Variant report

Variant	rs670115
Chromosome Location	chr18:11885291-11885292
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	CTCF	chr18:11885200-11885350	HepG2	liver:	n/a	n/a
2	CTCF	chr18:11885160-11885310	Caco-2	colon:	n/a	n/a
3	HDAC2	chr18:11885280-11885646	HepG2	liver:	n/a	n/a
4	TEAD4	chr18:11885190-11885715	HepG2	liver:	n/a	n/a
5	HNF4G	chr18:11885191-11885589	HepG2	liver:	n/a	chr18:11885427-11885442
6	HNF4A	chr18:11885233-11885597	HepG2	liver:	n/a	chr18:11885428-11885443
7	HNF4G	chr18:11885289-11885587	HepG2	liver:	n/a	chr18:11885427-11885442

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11885013..11887914-chr18:11888832..11891708,3	K562	blood:

Variant related genes	Relation type
MPPE1	TF binding region
ENSG00000154889	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs659485	1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs669222	0.82[ASN][1000 genomes]
rs671365	1.00[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv909382	chr18:11870015-11892860	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11854800-11889200	Weak transcription	Fetal Brain Male	brain
2	chr18:11859000-11886400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr18:11861800-11887800	Weak transcription	Psoas Muscle	Psoas
4	chr18:11873000-11887400	Weak transcription	A549	lung
5	chr18:11873200-11902000	Weak transcription	Fetal Heart	heart
6	chr18:11875600-11886400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr18:11876800-11902600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr18:11877000-11886400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr18:11877000-11902400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr18:11878200-11886400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr18:11878200-11895000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr18:11878200-11902400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr18:11880000-11907600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr18:11880600-11891600	Strong transcription	Adipose Nuclei	Adipose
15	chr18:11880800-11886400	Weak transcription	Stomach Mucosa	stomach
16	chr18:11880800-11891000	Strong transcription	Primary T cells from cord blood	blood
17	chr18:11881200-11886400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr18:11881600-11898400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr18:11881800-11886600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr18:11881800-11906200	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr18:11882200-11889000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr18:11882400-11885600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr18:11882400-11907000	Weak transcription	Small Intestine	intestine
24	chr18:11882800-11891000	Strong transcription	Stomach Smooth Muscle	stomach
25	chr18:11882800-11895600	Weak transcription	NHDF-Ad	bronchial
26	chr18:11883000-11890800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr18:11883400-11897000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr18:11883600-11885600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr18:11883600-11886400	Weak transcription	Fetal Kidney	kidney
30	chr18:11883600-11893600	Weak transcription	HUVEC	blood vessel
31	chr18:11883600-11896800	Strong transcription	Fetal Intestine Small	intestine
32	chr18:11883600-11907000	Weak transcription	NH-A	brain
33	chr18:11883800-11885800	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr18:11883800-11886000	Strong transcription	Brain Anterior Caudate	brain
35	chr18:11883800-11887600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr18:11883800-11888400	Strong transcription	Ovary	ovary
37	chr18:11883800-11890600	Strong transcription	Left Ventricle	heart
38	chr18:11883800-11890800	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr18:11883800-11891000	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr18:11883800-11894200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr18:11883800-11898400	Strong transcription	Fetal Stomach	stomach
42	chr18:11884000-11885800	Strong transcription	Fetal Brain Female	brain
43	chr18:11884000-11885800	Genic enhancers	GM12878-XiMat	blood
44	chr18:11884000-11887400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr18:11884000-11887600	Strong transcription	Colon Smooth Muscle	Colon
46	chr18:11884000-11888600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr18:11884000-11889000	Strong transcription	Fetal Lung	lung
48	chr18:11884000-11889400	Strong transcription	Osteobl	bone
49	chr18:11884000-11890000	Strong transcription	Aorta	Aorta
50	chr18:11884000-11890800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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