Variant report

Variant	rs73057521
Chromosome Location	chr5:14198133-14198134
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	chr5:14190950..14193183-chr5:14195167..14198577,4	MCF-7	breast:
2	chr5:14186990..14191289-chr5:14196188..14199111,4	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11958958	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903280	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16903317	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903319	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903330	0.87[AMR][1000 genomes]
rs59032427	0.87[AMR][1000 genomes]
rs60615600	0.87[AMR][1000 genomes]
rs61737132	0.87[AMR][1000 genomes]
rs62344640	0.83[AFR][1000 genomes]
rs6891552	0.87[AMR][1000 genomes]
rs73055570	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73055575	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73055577	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73055578	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73055592	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73055595	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73055596	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73055600	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73055601	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057505	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057508	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057511	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057512	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057554	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057562	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73057593	0.87[AMR][1000 genomes]
rs73057602	0.87[AMR][1000 genomes]
rs73059545	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516415	chr5:13788886-14210897	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv1830112	chr5:14147376-14222601	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv1792551	chr5:14180257-14202590	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14184600-14202600	Weak transcription	Fetal Intestine Small	intestine
2	chr5:14186000-14199800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:14186000-14200000	Weak transcription	Esophagus	oesophagus
4	chr5:14188000-14199800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:14188800-14204000	Weak transcription	Fetal Kidney	kidney
6	chr5:14189000-14203600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr5:14190800-14199600	Weak transcription	Brain Anterior Caudate	brain
8	chr5:14190800-14199800	Weak transcription	HepG2	liver
9	chr5:14191200-14199600	Weak transcription	Brain Angular Gyrus	brain
10	chr5:14191200-14200200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:14191400-14202600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:14191600-14199600	Weak transcription	GM12878-XiMat	blood
13	chr5:14191600-14199800	Weak transcription	Pancreas	Pancrea
14	chr5:14191600-14202200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr5:14191800-14201600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr5:14192200-14208000	Weak transcription	Hela-S3	cervix
17	chr5:14192400-14199000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr5:14193800-14200800	Genic enhancers	HSMM	muscle
19	chr5:14194200-14198600	Weak transcription	Right Ventricle	heart
20	chr5:14194200-14199600	Weak transcription	Spleen	Spleen
21	chr5:14194200-14199800	Weak transcription	Small Intestine	intestine
22	chr5:14194200-14200000	Weak transcription	Fetal Stomach	stomach
23	chr5:14194800-14202200	Weak transcription	Primary B cells from cord blood	blood
24	chr5:14195200-14200600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr5:14195600-14199600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:14195600-14199800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:14195600-14200600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:14195800-14200600	Genic enhancers	NH-A	brain
29	chr5:14196000-14198600	Genic enhancers	NHDF-Ad	bronchial
30	chr5:14196400-14198200	Enhancers	Adipose Nuclei	Adipose
31	chr5:14196400-14198600	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr5:14196600-14198200	Enhancers	A549	lung
33	chr5:14196600-14198400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:14196600-14199000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:14196600-14200600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:14196600-14200800	Enhancers	Psoas Muscle	Psoas
37	chr5:14196600-14200800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr5:14196800-14198400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:14196800-14198600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr5:14196800-14199000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:14197000-14202600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:14197000-14203800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr5:14197000-14204800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:14197200-14198800	Enhancers	Left Ventricle	heart
45	chr5:14197200-14199000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:14197200-14199600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr5:14197200-14200600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:14197200-14201200	Enhancers	Fetal Thymus	thymus
49	chr5:14197400-14198800	Weak transcription	Thymus	Thymus
50	chr5:14197400-14198800	Weak transcription	HUVEC	blood vessel

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