Variant report

Variant	rs7723356
Chromosome Location	chr5:58958317-58958318
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	chr5:58803367..58805536-chr5:58956722..58959458,2	MCF-7	breast:

Extended variants
information (count: 107 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10036621	1.00[EUR][1000 genomes]
rs10037195	1.00[EUR][1000 genomes]
rs10070270	1.00[EUR][1000 genomes]
rs10076058	1.00[EUR][1000 genomes]
rs10078146	1.00[EUR][1000 genomes]
rs10214307	1.00[EUR][1000 genomes]
rs10472115	1.00[EUR][1000 genomes]
rs10514882	1.00[EUR][1000 genomes]
rs16890137	1.00[EUR][1000 genomes]
rs16890246	1.00[EUR][1000 genomes]
rs16890279	1.00[EUR][1000 genomes]
rs16890284	1.00[EUR][1000 genomes]
rs16890314	1.00[EUR][1000 genomes]
rs2016004	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3797208	1.00[EUR][1000 genomes]
rs4602573	1.00[EUR][1000 genomes]
rs55641022	1.00[EUR][1000 genomes]
rs55720412	1.00[EUR][1000 genomes]
rs55930874	1.00[EUR][1000 genomes]
rs56203004	1.00[EUR][1000 genomes]
rs57153097	1.00[EUR][1000 genomes]
rs57402847	1.00[EUR][1000 genomes]
rs57413746	1.00[EUR][1000 genomes]
rs57434558	1.00[EUR][1000 genomes]
rs57438370	1.00[EUR][1000 genomes]
rs57465219	1.00[EUR][1000 genomes]
rs57742530	1.00[EUR][1000 genomes]
rs58746465	1.00[EUR][1000 genomes]
rs58815573	1.00[EUR][1000 genomes]
rs59025824	1.00[EUR][1000 genomes]
rs60774517	1.00[EUR][1000 genomes]
rs61146095	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6450533	1.00[EUR][1000 genomes]
rs6450534	1.00[EUR][1000 genomes]
rs6650953	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6861008	1.00[EUR][1000 genomes]
rs6861209	1.00[EUR][1000 genomes]
rs6862255	1.00[EUR][1000 genomes]
rs6866277	1.00[EUR][1000 genomes]
rs6867150	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6869978	1.00[EUR][1000 genomes]
rs6873715	1.00[EUR][1000 genomes]
rs6873774	1.00[EUR][1000 genomes]
rs6874354	1.00[EUR][1000 genomes]
rs6874831	1.00[EUR][1000 genomes]
rs6876534	1.00[EUR][1000 genomes]
rs6878243	1.00[EUR][1000 genomes]
rs6882607	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6885868	1.00[EUR][1000 genomes]
rs6888341	1.00[EUR][1000 genomes]
rs6889471	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6891000	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6893381	1.00[EUR][1000 genomes]
rs6895425	1.00[EUR][1000 genomes]
rs6896644	1.00[EUR][1000 genomes]
rs6896871	1.00[EUR][1000 genomes]
rs73092839	1.00[EUR][1000 genomes]
rs73092846	1.00[EUR][1000 genomes]
rs73758838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73758839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73758847	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73758848	0.80[AFR][1000 genomes]
rs73758850	1.00[EUR][1000 genomes]
rs73758851	1.00[EUR][1000 genomes]
rs73758856	1.00[EUR][1000 genomes]
rs73758857	1.00[EUR][1000 genomes]
rs73758858	1.00[EUR][1000 genomes]
rs73758859	1.00[EUR][1000 genomes]
rs73758860	1.00[EUR][1000 genomes]
rs73758862	1.00[EUR][1000 genomes]
rs73758864	1.00[EUR][1000 genomes]
rs73758867	1.00[EUR][1000 genomes]
rs73758868	1.00[EUR][1000 genomes]
rs73761012	1.00[EUR][1000 genomes]
rs7703935	1.00[EUR][1000 genomes]
rs7705119	1.00[EUR][1000 genomes]
rs7705820	1.00[EUR][1000 genomes]
rs7707756	1.00[EUR][1000 genomes]
rs7707855	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7708246	1.00[EUR][1000 genomes]
rs7709094	1.00[EUR][1000 genomes]
rs7709292	1.00[EUR][1000 genomes]
rs7710349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7711022	1.00[EUR][1000 genomes]
rs7713509	1.00[EUR][1000 genomes]
rs7713964	1.00[EUR][1000 genomes]
rs7716837	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7727677	1.00[EUR][1000 genomes]
rs7728346	1.00[EUR][1000 genomes]
rs7729112	1.00[EUR][1000 genomes]
rs7729853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7734202	1.00[EUR][1000 genomes]
rs7737029	1.00[EUR][1000 genomes]
rs7737211	1.00[EUR][1000 genomes]
rs9292215	1.00[EUR][1000 genomes]
rs9292216	1.00[EUR][1000 genomes]
rs9292217	1.00[EUR][1000 genomes]
