Variant report

Variant	rs113726622
Chromosome Location	chr18:45455913-45455914
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45422809..45427886-chr18:45455832..45459212,8	MCF-7	breast:
2	chr18:45445551..45451271-chr18:45453158..45456977,7	K562	blood:
3	chr18:45412211..45417305-chr18:45454331..45458060,5	MCF-7	breast:
4	chr18:45419311..45422107-chr18:45455091..45458226,3	K562	blood:
5	chr18:45455170..45457899-chr18:45935970..45938603,2	K562	blood:

Variant related genes	Relation type
ENSG00000184828	Chromatin interaction
ENSG00000175387	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv909614	chr18:45419421-45478490	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv909615	chr18:45452321-45493026	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv3446751	chr18:45455904-45459152	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45439000-45456200	Weak transcription	Esophagus	oesophagus
2	chr18:45439000-45456200	Weak transcription	Spleen	Spleen
3	chr18:45439800-45456200	Weak transcription	Pancreas	Pancrea
4	chr18:45443000-45456000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:45444800-45456000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr18:45444800-45456000	Weak transcription	Lung	lung
7	chr18:45447600-45456000	Weak transcription	Left Ventricle	heart
8	chr18:45450000-45456200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr18:45451600-45456000	Enhancers	Fetal Heart	heart
10	chr18:45452000-45456000	Enhancers	Brain Hippocampus Middle	brain
11	chr18:45452200-45456000	Enhancers	Brain Substantia Nigra	brain
12	chr18:45452400-45456000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr18:45452600-45456000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr18:45452800-45456000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr18:45453600-45456000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr18:45453600-45458200	Active TSS	GM12878-XiMat	blood
17	chr18:45453800-45456200	Weak transcription	Gastric	stomach
18	chr18:45454000-45456000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr18:45454000-45456000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr18:45454400-45456000	Enhancers	Brain Cingulate Gyrus	brain
21	chr18:45454400-45456200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr18:45454400-45456400	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr18:45454400-45456400	Flanking Active TSS	Dnd41	blood
24	chr18:45454600-45456000	Enhancers	Primary B cells from peripheral blood	blood
25	chr18:45454600-45456200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr18:45454600-45456200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr18:45454600-45456400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr18:45454600-45456400	Flanking Active TSS	HUVEC	blood vessel
29	chr18:45454600-45458000	Active TSS	Ovary	ovary
30	chr18:45454600-45458200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr18:45454600-45458400	Active TSS	H1 Cell Line	embryonic stem cell
32	chr18:45454600-45458400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr18:45454600-45458600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr18:45454600-45458600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr18:45454800-45456000	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr18:45454800-45456200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr18:45454800-45456400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr18:45454800-45456400	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr18:45454800-45456400	Flanking Active TSS	Fetal Lung	lung
40	chr18:45454800-45456400	Active TSS	Right Atrium	heart
41	chr18:45454800-45456400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr18:45454800-45457800	Active TSS	Hela-S3	cervix
43	chr18:45454800-45458000	Active TSS	HMEC	breast
44	chr18:45454800-45458200	Active TSS	H9 Cell Line	embryonic stem cell
45	chr18:45454800-45458200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr18:45454800-45458200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr18:45454800-45458200	Active TSS	Stomach Smooth Muscle	stomach
48	chr18:45454800-45458400	Active TSS	NHLF	lung
49	chr18:45454800-45458600	Active TSS	K562	blood
50	chr18:45455000-45456000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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