Variant report

Variant	rs6463008
Chromosome Location	chr7:41173925-41173926
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10227446	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10227663	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10256962	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10258940	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10274211	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10279346	0.80[ASN][1000 genomes]
rs13222193	0.95[CHB][hapmap]
rs13222281	0.95[CHB][hapmap];0.87[CHD][hapmap]
rs13234888	0.95[CHB][hapmap]
rs13246656	0.81[ASN][1000 genomes]
rs1859692	0.86[ASN][1000 genomes]
rs1859693	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1859694	0.88[ASN][1000 genomes]
rs2108156	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2108157	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2190329	0.86[ASN][1000 genomes]
rs28238	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28314	0.91[EUR][1000 genomes]
rs28880	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs29476	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs29477	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs29478	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs29479	0.87[ASN][1000 genomes]
rs29480	0.87[ASN][1000 genomes]
rs29481	0.86[ASN][1000 genomes]
rs29482	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs29483	0.86[EUR][1000 genomes]
rs29485	0.93[EUR][1000 genomes]
rs29486	0.93[EUR][1000 genomes]
rs29488	0.93[EUR][1000 genomes]
rs29489	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs29490	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs29493	0.91[EUR][1000 genomes]
rs29494	0.90[EUR][1000 genomes]
rs29495	0.91[EUR][1000 genomes]
rs29496	0.91[EUR][1000 genomes]
rs29497	0.91[EUR][1000 genomes]
rs29498	0.91[EUR][1000 genomes]
rs29499	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs29500	0.91[EUR][1000 genomes]
rs29501	0.91[EUR][1000 genomes]
rs29502	0.91[EUR][1000 genomes]
rs29503	0.85[ASN][1000 genomes]
rs29504	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs29505	0.91[EUR][1000 genomes]
rs29506	0.91[EUR][1000 genomes]
rs29512	0.91[EUR][1000 genomes]
rs29513	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs29514	0.85[EUR][1000 genomes]
rs29515	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs29516	0.80[ASN][1000 genomes]
rs29517	0.80[ASN][1000 genomes]
rs29518	0.90[EUR][1000 genomes]
rs29521	0.90[EUR][1000 genomes]
rs29525	0.90[EUR][1000 genomes]
rs29526	0.90[EUR][1000 genomes]
rs4720399	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4724027	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs4724029	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6463004	0.87[ASN][1000 genomes]
rs6463005	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6463006	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6463007	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6945256	0.85[ASN][1000 genomes]
rs6945901	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6946898	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6947021	0.86[ASN][1000 genomes]
rs6951425	0.96[CEU][hapmap]
rs6958423	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6958959	0.86[ASN][1000 genomes]
rs6971196	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6971616	0.82[ASN][1000 genomes]
rs6975061	0.84[ASN][1000 genomes]
rs6978132	0.86[ASN][1000 genomes]
rs7790556	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7805795	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9632614	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034605	chr7:41096638-41222426	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv887989	chr7:41125447-41337044	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1028983	chr7:41165668-41635954	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6463008	MYO1G	cis	parietal	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:41129200-41175200	Weak transcription	Aorta	Aorta
2	chr7:41167600-41174400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:41168200-41175600	Enhancers	Fetal Brain Male	brain
4	chr7:41169000-41175400	Enhancers	Fetal Brain Female	brain
5	chr7:41169800-41175200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:41170000-41174400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:41170600-41175200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:41171400-41175400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr7:41172800-41174400	Enhancers	GM12878-XiMat	blood
10	chr7:41173200-41174200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:41173200-41174200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:41173400-41174000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:41173400-41174200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:41173400-41174200	Enhancers	Fetal Heart	heart
15	chr7:41173400-41174200	Enhancers	Fetal Muscle Leg	muscle
16	chr7:41173400-41174400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr7:41173400-41174400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:41173400-41174400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr7:41173400-41174600	Enhancers	Osteobl	bone
20	chr7:41173400-41174800	Enhancers	Hela-S3	cervix
21	chr7:41173400-41174800	Enhancers	NHEK	skin
22	chr7:41173400-41175000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:41173400-41175200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr7:41173400-41175400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:41173400-41175800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:41173600-41174000	Enhancers	Right Atrium	heart
27	chr7:41173600-41174400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:41173600-41174400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:41173600-41174400	Enhancers	HSMM	muscle
30	chr7:41173600-41174400	Enhancers	NHLF	lung
31	chr7:41173600-41174600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:41173600-41174800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:41173600-41174800	Enhancers	NH-A	brain
34	chr7:41173600-41174800	Enhancers	NHDF-Ad	bronchial
35	chr7:41173600-41175200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr7:41173600-41175600	Enhancers	HMEC	breast
37	chr7:41173800-41174000	Enhancers	Esophagus	oesophagus
38	chr7:41173800-41174200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr7:41173800-41174200	Enhancers	Primary hematopoietic stem cells	blood
40	chr7:41173800-41174200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:41173800-41174400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr7:41173800-41174400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:41173800-41174400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:41173800-41174600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr7:41173800-41174800	Enhancers	HSMMtube	muscle

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