Variant report

Variant	rs73754539
Chromosome Location	chr5:43035082-43035083
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43034822..43036954-chr5:43065370..43067961,2	K562	blood:
2	chr5:43034026..43036831-chr5:43037498..43040104,5	MCF-7	breast:
3	chr5:43014739..43026335-chr5:43034830..43045515,33	MCF-7	breast:
4	chr5:43034726..43053192-chr5:43061725..43074206,66	K562	blood:
5	chr5:43015314..43020034-chr5:43032196..43035172,5	MCF-7	breast:
6	chr5:43024225..43027639-chr5:43033975..43036127,3	K562	blood:

Variant related genes	Relation type
ENSG00000177738	Chromatin interaction
ENSG00000251131	Chromatin interaction
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1389304	1.00[AFR][1000 genomes]
rs55672386	1.00[AFR][1000 genomes]
rs55824534	0.88[AFR][1000 genomes]
rs56017053	1.00[AFR][1000 genomes]
rs57576393	0.81[AFR][1000 genomes]
rs58237022	1.00[AFR][1000 genomes]
rs58551906	1.00[AFR][1000 genomes]
rs58723178	0.81[AFR][1000 genomes]
rs58730711	0.88[AFR][1000 genomes]
rs61242377	1.00[AFR][1000 genomes]
rs73751007	1.00[AFR][1000 genomes]
rs73751037	0.88[AFR][1000 genomes]
rs73751040	0.81[AFR][1000 genomes]
rs73751043	0.81[AFR][1000 genomes]
rs73751302	0.88[AFR][1000 genomes]
rs73754505	0.88[AFR][1000 genomes]
rs73754508	0.88[AFR][1000 genomes]
rs73754517	0.89[AFR][1000 genomes]
rs73754520	1.00[AFR][1000 genomes]
rs73754527	1.00[AFR][1000 genomes]
rs73754531	1.00[AFR][1000 genomes]
rs73754535	1.00[AFR][1000 genomes]
rs73754536	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
5	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
6	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
7	nsv1029288	chr5:42928085-43047323	Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	120 gene(s)	inside rSNPs	diseases
8	nsv968169	chr5:42956713-43043472	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	116 gene(s)	inside rSNPs	diseases
9	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
10	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43020800-43037400	Weak transcription	HSMM	muscle
2	chr5:43020800-43038400	Weak transcription	Spleen	Spleen
3	chr5:43021200-43038600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:43022000-43036400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr5:43029400-43037600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:43033600-43035400	Flanking Active TSS	HUVEC	blood vessel
7	chr5:43033800-43035200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:43033800-43035200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:43033800-43035400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:43033800-43035400	Flanking Active TSS	NH-A	brain
11	chr5:43034000-43037000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr5:43034200-43035400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:43034200-43035400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr5:43034200-43035400	Enhancers	Primary hematopoietic stem cells	blood
15	chr5:43034200-43035600	Enhancers	Primary B cells from peripheral blood	blood
16	chr5:43034200-43037000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:43034400-43035200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:43034400-43035400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:43034400-43035400	Enhancers	Primary B cells from cord blood	blood
20	chr5:43034400-43035400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr5:43034400-43035400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:43034400-43035400	Enhancers	Thymus	Thymus
23	chr5:43034400-43035600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:43034400-43035800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:43034400-43037000	Enhancers	Primary T cells from cord blood	blood
26	chr5:43034400-43037400	Enhancers	Dnd41	blood
27	chr5:43034600-43035200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:43034600-43035200	Enhancers	Hela-S3	cervix
29	chr5:43034600-43035400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr5:43034600-43035400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr5:43034600-43035600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:43034600-43035600	Enhancers	HepG2	liver
33	chr5:43034600-43035800	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr5:43034600-43036600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr5:43034600-43036800	Weak transcription	Placenta	Placenta
36	chr5:43034600-43037000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:43034600-43037200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr5:43034600-43037200	Weak transcription	Pancreas	Pancrea
39	chr5:43034600-43037600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr5:43034600-43037600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:43034800-43035200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr5:43034800-43035200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr5:43034800-43035200	Enhancers	NHLF	lung
44	chr5:43034800-43035400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:43034800-43035400	Enhancers	Adipose Nuclei	Adipose
46	chr5:43034800-43035400	Enhancers	Fetal Thymus	thymus
47	chr5:43034800-43035400	Enhancers	GM12878-XiMat	blood
48	chr5:43034800-43035400	Enhancers	NHEK	skin
49	chr5:43034800-43035600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr5:43034800-43037000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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