Variant report

Variant	rs2901179
Chromosome Location	chr1:169767025-169767026
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:169766481-169767078	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169766093..169768334-chr1:169772109..169775699,3	K562	blood:
2	chr1:169740651..169742605-chr1:169765835..169768295,2	MCF-7	breast:

Variant related genes	Relation type
METTL18	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10737549	0.90[CHB][hapmap];0.92[ASN][1000 genomes]
rs10737550	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10737551	1.00[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10800479	0.95[ASN][1000 genomes]
rs10800480	0.95[CHB][hapmap];0.81[JPT][hapmap];0.95[ASN][1000 genomes]
rs10800481	0.95[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs10800483	0.90[CHB][hapmap];0.88[ASN][1000 genomes]
rs10800484	0.95[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10919245	0.94[ASN][1000 genomes]
rs10919248	0.95[CHB][hapmap];0.81[JPT][hapmap];0.95[ASN][1000 genomes]
rs10919251	0.93[ASN][1000 genomes]
rs10919257	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10919263	0.84[ASN][1000 genomes]
rs12047487	0.85[EUR][1000 genomes]
rs12133843	0.95[CHB][hapmap];0.89[ASN][1000 genomes]
rs12724797	1.00[YRI][hapmap]
rs1883436	0.88[ASN][1000 genomes]
rs2056981	0.95[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2143122	0.99[EUR][1000 genomes]
rs2179396	0.95[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs2281039	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2294322	0.95[ASN][1000 genomes]
rs2294496	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2420512	0.89[ASN][1000 genomes]
rs2420514	1.00[YRI][hapmap]
rs2806386	1.00[YRI][hapmap]
rs3766132	0.95[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3766134	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3766137	0.95[CHB][hapmap];0.81[JPT][hapmap];0.95[ASN][1000 genomes]
rs3766142	0.95[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3766144	0.90[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3766148	0.95[CHB][hapmap];0.89[ASN][1000 genomes]
rs3766151	0.90[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs3766154	0.84[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs3766155	0.91[EUR][1000 genomes]
rs4376791	0.89[ASN][1000 genomes]
rs4508080	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs4614317	0.95[CHB][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs4615900	0.95[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4656196	0.95[CHB][hapmap];0.81[JPT][hapmap];0.95[ASN][1000 genomes]
rs4656197	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4656199	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4656200	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4656721	0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4656724	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4656725	0.88[ASN][1000 genomes]
rs6427220	0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6427224	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6427225	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs6427226	0.90[CHB][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6427227	0.91[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6427228	0.81[ASN][1000 genomes]
rs6656965	0.88[ASN][1000 genomes]
rs6664099	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6668114	0.95[CHB][hapmap];0.88[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6669794	0.88[ASN][1000 genomes]
rs6670818	1.00[YRI][hapmap]
rs6671752	0.81[ASN][1000 genomes]
rs6680650	0.95[ASN][1000 genomes]
rs6680938	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6682137	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6682835	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs6683056	0.84[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs6684481	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6687377	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6702969	0.84[ASN][1000 genomes]
rs717481	0.89[ASN][1000 genomes]
rs732185	0.90[CHB][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs7519364	0.83[ASN][1000 genomes]
rs7521700	0.90[EUR][1000 genomes]
rs7525259	0.95[CHB][hapmap];0.89[ASN][1000 genomes]
rs7530237	0.95[CHB][hapmap];0.89[ASN][1000 genomes]
rs7545011	0.94[ASN][1000 genomes]
rs9287097	0.95[CHB][hapmap];0.89[ASN][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	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2901179	C1orf112	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169764600-169782400	Weak transcription	Pancreas	Pancrea
2	chr1:169764800-169769000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:169764800-169793200	Weak transcription	Aorta	Aorta
4	chr1:169764800-169793200	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:169764800-169793400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:169764800-169795200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:169764800-169796200	Weak transcription	Spleen	Spleen
8	chr1:169764800-169818200	Weak transcription	Esophagus	oesophagus
9	chr1:169764800-169818200	Weak transcription	Lung	lung
10	chr1:169764800-169823600	Weak transcription	Gastric	stomach
11	chr1:169765000-169776000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:169765000-169786000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:169765000-169793200	Weak transcription	Fetal Brain Male	brain
14	chr1:169765000-169808000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:169765000-169821800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:169765200-169767200	Weak transcription	Fetal Stomach	stomach
17	chr1:169765200-169768000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr1:169765200-169768800	Weak transcription	Ovary	ovary
19	chr1:169765200-169771800	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:169765200-169771800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr1:169765200-169772000	Weak transcription	Primary B cells from cord blood	blood
22	chr1:169765200-169772000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:169765200-169772000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:169765200-169772200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:169765200-169772200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:169765200-169772200	Weak transcription	Adipose Nuclei	Adipose
27	chr1:169765200-169772200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:169765200-169772600	Weak transcription	Placenta	Placenta
29	chr1:169765200-169772800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr1:169765200-169772800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:169765200-169772800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:169765200-169773000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr1:169765200-169774000	Weak transcription	Fetal Intestine Large	intestine
34	chr1:169765200-169774200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:169765200-169774200	Weak transcription	Left Ventricle	heart
36	chr1:169765200-169774400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:169765200-169774400	Weak transcription	HSMM	muscle
38	chr1:169765200-169776600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr1:169765200-169779600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:169765200-169781200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr1:169765200-169781600	Weak transcription	Brain Substantia Nigra	brain
42	chr1:169765200-169783200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr1:169765200-169793200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr1:169765200-169793200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:169765200-169793400	Weak transcription	Fetal Kidney	kidney
46	chr1:169765200-169797400	Weak transcription	HSMMtube	muscle
47	chr1:169765200-169802000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:169765200-169807800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:169765200-169808000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:169765200-169809000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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