Variant report

Variant	rs8094938
Chromosome Location	chr18:44489963-44489964
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44488075..44490249-chr18:44496813..44499050,3	MCF-7	breast:
2	chr18:44488852..44491719-chr18:44494617..44499861,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078043	Chromatin interaction
ENSG00000167216	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs7226950	1.00[AFR][1000 genomes]
rs7235236	0.89[AFR][1000 genomes]
rs7241061	1.00[AFR][1000 genomes]
rs7244181	1.00[AFR][1000 genomes]
rs7244979	1.00[AFR][1000 genomes]
rs8083773	0.85[AFR][1000 genomes]
rs8085090	0.89[AFR][1000 genomes]
rs8086295	1.00[AFR][1000 genomes]
rs8089414	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2763189	chr18:44415779-44515384	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1059378	chr18:44431832-44509052	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv522397	chr18:44451644-44516088	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv576813	chr18:44481641-44531283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44469800-44493600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr18:44469800-44493800	Weak transcription	Lung	lung
3	chr18:44469800-44494600	Weak transcription	Fetal Brain Male	brain
4	chr18:44469800-44495200	Weak transcription	Hela-S3	cervix
5	chr18:44469800-44495400	Weak transcription	Brain Anterior Caudate	brain
6	chr18:44469800-44496000	Weak transcription	HSMMtube	muscle
7	chr18:44469800-44496400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr18:44470600-44493000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr18:44470600-44495600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr18:44470800-44493200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr18:44470800-44495200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr18:44470800-44495600	Weak transcription	Thymus	Thymus
13	chr18:44470800-44495800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr18:44470800-44495800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr18:44470800-44495800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr18:44471000-44495400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr18:44471000-44495400	Weak transcription	Fetal Thymus	thymus
18	chr18:44471000-44495600	Weak transcription	HUVEC	blood vessel
19	chr18:44471000-44495800	Weak transcription	HSMM	muscle
20	chr18:44471200-44493200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr18:44471200-44495400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr18:44471200-44495400	Weak transcription	Primary B cells from cord blood	blood
23	chr18:44472200-44493800	Weak transcription	Left Ventricle	heart
24	chr18:44473800-44493400	Weak transcription	Fetal Heart	heart
25	chr18:44474400-44490800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr18:44474400-44493000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr18:44474400-44493600	Weak transcription	HepG2	liver
28	chr18:44474800-44493000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr18:44475600-44494200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr18:44480200-44490600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr18:44480600-44490400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr18:44482400-44495200	Weak transcription	Primary T cells from cord blood	blood
33	chr18:44483600-44495400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr18:44484000-44493400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr18:44484000-44495400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr18:44484000-44495800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr18:44486800-44493600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr18:44487000-44493000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr18:44487000-44493400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr18:44487200-44494600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr18:44487400-44496000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr18:44487600-44493200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr18:44487600-44495200	Weak transcription	Fetal Lung	lung
44	chr18:44487800-44490400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr18:44487800-44493000	Weak transcription	Dnd41	blood
46	chr18:44487800-44493600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr18:44487800-44493600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr18:44487800-44493800	Weak transcription	Psoas Muscle	Psoas
49	chr18:44488000-44495200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr18:44488000-44495200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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