Variant report

Variant	rs391315
Chromosome Location	chr1:220926085-220926086
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	chr1:220925438..220927343-chr1:220929690..220931741,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10779415	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10863562	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11118597	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11809755	0.84[AMR][1000 genomes]
rs12738691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12758783	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234223	0.88[EUR][1000 genomes]
rs2935225	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2994529	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2994530	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3015251	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3015252	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs337147	0.85[EUR][1000 genomes]
rs337148	0.85[EUR][1000 genomes]
rs337150	0.85[EUR][1000 genomes]
rs337156	0.84[EUR][1000 genomes]
rs337158	0.82[EUR][1000 genomes]
rs337159	0.84[EUR][1000 genomes]
rs337160	0.82[EUR][1000 genomes]
rs337161	0.82[EUR][1000 genomes]
rs337162	0.84[EUR][1000 genomes]
rs337164	0.92[EUR][1000 genomes]
rs337187	0.91[EUR][1000 genomes]
rs337189	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs337190	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs337191	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs365346	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs365398	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs365693	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3753878	0.83[AMR][1000 genomes]
rs3795536	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs381023	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs382959	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs386118	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs393585	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs421736	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs425473	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs439130	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs443071	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs443189	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6659246	0.84[AMR][1000 genomes]
rs6659604	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6697965	0.81[EUR][1000 genomes]
rs7518916	0.81[EUR][1000 genomes]
rs774138	0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754270	chr1:220850116-220929155	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs391315	MOSC2	Cis_1M	lymphoblastoid	RTeQTL
rs391315	C1orf115	cis	Nerve Tibial	GTEx
rs391315	C1orf115	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220922400-220932200	Weak transcription	HSMMtube	muscle
2	chr1:220922600-220927000	Weak transcription	Small Intestine	intestine
3	chr1:220922600-220928800	Weak transcription	Brain Substantia Nigra	brain
4	chr1:220922600-220929400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:220922600-220929400	Weak transcription	Esophagus	oesophagus
6	chr1:220922600-220931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:220922600-220943800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:220922600-220946400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:220922800-220929000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:220922800-220959600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:220922800-220959600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:220923200-220926600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:220923200-220927200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:220923200-220927400	Enhancers	Pancreas	Pancrea
15	chr1:220923200-220930400	Weak transcription	Spleen	Spleen
16	chr1:220923200-220948000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:220923400-220927000	Enhancers	Right Ventricle	heart
18	chr1:220923600-220926200	Enhancers	Psoas Muscle	Psoas
19	chr1:220923800-220928200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:220923800-220928200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:220923800-220928200	Weak transcription	Placenta	Placenta
22	chr1:220923800-220928400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:220924000-220927200	Weak transcription	NHLF	lung
24	chr1:220924000-220927400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr1:220924000-220927600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr1:220924000-220928400	Weak transcription	Aorta	Aorta
27	chr1:220924000-220928600	Weak transcription	A549	lung
28	chr1:220924200-220928200	Weak transcription	HUVEC	blood vessel
29	chr1:220924200-220929200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:220924200-220931000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:220924200-220936000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr1:220924400-220927800	Enhancers	Left Ventricle	heart
33	chr1:220924400-220928000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:220924400-220928400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:220924400-220928400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:220924600-220936800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:220924600-220944000	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:220924800-220927200	Enhancers	Fetal Lung	lung
39	chr1:220924800-220928000	Weak transcription	Fetal Stomach	stomach
40	chr1:220924800-220928400	Weak transcription	Brain Anterior Caudate	brain
41	chr1:220924800-220931200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr1:220924800-220945600	Weak transcription	Osteobl	bone
43	chr1:220925000-220927600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr1:220925000-220928400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:220925000-220928400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:220925000-220929000	Weak transcription	Brain Germinal Matrix	brain
47	chr1:220925000-220946000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr1:220925000-220959400	Weak transcription	Brain Angular Gyrus	brain
49	chr1:220925200-220926200	Enhancers	Fetal Intestine Large	intestine
50	chr1:220925200-220926600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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