Variant report

Variant	rs73426479
Chromosome Location	chr7:112032789-112032790
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112030505..112033411-chr7:112090112..112091685,2	MCF-7	breast:
2	chr7:112032001..112033811-chr7:112035670..112039221,3	MCF-7	breast:
3	chr7:111844038..111847203-chr7:112030805..112032804,3	MCF-7	breast:
4	chr7:112023462..112026199-chr7:112030712..112034136,5	MCF-7	breast:
5	chr7:111850231..111853782-chr7:112032412..112034689,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006652	Chromatin interaction
ENSG00000128512	Chromatin interaction
ENSG00000198839	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs58457277	1.00[AFR][1000 genomes]
rs6466405	0.87[AFR][1000 genomes]
rs6974029	0.83[AFR][1000 genomes]
rs73424456	0.96[AFR][1000 genomes]
rs73426417	0.96[AFR][1000 genomes]
rs73426460	1.00[AFR][1000 genomes]
rs73428424	0.91[AFR][1000 genomes]
rs73428425	0.91[AFR][1000 genomes]
rs73428427	0.91[AFR][1000 genomes]
rs73428453	0.87[AFR][1000 genomes]
rs73428460	0.87[AFR][1000 genomes]
rs7804274	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
3	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	esv3325611	chr7:112030791-112032839	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112031000-112032800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:112031000-112032800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:112031200-112032800	Active TSS	HSMM	muscle
4	chr7:112031400-112032800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:112032200-112032800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:112032200-112032800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr7:112032200-112032800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr7:112032200-112032800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr7:112032200-112032800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:112032200-112032800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:112032200-112032800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:112032200-112032800	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr7:112032200-112032800	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr7:112032200-112032800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr7:112032200-112032800	Flanking Active TSS	Dnd41	blood
16	chr7:112032200-112032800	Flanking Active TSS	HepG2	liver
17	chr7:112032200-112032800	Flanking Active TSS	HMEC	breast
18	chr7:112032400-112032800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:112032400-112032800	Enhancers	Primary B cells from cord blood	blood
20	chr7:112032400-112032800	Enhancers	Primary B cells from peripheral blood	blood
21	chr7:112032400-112032800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:112032400-112032800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:112032400-112032800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr7:112032400-112032800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:112032400-112032800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:112032400-112032800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:112032400-112032800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:112032400-112032800	Enhancers	Colon Smooth Muscle	Colon
29	chr7:112032400-112032800	Flanking Active TSS	Fetal Brain Female	brain
30	chr7:112032400-112032800	Enhancers	Fetal Lung	lung
31	chr7:112032400-112032800	Enhancers	Placenta	Placenta
32	chr7:112032400-112032800	Enhancers	Left Ventricle	heart
33	chr7:112032400-112032800	Enhancers	Ovary	ovary
34	chr7:112032400-112032800	Enhancers	Psoas Muscle	Psoas
35	chr7:112032400-112032800	Enhancers	Right Ventricle	heart
36	chr7:112032400-112032800	Enhancers	Spleen	Spleen
37	chr7:112032400-112032800	Flanking Active TSS	A549	lung
38	chr7:112032400-112035400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:112032600-112032800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr7:112032600-112032800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:112032600-112032800	Enhancers	H9 Cell Line	embryonic stem cell
42	chr7:112032600-112032800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:112032600-112032800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:112032600-112032800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr7:112032600-112032800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:112032600-112032800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:112032600-112032800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:112032600-112032800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr7:112032600-112032800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:112032600-112032800	Enhancers	Primary T cells from cord blood	blood

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