Variant report

Variant	rs72746746
Chromosome Location	chr5:43000317-43000318
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:42998105..43003044-chr5:43016342..43020590,4	MCF-7	breast:
2	chr5:42999330..43002712-chr5:43065180..43068954,4	MCF-7	breast:
3	chr5:42989588..43001279-chr5:43004636..43014428,32	K562	blood:
4	chr5:42949709..42952302-chr5:42999079..43000906,2	MCF-7	breast:
5	chr5:42991772..42994897-chr5:42997978..43001031,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172262	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000251131	Chromatin interaction
ENSG00000271788	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10472376	1.00[ASN][1000 genomes]
rs10941609	1.00[ASN][1000 genomes]
rs11744076	1.00[ASN][1000 genomes]
rs11746055	1.00[ASN][1000 genomes]
rs12516224	1.00[ASN][1000 genomes]
rs12521684	1.00[ASN][1000 genomes]
rs13361827	1.00[ASN][1000 genomes]
rs160331	1.00[ASN][1000 genomes]
rs160332	1.00[ASN][1000 genomes]
rs16872962	1.00[ASN][1000 genomes]
rs16874465	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17300495	1.00[ASN][1000 genomes]
rs2444853	1.00[ASN][1000 genomes]
rs2548363	1.00[ASN][1000 genomes]
rs2548367	1.00[ASN][1000 genomes]
rs2548368	1.00[ASN][1000 genomes]
rs2603635	1.00[ASN][1000 genomes]
rs2924818	1.00[ASN][1000 genomes]
rs309920	1.00[ASN][1000 genomes]
rs309928	1.00[ASN][1000 genomes]
rs309933	1.00[ASN][1000 genomes]
rs309937	1.00[ASN][1000 genomes]
rs309943	1.00[ASN][1000 genomes]
rs309944	1.00[ASN][1000 genomes]
rs309945	1.00[ASN][1000 genomes]
rs315247	1.00[ASN][1000 genomes]
rs315248	1.00[ASN][1000 genomes]
rs315259	1.00[ASN][1000 genomes]
rs315261	1.00[ASN][1000 genomes]
rs315265	1.00[ASN][1000 genomes]
rs315267	1.00[ASN][1000 genomes]
rs375476	1.00[ASN][1000 genomes]
rs378886	1.00[ASN][1000 genomes]
rs387180	1.00[ASN][1000 genomes]
rs388377	1.00[ASN][1000 genomes]
rs399923	1.00[ASN][1000 genomes]
rs401102	1.00[ASN][1000 genomes]
rs401583	1.00[ASN][1000 genomes]
rs404899	1.00[ASN][1000 genomes]
rs408180	1.00[ASN][1000 genomes]
rs410225	1.00[ASN][1000 genomes]
rs424862	1.00[ASN][1000 genomes]
rs426335	1.00[ASN][1000 genomes]
rs435255	1.00[ASN][1000 genomes]
rs435445	1.00[ASN][1000 genomes]
rs55736023	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55962848	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55981030	1.00[ASN][1000 genomes]
rs56027646	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56035132	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56092116	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56289342	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56307687	1.00[ASN][1000 genomes]
rs56346893	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57643758	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57792463	1.00[ASN][1000 genomes]
rs58933160	1.00[ASN][1000 genomes]
rs60087060	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60244620	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60303876	1.00[ASN][1000 genomes]
rs6887414	1.00[ASN][1000 genomes]
rs72746737	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72746739	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72746753	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72746762	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72746766	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72746768	1.00[ASN][1000 genomes]
rs72746770	1.00[ASN][1000 genomes]
rs72748850	1.00[ASN][1000 genomes]
rs72757078	1.00[ASN][1000 genomes]
rs72757080	1.00[ASN][1000 genomes]
rs72759052	1.00[ASN][1000 genomes]
rs72759060	1.00[ASN][1000 genomes]
rs72759062	1.00[ASN][1000 genomes]
rs72759067	1.00[ASN][1000 genomes]
rs72759071	1.00[ASN][1000 genomes]
rs72759072	1.00[ASN][1000 genomes]
rs72759073	1.00[ASN][1000 genomes]
rs72759075	1.00[ASN][1000 genomes]
rs72759077	1.00[ASN][1000 genomes]
rs72759084	1.00[ASN][1000 genomes]
rs72759085	1.00[ASN][1000 genomes]
rs72759086	1.00[ASN][1000 genomes]
rs72759087	1.00[ASN][1000 genomes]
rs72759093	1.00[ASN][1000 genomes]
rs72759095	1.00[ASN][1000 genomes]
rs72759097	1.00[ASN][1000 genomes]
rs72762696	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72762697	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72762698	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72762701	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72764507	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72764510	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72764515	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72764517	0.90[EUR][1000 genomes]
rs72764524	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73754528	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702086	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
11	nsv881436	chr5:42967215-43008917	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
12	nsv880447	chr5:42967215-43030798	Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
13	nsv881640	chr5:42978644-43028221	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
14	nsv880415	chr5:42978644-43030798	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42995000-43000400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:42996000-43000800	Weak transcription	Spleen	Spleen
3	chr5:42997000-43000400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr5:42997200-43007200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr5:42998600-43006400	Weak transcription	Dnd41	blood
6	chr5:42999800-43000400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:42999800-43001200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr5:43000000-43000400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
9	chr5:43000000-43000400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
10	chr5:43000000-43000400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:43000000-43000400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr5:43000000-43000400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:43000000-43000400	Bivalent Enhancer	Brain Hippocampus Middle	brain
14	chr5:43000000-43000400	Enhancers	K562	blood
15	chr5:43000000-43000400	Flanking Active TSS	NHDF-Ad	bronchial
16	chr5:43000000-43000600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
17	chr5:43000000-43000600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr5:43000000-43001000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr5:43000000-43001000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr5:43000000-43001000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr5:43000000-43001000	Flanking Active TSS	HUVEC	blood vessel
22	chr5:43000000-43001200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:43000000-43001200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:43000000-43001400	Flanking Active TSS	NHEK	skin
25	chr5:43000200-43000400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:43000200-43000400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:43000200-43000400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:43000200-43000400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:43000200-43000400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:43000200-43000400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:43000200-43000400	Bivalent Enhancer	Esophagus	oesophagus
32	chr5:43000200-43000400	Bivalent Enhancer	Fetal Heart	heart
33	chr5:43000200-43000400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
34	chr5:43000200-43000400	Enhancers	Placenta	Placenta
35	chr5:43000200-43000400	Bivalent Enhancer	Fetal Thymus	thymus
36	chr5:43000200-43000400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
37	chr5:43000200-43000400	Bivalent/Poised TSS	Right Ventricle	heart
38	chr5:43000200-43000600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:43000200-43000600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:43000200-43000600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:43000200-43000600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr5:43000200-43000600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:43000200-43000600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:43000200-43000600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:43000200-43000600	Bivalent Enhancer	Liver	Liver
46	chr5:43000200-43000600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
47	chr5:43000200-43000600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
48	chr5:43000200-43000600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
49	chr5:43000200-43000600	Bivalent/Poised TSS	HepG2	liver
50	chr5:43000200-43000600	Flanking Active TSS	NHLF	lung

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