Variant report

Variant	rs2205846
Chromosome Location	chr1:169765899-169765900
allele	A/G
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	chr1:169763165-169766289	K562	blood:	n/a	n/a
2	ATF2	chr1:169765317-169766029	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:169763181-169766127	GM12891	blood:	n/a	n/a
4	NFIC	chr1:169765313-169766031	GM12878	blood:	n/a	n/a
5	SPI1	chr1:169765774-169766161	GM12891	blood:	n/a	n/a
6	MTA3	chr1:169763206-169765978	GM12878	blood:	n/a	n/a
7	RUNX3	chr1:169765335-169766097	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:169763994..169765974-chr1:169862962..169865288,2	K562	blood:
2	chr1:169740651..169742605-chr1:169765835..169768295,2	MCF-7	breast:
3	chr1:169764521..169766056-chr1:169860447..169863119,2	MCF-7	breast:

Variant related genes	Relation type
METTL18	TF binding region
ENSG00000000457	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10489172	0.82[AFR][1000 genomes]
rs1062976	0.82[AFR][1000 genomes]
rs10919246	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10919250	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10919252	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10919255	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10919256	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10919258	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10919259	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576078	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12064636	0.88[AFR][1000 genomes]
rs12405525	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12410352	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12742961	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12760399	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17529513	0.86[AFR][1000 genomes]
rs17603022	0.82[AFR][1000 genomes]
rs2272917	0.93[ASN][1000 genomes]
rs2272918	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790399	0.83[ASN][1000 genomes]
rs3817858	0.93[ASN][1000 genomes]
rs6694855	0.82[AFR][1000 genomes]
rs67274208	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73026213	0.82[AFR][1000 genomes]
rs73026223	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[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
rs2205846	C1orf112	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169763000-169766400	Active TSS	GM12878-XiMat	blood
2	chr1:169764600-169782400	Weak transcription	Pancreas	Pancrea
3	chr1:169764800-169769000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:169764800-169793200	Weak transcription	Aorta	Aorta
5	chr1:169764800-169793200	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:169764800-169793400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:169764800-169795200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:169764800-169796200	Weak transcription	Spleen	Spleen
9	chr1:169764800-169818200	Weak transcription	Esophagus	oesophagus
10	chr1:169764800-169818200	Weak transcription	Lung	lung
11	chr1:169764800-169823600	Weak transcription	Gastric	stomach
12	chr1:169765000-169766200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:169765000-169776000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:169765000-169786000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:169765000-169793200	Weak transcription	Fetal Brain Male	brain
16	chr1:169765000-169808000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:169765000-169821800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:169765200-169766000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:169765200-169766200	Enhancers	Thymus	Thymus
20	chr1:169765200-169767200	Weak transcription	Fetal Stomach	stomach
21	chr1:169765200-169768000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:169765200-169768800	Weak transcription	Ovary	ovary
23	chr1:169765200-169771800	Weak transcription	Fetal Muscle Leg	muscle
24	chr1:169765200-169771800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr1:169765200-169772000	Weak transcription	Primary B cells from cord blood	blood
26	chr1:169765200-169772000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:169765200-169772000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:169765200-169772200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:169765200-169772200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:169765200-169772200	Weak transcription	Adipose Nuclei	Adipose
31	chr1:169765200-169772200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:169765200-169772600	Weak transcription	Placenta	Placenta
33	chr1:169765200-169772800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr1:169765200-169772800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr1:169765200-169772800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:169765200-169773000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr1:169765200-169774000	Weak transcription	Fetal Intestine Large	intestine
38	chr1:169765200-169774200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:169765200-169774200	Weak transcription	Left Ventricle	heart
40	chr1:169765200-169774400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:169765200-169774400	Weak transcription	HSMM	muscle
42	chr1:169765200-169776600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr1:169765200-169779600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:169765200-169781200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr1:169765200-169781600	Weak transcription	Brain Substantia Nigra	brain
46	chr1:169765200-169783200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr1:169765200-169793200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr1:169765200-169793200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:169765200-169793400	Weak transcription	Fetal Kidney	kidney
50	chr1:169765200-169797400	Weak transcription	HSMMtube	muscle

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