Variant report

Variant	rs9548893
Chromosome Location	chr13:40286080-40286081
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs3812882	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3812883	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3812884	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3812885	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3812886	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3812887	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3812888	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4245396	0.80[EUR][1000 genomes]
rs4278626	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4312180	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4384490	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4408422	0.82[ASN][1000 genomes]
rs4415900	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4941936	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4941937	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4941938	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4941939	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4941941	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4943686	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4943687	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4943691	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4943694	0.80[EUR][1000 genomes]
rs6563732	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67976778	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7325068	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7327779	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7332791	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7335799	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7984958	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9315725	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9532410	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9532411	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9532412	0.91[ASN][1000 genomes]
rs9532413	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9532414	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9532420	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9548865	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9548866	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9548867	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9548868	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9548869	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9548870	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9548875	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9548880	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9548894	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9548896	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9548901	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9566471	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9566472	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9576874	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9576875	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9576881	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9576882	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1054797	chr13:40198744-40618428	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
3	nsv541755	chr13:40198744-40618428	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
4	nsv832586	chr13:40222880-40379063	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1040458	chr13:40249387-40638129	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv471130	chr13:40261945-40350912	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9548893	COG6	cis	Muscle Skeletal	GTEx
rs9548893	COG6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40233000-40295600	Weak transcription	Pancreas	Pancrea
2	chr13:40238000-40291600	Weak transcription	Fetal Intestine Small	intestine
3	chr13:40246400-40297400	Weak transcription	HUVEC	blood vessel
4	chr13:40255000-40291200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:40255000-40306000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr13:40255200-40291000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:40255800-40340200	Weak transcription	Psoas Muscle	Psoas
8	chr13:40257600-40310800	Weak transcription	Brain Germinal Matrix	brain
9	chr13:40258200-40289800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:40262600-40294000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr13:40262800-40286800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr13:40262800-40287200	Weak transcription	Fetal Muscle Leg	muscle
13	chr13:40262800-40291600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:40262800-40291600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr13:40262800-40291800	Weak transcription	Left Ventricle	heart
16	chr13:40262800-40293600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr13:40262800-40311000	Weak transcription	Aorta	Aorta
18	chr13:40262800-40311000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr13:40263000-40288600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr13:40263000-40297200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr13:40263200-40288600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr13:40263200-40290600	Weak transcription	Primary B cells from cord blood	blood
23	chr13:40263200-40302600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr13:40263400-40291000	Weak transcription	Fetal Heart	heart
25	chr13:40263400-40293400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr13:40263400-40293800	Weak transcription	Dnd41	blood
27	chr13:40263600-40286600	Weak transcription	Fetal Brain Female	brain
28	chr13:40263600-40291600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr13:40264600-40289600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr13:40264600-40293800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:40267000-40297400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr13:40267200-40286800	Weak transcription	NHLF	lung
33	chr13:40267200-40290800	Weak transcription	Fetal Lung	lung
34	chr13:40267200-40293400	Weak transcription	NHDF-Ad	bronchial
35	chr13:40267200-40296800	Weak transcription	Brain Hippocampus Middle	brain
36	chr13:40267200-40296800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr13:40267200-40297000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr13:40267600-40341200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr13:40269200-40293400	Weak transcription	NH-A	brain
40	chr13:40269600-40291600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr13:40269800-40288800	Weak transcription	Placenta	Placenta
42	chr13:40269800-40289000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr13:40270000-40286400	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr13:40271800-40286600	Weak transcription	Adipose Nuclei	Adipose
45	chr13:40272000-40289400	Weak transcription	Fetal Intestine Large	intestine
46	chr13:40272000-40294400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr13:40272000-40297400	Weak transcription	Ovary	ovary
48	chr13:40272200-40288600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr13:40272200-40289000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr13:40272200-40293400	Weak transcription	Osteobl	bone

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