Variant report

Variant	rs73751286
Chromosome Location	chr5:42908625-42908626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:42907363..42912501-chr5:43064737..43069149,8	MCF-7	breast:
2	chr5:42907010..42910562-chr5:43064999..43067630,3	MCF-7	breast:
3	chr5:42907581..42909848-chr5:43040254..43042169,2	K562	blood:

Variant related genes	Relation type
ENSG00000215068	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000177738	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs4082200	0.89[AFR][1000 genomes]
rs55991920	0.95[AFR][1000 genomes]
rs59185684	0.95[AFR][1000 genomes]
rs59637724	0.84[AFR][1000 genomes]
rs60120785	0.89[AFR][1000 genomes]
rs61338068	0.84[AFR][1000 genomes]
rs73751265	0.84[AFR][1000 genomes]
rs73751276	0.95[AFR][1000 genomes]
rs73751279	0.95[AFR][1000 genomes]
rs73751280	0.95[AFR][1000 genomes]
rs73751284	0.95[AFR][1000 genomes]
rs73751287	0.95[AFR][1000 genomes]
rs73751288	0.89[AFR][1000 genomes]
rs73751290	0.89[AFR][1000 genomes]
rs73751298	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv523033	chr5:42752037-42919685	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
7	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
8	nsv1018276	chr5:42809131-42975245	Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv980936	chr5:42894375-42930741	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv968909	chr5:42903982-42953465	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv1806082	chr5:42906572-42967215	Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	esv1813779	chr5:42906572-42992040	Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42908400-42908800	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr5:42908400-42908800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
3	chr5:42908400-42908800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr5:42908400-42908800	Flanking Active TSS	Brain Anterior Caudate	brain
5	chr5:42908400-42908800	Flanking Active TSS	Brain Cingulate Gyrus	brain
6	chr5:42908400-42908800	Bivalent Enhancer	Fetal Heart	heart
7	chr5:42908400-42909000	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:42908400-42909000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr5:42908400-42909000	Flanking Bivalent TSS/Enh	NHEK	skin
10	chr5:42908400-42909200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr5:42908400-42909200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr5:42908400-42909200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr5:42908400-42909200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:42908400-42909200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:42908400-42909200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:42908400-42909200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:42908400-42909200	Flanking Active TSS	GM12878-XiMat	blood
18	chr5:42908400-42909200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr5:42908400-42909400	Flanking Active TSS	Liver	Liver
20	chr5:42908400-42909400	Active TSS	Brain Hippocampus Middle	brain
21	chr5:42908400-42909400	Flanking Active TSS	K562	blood
22	chr5:42908600-42908800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:42908600-42908800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:42908600-42908800	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
25	chr5:42908600-42908800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:42908600-42908800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:42908600-42908800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
28	chr5:42908600-42908800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
29	chr5:42908600-42908800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:42908600-42908800	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:42908600-42908800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
32	chr5:42908600-42908800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:42908600-42908800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
34	chr5:42908600-42908800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
35	chr5:42908600-42908800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
36	chr5:42908600-42908800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr5:42908600-42908800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
38	chr5:42908600-42908800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:42908600-42908800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
40	chr5:42908600-42908800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr5:42908600-42908800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:42908600-42908800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:42908600-42908800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
44	chr5:42908600-42908800	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr5:42908600-42908800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
46	chr5:42908600-42908800	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr5:42908600-42908800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
48	chr5:42908600-42908800	Bivalent/Poised TSS	Fetal Kidney	kidney
49	chr5:42908600-42908800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
50	chr5:42908600-42908800	Bivalent Enhancer	Fetal Stomach	stomach

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