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs1346124	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1425948	0.96[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1425949	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1593439	0.82[LWK][hapmap];0.86[YRI][hapmap]
rs17240055	0.88[CEU][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs1834488	0.88[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2251762	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2433196	0.81[CEU][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs2554026	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs2733601	0.85[EUR][1000 genomes]
rs2733602	0.85[EUR][1000 genomes]
rs2733604	0.86[ASW][hapmap];0.85[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34270510	0.84[EUR][1000 genomes]
rs36082771	0.84[EUR][1000 genomes]
rs4564513	0.80[YRI][hapmap]
rs4578589	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4774979	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs6493939	0.81[CEU][hapmap];0.87[MEX][hapmap]
rs7169211	0.88[CEU][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs7176042	0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs8034146	0.88[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9302201	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.96[MEX][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9806740	0.96[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv530682	chr15:57912502-58108285	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1038667	chr15:57933076-58481870	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv542400	chr15:57933076-58481870	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv524912	chr15:57950634-57953564	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv518825	chr15:57951195-57953564	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs986868	MYO1E	cis	cerebellum	SCAN
rs986868	MYO5A	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57919400-57959400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr15:57932200-57967400	Weak transcription	Aorta	Aorta
3	chr15:57933400-57982600	Weak transcription	Esophagus	oesophagus
4	chr15:57936600-57954000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:57940200-57955000	Weak transcription	Gastric	stomach
6	chr15:57940800-57955000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr15:57941600-57954600	Weak transcription	Pancreas	Pancrea
8	chr15:57941600-57955000	Weak transcription	Psoas Muscle	Psoas
9	chr15:57947000-57954000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr15:57947400-57953800	Weak transcription	Stomach Mucosa	stomach
11	chr15:57947400-57959200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:57947800-57954400	Weak transcription	Fetal Muscle Leg	muscle
13	chr15:57948400-57953800	Weak transcription	Fetal Intestine Large	intestine
14	chr15:57948400-57953800	Weak transcription	Fetal Intestine Small	intestine
15	chr15:57948600-57954800	Strong transcription	Adipose Nuclei	Adipose
16	chr15:57949200-57967400	Weak transcription	Right Ventricle	heart
17	chr15:57952600-57953800	Weak transcription	Fetal Heart	heart
18	chr15:57953200-57954800	Enhancers	Fetal Kidney	kidney
19	chr15:57953200-57955000	Strong transcription	Left Ventricle	heart
20	chr15:57953200-57956000	Enhancers	Duodenum Mucosa	Duodenum
21	chr15:57953400-57953600	Enhancers	Small Intestine	intestine
22	chr15:57953400-57955600	Enhancers	Fetal Lung	lung

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