Variant report

Variant	rs4239310
Chromosome Location	chr18:13227481-13227482
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13217023..13220421-chr18:13225382..13228239,3	MCF-7	breast:
2	chr18:13226398..13229560-chr18:13232125..13236070,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168675	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10164063	1.00[EUR][1000 genomes]
rs11080631	1.00[EUR][1000 genomes]
rs1613375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1628961	1.00[EUR][1000 genomes]
rs1786993	1.00[EUR][1000 genomes]
rs1893324	1.00[EUR][1000 genomes]
rs1893325	1.00[EUR][1000 genomes]
rs1945136	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2027693	1.00[EUR][1000 genomes]
rs2027694	1.00[EUR][1000 genomes]
rs2155864	1.00[EUR][1000 genomes]
rs478502	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4796970	1.00[EUR][1000 genomes]
rs4797734	1.00[AMR][1000 genomes]
rs4797755	1.00[AMR][1000 genomes]
rs482642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs483647	1.00[EUR][1000 genomes]
rs486976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs506877	1.00[EUR][1000 genomes]
rs533010	1.00[EUR][1000 genomes]
rs543201	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs547479	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs569831	1.00[EUR][1000 genomes]
rs575250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7238800	1.00[EUR][1000 genomes]
rs7244281	1.00[MEX][hapmap]
rs73419545	1.00[EUR][1000 genomes]
rs9675540	1.00[MEX][hapmap]
rs9945456	1.00[EUR][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	nsv833591	chr18:13093777-13253748	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv909408	chr18:13122618-13308950	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv909409	chr18:13151544-13240284	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv909410	chr18:13151544-13308950	Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3498492	chr18:13227093-13227536	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3498493	chr18:13227093-13227536	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13223000-13231000	Genic enhancers	Fetal Thymus	thymus
2	chr18:13223400-13232600	Weak transcription	Fetal Intestine Large	intestine
3	chr18:13223400-13235400	Weak transcription	Fetal Kidney	kidney
4	chr18:13223600-13232200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr18:13223600-13235600	Weak transcription	Fetal Intestine Small	intestine
6	chr18:13223600-13241400	Weak transcription	Aorta	Aorta
7	chr18:13223800-13232400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:13223800-13234200	Weak transcription	Liver	Liver
9	chr18:13223800-13259800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr18:13224000-13232000	Weak transcription	Gastric	stomach
11	chr18:13224000-13234800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr18:13224000-13235400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr18:13224000-13259800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr18:13224200-13232000	Weak transcription	Brain Angular Gyrus	brain
15	chr18:13224200-13233400	Weak transcription	HepG2	liver
16	chr18:13224400-13228000	Weak transcription	Esophagus	oesophagus
17	chr18:13224400-13228000	Weak transcription	Fetal Brain Male	brain
18	chr18:13224400-13228400	Weak transcription	Fetal Brain Female	brain
19	chr18:13224400-13228400	Weak transcription	Lung	lung
20	chr18:13224400-13231200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr18:13224400-13231200	Weak transcription	Fetal Muscle Leg	muscle
22	chr18:13224400-13231600	Weak transcription	Brain Hippocampus Middle	brain
23	chr18:13224400-13232000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr18:13224400-13232000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr18:13224400-13232000	Weak transcription	Brain Substantia Nigra	brain
26	chr18:13224400-13232200	Weak transcription	Adipose Nuclei	Adipose
27	chr18:13224400-13232200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr18:13224400-13232400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr18:13224400-13234000	Weak transcription	Pancreas	Pancrea
30	chr18:13224400-13234600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr18:13224400-13235400	Weak transcription	Colon Smooth Muscle	Colon
32	chr18:13224400-13235600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr18:13224400-13242600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr18:13224400-13245400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr18:13224400-13259800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr18:13224600-13228000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr18:13224600-13228000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr18:13224600-13232000	Weak transcription	Brain Anterior Caudate	brain
39	chr18:13225000-13231200	Weak transcription	Fetal Lung	lung
40	chr18:13225400-13227800	Weak transcription	Right Ventricle	heart
41	chr18:13225400-13229200	Weak transcription	Brain Germinal Matrix	brain
42	chr18:13225400-13230400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr18:13225400-13232000	Weak transcription	Right Atrium	heart
44	chr18:13225600-13227800	Weak transcription	Primary T cells from cord blood	blood
45	chr18:13225600-13228000	Weak transcription	Left Ventricle	heart
46	chr18:13225600-13232600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr18:13225800-13228000	Weak transcription	Fetal Heart	heart
48	chr18:13227000-13228400	Enhancers	Spleen	Spleen
49	chr18:13227000-13230400	Genic enhancers	Thymus	Thymus
50	chr18:13227000-13231000	Strong transcription	Fetal Stomach	stomach

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