Variant report

Variant	rs73252311
Chromosome Location	chr5:118639236-118639237
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118625535..118627698-chr5:118638238..118640476,2	MCF-7	breast:
2	chr5:118624542..118627216-chr5:118638693..118640326,2	MCF-7	breast:
3	chr5:118622873..118625111-chr5:118638258..118641948,4	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10452544	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10452545	1.00[AMR][1000 genomes]
rs12109360	1.00[AFR][1000 genomes]
rs17144974	1.00[AMR][1000 genomes]
rs57574427	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59344448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59473275	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59758980	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73235231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73235244	1.00[AMR][1000 genomes]
rs73248908	1.00[AMR][1000 genomes]
rs73248911	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248974	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248976	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248978	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248981	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248988	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248995	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73250803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73250806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73250810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73250902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252320	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73252322	0.88[AFR][1000 genomes];1.00[AMR][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	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118628000-118641000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:118635400-118643800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr5:118635600-118640800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:118635800-118640600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:118635800-118641000	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr5:118635800-118641400	Enhancers	Thymus	Thymus
7	chr5:118636000-118640000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr5:118636000-118640800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:118636000-118641400	Enhancers	NHEK	skin
10	chr5:118636000-118641800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:118636200-118640200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:118636200-118644000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr5:118636400-118640800	Enhancers	NHDF-Ad	bronchial
14	chr5:118636400-118644200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr5:118636400-118647000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr5:118636600-118641400	Enhancers	Primary B cells from peripheral blood	blood
17	chr5:118636800-118640000	Enhancers	Primary B cells from cord blood	blood
18	chr5:118636800-118641800	Enhancers	HMEC	breast
19	chr5:118637000-118639400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr5:118637000-118640000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr5:118637000-118640400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:118637000-118640600	Enhancers	HSMM	muscle
23	chr5:118637000-118641200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:118637000-118653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:118637200-118641200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:118637600-118639600	Flanking Active TSS	A549	lung
27	chr5:118637600-118641000	Enhancers	NH-A	brain
28	chr5:118637800-118639400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr5:118637800-118639400	Enhancers	HSMMtube	muscle
30	chr5:118637800-118639800	Enhancers	Fetal Heart	heart
31	chr5:118637800-118640000	Enhancers	HUVEC	blood vessel
32	chr5:118637800-118640200	Enhancers	NHLF	lung
33	chr5:118637800-118640400	Enhancers	Aorta	Aorta
34	chr5:118637800-118640600	Enhancers	Stomach Mucosa	stomach
35	chr5:118638000-118639600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr5:118638200-118639400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr5:118638200-118639400	Enhancers	Fetal Kidney	kidney
38	chr5:118638200-118640200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr5:118638200-118640200	Enhancers	Fetal Intestine Large	intestine
40	chr5:118638200-118640400	Enhancers	Duodenum Mucosa	Duodenum
41	chr5:118638200-118640400	Enhancers	Fetal Intestine Small	intestine
42	chr5:118638200-118640600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:118638200-118640600	Genic enhancers	Dnd41	blood
44	chr5:118638200-118640800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:118638400-118639400	Enhancers	Rectal Smooth Muscle	rectum
46	chr5:118638400-118639600	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr5:118638400-118639600	Enhancers	Fetal Lung	lung
48	chr5:118638400-118640000	Enhancers	GM12878-XiMat	blood
49	chr5:118638400-118640200	Enhancers	Colon Smooth Muscle	Colon
50	chr5:118638400-118640600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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