Variant report

Variant	rs337187
Chromosome Location	chr1:220922973-220922974
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220862132..220866220-chr1:220920879..220923309,4	MCF-7	breast:
2	chr1:220920704..220923005-chr1:220929506..220932087,2	MCF-7	breast:
3	chr1:220921708..220923550-chr1:220934385..220936474,2	MCF-7	breast:
4	chr1:220920532..220923272-chr1:220926936..220929369,4	MCF-7	breast:
5	chr1:220922191..220924696-chr1:220926273..220928216,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162817	Chromatin interaction
ENSG00000117791	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10779415	0.84[EUR][1000 genomes]
rs10863562	0.85[EUR][1000 genomes]
rs11118597	0.84[EUR][1000 genomes]
rs12738691	0.91[EUR][1000 genomes]
rs12758783	0.91[EUR][1000 genomes]
rs189231	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs234223	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2935225	0.89[EUR][1000 genomes]
rs2994529	0.85[EUR][1000 genomes]
rs2994530	0.86[EUR][1000 genomes]
rs3015251	0.87[EUR][1000 genomes]
rs3015252	0.89[EUR][1000 genomes]
rs337156	0.81[EUR][1000 genomes]
rs337158	0.82[EUR][1000 genomes]
rs337159	0.81[EUR][1000 genomes]
rs337160	0.82[EUR][1000 genomes]
rs337161	0.82[EUR][1000 genomes]
rs337162	0.81[EUR][1000 genomes]
rs337164	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs337189	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs337190	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs337191	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs365346	0.91[EUR][1000 genomes]
rs365398	0.82[EUR][1000 genomes]
rs365693	0.91[EUR][1000 genomes]
rs3795536	0.84[EUR][1000 genomes]
rs381023	0.84[EUR][1000 genomes]
rs382959	0.91[EUR][1000 genomes]
rs386118	0.89[EUR][1000 genomes]
rs391315	0.91[EUR][1000 genomes]
rs393585	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs421736	0.82[EUR][1000 genomes]
rs425473	0.82[EUR][1000 genomes]
rs439130	0.89[EUR][1000 genomes]
rs443071	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs443189	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6659604	0.84[EUR][1000 genomes]
rs774138	0.88[AMR][1000 genomes];0.93[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs337187	MOSC2	Cis_1M	lymphoblastoid	RTeQTL
rs337187	C1orf115	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220920800-220924000	Active TSS	Brain Anterior Caudate	brain
2	chr1:220920800-220924000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr1:220920800-220924200	Active TSS	Brain Angular Gyrus	brain
4	chr1:220921000-220923600	Active TSS	Right Atrium	heart
5	chr1:220921200-220923000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr1:220921200-220923000	Active TSS	Fetal Heart	heart
7	chr1:220921200-220923000	Active TSS	Fetal Intestine Large	intestine
8	chr1:220921200-220923600	Active TSS	Rectal Smooth Muscle	rectum
9	chr1:220921200-220924000	Active TSS	Aorta	Aorta
10	chr1:220921400-220923000	Active TSS	Fetal Lung	lung
11	chr1:220921400-220923800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:220921400-220924200	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr1:220921400-220924800	Active TSS	Fetal Intestine Small	intestine
14	chr1:220921600-220923600	Active TSS	Duodenum Mucosa	Duodenum
15	chr1:220922000-220924200	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr1:220922200-220923200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr1:220922400-220923000	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr1:220922400-220923200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:220922400-220924200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr1:220922400-220924200	Flanking Active TSS	Hela-S3	cervix
21	chr1:220922400-220932200	Weak transcription	HSMMtube	muscle
22	chr1:220922600-220923000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:220922600-220923000	Active TSS	Liver	Liver
24	chr1:220922600-220923000	Weak transcription	Spleen	Spleen
25	chr1:220922600-220923400	Enhancers	NHLF	lung
26	chr1:220922600-220923600	Weak transcription	Brain Germinal Matrix	brain
27	chr1:220922600-220923800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:220922600-220923800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:220922600-220923800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:220922600-220923800	Enhancers	Placenta	Placenta
31	chr1:220922600-220924400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:220922600-220924400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:220922600-220925200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr1:220922600-220925200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:220922600-220925400	Weak transcription	Gastric	stomach
36	chr1:220922600-220927000	Weak transcription	Small Intestine	intestine
37	chr1:220922600-220928800	Weak transcription	Brain Substantia Nigra	brain
38	chr1:220922600-220929400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:220922600-220929400	Weak transcription	Esophagus	oesophagus
40	chr1:220922600-220931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:220922600-220943800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:220922600-220946400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:220922800-220923000	Enhancers	Colonic Mucosa	Colon
44	chr1:220922800-220923000	Enhancers	Pancreas	Pancrea
45	chr1:220922800-220923000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr1:220922800-220923000	Active TSS	HepG2	liver
47	chr1:220922800-220923200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:220922800-220923200	Enhancers	Brain Cingulate Gyrus	brain
49	chr1:220922800-220923200	Enhancers	Fetal Muscle Trunk	muscle
50	chr1:220922800-220923200	Enhancers	Left Ventricle	heart

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