Variant report

Variant	rs11726194
Chromosome Location	chr4:69213711-69213712
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:69211727..69213859-chr4:69233011..69234860,2	MCF-7	breast:
2	chr4:69212970..69215845-chr4:69239349..69242311,2	MCF-7	breast:
3	chr4:69188150..69190673-chr4:69212848..69214663,2	K562	blood:
4	chr4:69212213..69214534-chr4:69225131..69226946,2	MCF-7	breast:
5	chr4:69213512..69216500-chr4:69770884..69773457,2	MCF-7	breast:
6	chr4:69211043..69213753-chr4:69341284..69343236,2	K562	blood:
7	chr4:69201801..69210708-chr4:69210917..69216982,18	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162840	Chromatin interaction
ENSG00000083896	Chromatin interaction
ENSG00000272626	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10033058	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11727878	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13124352	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13130430	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1406694	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17089267	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1715080	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1715081	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1730873	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1919898	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2293595	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2319888	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2319891	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs28656921	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34419508	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34452677	0.85[ASN][1000 genomes]
rs34500620	0.85[ASN][1000 genomes]
rs35632454	0.85[ASN][1000 genomes]
rs36098059	0.85[ASN][1000 genomes]
rs3797008	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4428356	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4860929	0.85[ASN][1000 genomes]
rs57105149	0.82[ASN][1000 genomes]
rs57643586	0.81[ASN][1000 genomes]
rs58108365	0.81[ASN][1000 genomes]
rs62316045	0.81[ASN][1000 genomes]
rs6812178	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7666993	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008084	chr4:68797598-69482831	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv537131	chr4:68797598-69482831	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1806586	chr4:68943858-69592846	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv461546	chr4:69049643-69223057	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv594506	chr4:69049643-69223057	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv537132	chr4:69149648-69482831	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv2757061	chr4:69178920-69631668	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv437385	chr4:69204755-69383357	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11726194	YTHDC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69189200-69214400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:69199000-69213800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:69203600-69214000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr4:69204400-69213800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:69204600-69214600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:69208200-69213800	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:69209600-69214200	Enhancers	Primary B cells from peripheral blood	blood
8	chr4:69211000-69216000	Active TSS	GM12878-XiMat	blood
9	chr4:69211800-69214200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr4:69212000-69214000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr4:69212000-69214200	Weak transcription	Esophagus	oesophagus
12	chr4:69212200-69213800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr4:69212200-69214200	Weak transcription	Left Ventricle	heart
14	chr4:69212200-69214200	Weak transcription	Lung	lung
15	chr4:69212200-69214200	Weak transcription	Pancreas	Pancrea
16	chr4:69212200-69214600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr4:69212200-69214600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:69212200-69214800	Weak transcription	Spleen	Spleen
19	chr4:69212200-69215000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:69212200-69216400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:69212400-69213800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr4:69212400-69213800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr4:69212400-69214600	Weak transcription	Gastric	stomach
24	chr4:69212400-69215800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:69212400-69216400	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr4:69212600-69214200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:69212600-69214200	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr4:69212600-69214800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr4:69212600-69214800	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr4:69212600-69215000	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr4:69212600-69216000	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr4:69212600-69216000	Active TSS	Fetal Intestine Large	intestine
33	chr4:69212600-69216400	Active TSS	Brain Germinal Matrix	brain
34	chr4:69212600-69216400	Active TSS	Fetal Kidney	kidney
35	chr4:69212800-69213800	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr4:69212800-69214200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:69212800-69214200	Flanking Active TSS	Brain Angular Gyrus	brain
38	chr4:69212800-69214400	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr4:69212800-69214400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:69212800-69214800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr4:69212800-69214800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:69212800-69214800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:69212800-69216000	Active TSS	NHEK	skin
44	chr4:69212800-69216200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr4:69212800-69216200	Active TSS	H1 Cell Line	embryonic stem cell
46	chr4:69212800-69216200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:69212800-69216200	Active TSS	Aorta	Aorta
48	chr4:69212800-69216200	Active TSS	Right Ventricle	heart
49	chr4:69212800-69216400	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr4:69213000-69213800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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