rs9765834	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031631	chr5:58783629-59015470	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv881708	chr5:58869051-59093198	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1018015	chr5:58889470-59532667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv537766	chr5:58889470-59532667	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv427720	chr5:58913581-59086987	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv462190	chr5:58936943-59023870	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
7	nsv598258	chr5:58936943-59023870	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1034283	chr5:58940594-59040762	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
9	nsv537767	chr5:58940594-59040762	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 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	chr5:58948000-58961600	Weak transcription	Gastric	stomach
2	chr5:58954600-58958600	Enhancers	Stomach Mucosa	stomach
3	chr5:58954800-58958400	Enhancers	Fetal Intestine Small	intestine
4	chr5:58956000-58959000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:58956000-58959000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:58956200-58958400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:58956400-58958400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:58956400-58958400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:58956400-58958600	Enhancers	Hela-S3	cervix
10	chr5:58956400-58958600	Enhancers	HSMMtube	muscle
11	chr5:58956600-58958400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:58957200-58958400	Enhancers	Primary B cells from peripheral blood	blood
13	chr5:58957200-58958400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:58957200-58958400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr5:58957200-58958400	Enhancers	HepG2	liver
16	chr5:58957200-58958600	Enhancers	Fetal Lung	lung
17	chr5:58957400-58958600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:58957400-58959600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:58957400-58960800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:58957600-58958400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr5:58957600-58958400	Enhancers	NH-A	brain
22	chr5:58957800-58958400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:58957800-58958400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:58957800-58958400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr5:58957800-58958400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:58957800-58958400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:58957800-58958400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr5:58957800-58958400	Flanking Active TSS	A549	lung
29	chr5:58957800-58958400	Enhancers	HSMM	muscle
30	chr5:58957800-58958600	Active TSS	Stomach Smooth Muscle	stomach
31	chr5:58958000-58958400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr5:58958000-58958400	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr5:58958000-58958400	Active TSS	Right Atrium	heart
34	chr5:58958000-58958400	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr5:58958000-58958400	Active TSS	GM12878-XiMat	blood
36	chr5:58958000-58958400	Flanking Active TSS	HUVEC	blood vessel
37	chr5:58958000-58958400	Active TSS	Osteobl	bone
38	chr5:58958000-58958600	Enhancers	Duodenum Mucosa	Duodenum
39	chr5:58958000-58958600	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr5:58958000-58959600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:58958000-58961400	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr5:58958200-58958400	Active TSS	Primary B cells from cord blood	blood
43	chr5:58958200-58958400	Enhancers	Adipose Nuclei	Adipose
44	chr5:58958200-58958400	Active TSS	Liver	Liver
45	chr5:58958200-58958400	Enhancers	Rectal Smooth Muscle	rectum
46	chr5:58958200-58958600	Active TSS	Primary hematopoietic stem cells	blood
47	chr5:58958200-58958600	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr5:58958200-58959000	Weak transcription	Fetal Intestine Large	intestine
49	chr5:58958200-58959600	Weak transcription	Colon Smooth Muscle	Colon
50	chr5:58958200-58959600	Weak transcription	Small Intestine	intestine

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