Variant report

Variant	rs386118
Chromosome Location	chr1:220927115-220927116
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220922191..220924696-chr1:220926273..220928216,2	MCF-7	breast:
2	chr1:220925438..220927343-chr1:220929690..220931741,2	K562	blood:
3	chr1:220926710..220928570-chr1:220929149..220931113,2	MCF-7	breast:
4	chr1:220920532..220923272-chr1:220926936..220929369,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117791	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10779415	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10863562	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11118597	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11118599	0.82[EUR][1000 genomes]
rs11809755	0.84[AMR][1000 genomes]
rs12562235	0.81[EUR][1000 genomes]
rs12568838	0.81[EUR][1000 genomes]
rs12738691	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12758783	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs234223	0.86[EUR][1000 genomes]
rs2935225	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2994529	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2994530	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3015251	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3015252	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs337147	0.86[EUR][1000 genomes]
rs337148	0.86[EUR][1000 genomes]
rs337150	0.86[EUR][1000 genomes]
rs337156	0.82[EUR][1000 genomes]
rs337158	0.81[EUR][1000 genomes]
rs337159	0.82[EUR][1000 genomes]
rs337160	0.81[EUR][1000 genomes]
rs337161	0.81[EUR][1000 genomes]
rs337162	0.82[EUR][1000 genomes]
rs337164	0.90[EUR][1000 genomes]
rs337187	0.89[EUR][1000 genomes]
rs337189	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs337190	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs337191	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs365346	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs365398	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs365693	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3753878	0.83[AMR][1000 genomes]
rs3795536	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs381023	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs382959	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs391315	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];0.96[EUR][1000 genomes];0.83[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs443071	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs443189	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6659246	0.84[AMR][1000 genomes]
rs6659604	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6697965	0.82[EUR][1000 genomes]
rs7518916	0.82[EUR][1000 genomes]
rs7519399	0.82[EUR][1000 genomes]
rs7519414	0.82[EUR][1000 genomes]
rs7542723	0.82[EUR][1000 genomes]
rs7553948	0.80[EUR][1000 genomes]
rs7556458	0.82[EUR][1000 genomes]
rs774138	0.89[EUR][1000 genomes]

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	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
2	nsv523389	chr1:220926844-220956012	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs386118	C1orf115	Cis_1M	lymphoblastoid	RTeQTL
rs386118	MOSC2	Cis_1M	lymphoblastoid	RTeQTL
rs386118	C1orf115	cis	Nerve Tibial	GTEx
rs386118	C1orf115	cis	multi-tissue	Pritchard

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	chr1:220922600-220928800	Weak transcription	Brain Substantia Nigra	brain
3	chr1:220922600-220929400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:220922600-220929400	Weak transcription	Esophagus	oesophagus
5	chr1:220922600-220931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:220922600-220943800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:220922600-220946400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:220922800-220929000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:220922800-220959600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:220922800-220959600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:220923200-220927200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:220923200-220927400	Enhancers	Pancreas	Pancrea
13	chr1:220923200-220930400	Weak transcription	Spleen	Spleen
14	chr1:220923200-220948000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:220923800-220928200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:220923800-220928200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:220923800-220928200	Weak transcription	Placenta	Placenta
18	chr1:220923800-220928400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:220924000-220927200	Weak transcription	NHLF	lung
20	chr1:220924000-220927400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr1:220924000-220927600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr1:220924000-220928400	Weak transcription	Aorta	Aorta
23	chr1:220924000-220928600	Weak transcription	A549	lung
24	chr1:220924200-220928200	Weak transcription	HUVEC	blood vessel
25	chr1:220924200-220929200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:220924200-220931000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:220924200-220936000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:220924400-220927800	Enhancers	Left Ventricle	heart
29	chr1:220924400-220928000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:220924400-220928400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:220924400-220928400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:220924600-220936800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:220924600-220944000	Weak transcription	Brain Hippocampus Middle	brain
34	chr1:220924800-220927200	Enhancers	Fetal Lung	lung
35	chr1:220924800-220928000	Weak transcription	Fetal Stomach	stomach
36	chr1:220924800-220928400	Weak transcription	Brain Anterior Caudate	brain
37	chr1:220924800-220931200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr1:220924800-220945600	Weak transcription	Osteobl	bone
39	chr1:220925000-220927600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:220925000-220928400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:220925000-220928400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:220925000-220929000	Weak transcription	Brain Germinal Matrix	brain
43	chr1:220925000-220946000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:220925000-220959400	Weak transcription	Brain Angular Gyrus	brain
45	chr1:220925200-220927200	Weak transcription	Stomach Mucosa	stomach
46	chr1:220925200-220927800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:220925200-220928000	Weak transcription	Colonic Mucosa	Colon
48	chr1:220925200-220928200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:220925200-220928400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:220925200-220928400	Weak transcription	Rectal Mucosa Donor 31	rectum

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