Variant report

Variant	rs2111718
Chromosome Location	chr2:172288337-172288338
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:172288163-172288771	GM12891	blood:	n/a	n/a
2	POLR2A	chr2:172287924-172288635	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:172288109-172288580	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:172287448-172288749	GM12891	blood:	n/a	n/a
5	POLR2A	chr2:172288296-172288393	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:171784160..171787954-chr2:172288133..172292253,10	K562	blood:
2	chr2:172287317..172289847-chr2:172289909..172292066,2	MCF-7	breast:
3	chr2:172013226..172020125-chr2:172287594..172292844,18	MCF-7	breast:
4	chr2:172013756..172019540-chr2:172285624..172293532,16	K562	blood:
5	chr2:172287467..172293160-chr2:172293206..172300397,21	K562	blood:
6	chr2:171783791..171787349-chr2:172286549..172291928,9	K562	blood:
7	chr2:172267095..172269091-chr2:172287123..172288853,2	K562	blood:
8	chr2:172272632..172275850-chr2:172285670..172289133,3	K562	blood:
9	chr2:172287753..172291848-chr2:172543733..172546489,4	K562	blood:

No data

Variant related genes	Relation type
DCAF17	TF binding region
ENSG00000123600	Chromatin interaction
ENSG00000115806	Chromatin interaction
ENSG00000115827	Chromatin interaction
ENSG00000198586	Chromatin interaction
ENSG00000077380	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10445762	1.00[ASW][hapmap];0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10515933	0.85[TSI][hapmap]
rs17220419	0.85[TSI][hapmap]
rs17220734	0.85[TSI][hapmap]
rs17285541	1.00[ASW][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.84[TSI][hapmap]
rs17286415	0.85[TSI][hapmap]
rs2160849	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3731982	0.85[TSI][hapmap]
rs3731983	0.85[TSI][hapmap]
rs3795998	0.85[TSI][hapmap]
rs3821084	0.85[TSI][hapmap]
rs4522571	0.85[TSI][hapmap]
rs4668387	0.85[TSI][hapmap]
rs62183465	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7562674	0.81[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs9789572	0.85[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv3349868	chr2:172276494-172302401	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2111718	METTL8	cis	Esophagus Muscularis	GTEx

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172222200-172289600	Weak transcription	Gastric	stomach
2	chr2:172266400-172289600	Weak transcription	Psoas Muscle	Psoas
3	chr2:172266400-172289600	Weak transcription	Right Ventricle	heart
4	chr2:172268800-172289200	Weak transcription	HSMM	muscle
5	chr2:172272600-172289000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:172272600-172289400	Weak transcription	HSMMtube	muscle
7	chr2:172278000-172288600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:172278200-172289600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:172280600-172289600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:172281000-172289600	Weak transcription	Left Ventricle	heart
11	chr2:172281000-172289600	Weak transcription	Right Atrium	heart
12	chr2:172281000-172290200	Weak transcription	Aorta	Aorta
13	chr2:172281200-172290000	Weak transcription	Ovary	ovary
14	chr2:172281600-172289400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr2:172282200-172288400	Weak transcription	Fetal Lung	lung
16	chr2:172282200-172288600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:172282200-172288800	Weak transcription	NHLF	lung
18	chr2:172282200-172289200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:172282200-172289200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:172285600-172289200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:172285800-172289400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:172286000-172289600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr2:172286200-172289600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:172286400-172288600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr2:172286600-172289000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:172286800-172288600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
27	chr2:172286800-172288600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
28	chr2:172287000-172288800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr2:172287000-172288800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:172287000-172288800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr2:172287200-172288400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:172287200-172288400	ZNF genes & repeats	Dnd41	blood
33	chr2:172287200-172288600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:172287200-172288600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr2:172287200-172289400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr2:172287200-172289400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:172287200-172289600	Enhancers	Rectal Smooth Muscle	rectum
38	chr2:172287200-172289800	Flanking Active TSS	NHEK	skin
39	chr2:172287400-172288400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:172287400-172288400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:172287400-172288400	Enhancers	Colon Smooth Muscle	Colon
42	chr2:172287400-172288800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:172287400-172288800	Enhancers	Esophagus	oesophagus
44	chr2:172287400-172289000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr2:172287400-172289200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:172287400-172289600	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr2:172287600-172288600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:172287600-172288800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:172287600-172288800	Enhancers	A549	lung
50	chr2:172287600-172289400	Enhancers	H9 Cell Line	embryonic stem cell

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