Variant report

Variant	rs56171371
Chromosome Location	chr5:80983766-80983767
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	chr5:80983475..80985751-chr5:80991739..80993703,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11952518	1.00[AMR][1000 genomes]
rs57455684	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57679797	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57695076	1.00[AMR][1000 genomes]
rs60796217	0.85[AMR][1000 genomes]
rs60863858	1.00[AMR][1000 genomes]
rs6452421	0.85[AMR][1000 genomes]
rs6872753	0.85[AMR][1000 genomes]
rs6893327	1.00[AMR][1000 genomes]
rs6897697	0.85[AMR][1000 genomes]
rs73766271	0.85[AMR][1000 genomes]
rs73766289	0.85[AMR][1000 genomes]
rs73766290	0.85[AMR][1000 genomes]
rs73766295	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73766298	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73766300	0.85[AMR][1000 genomes]
rs73768105	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73768115	1.00[AMR][1000 genomes]
rs73768119	1.00[AMR][1000 genomes]
rs73768120	1.00[AMR][1000 genomes]
rs73768122	0.85[AMR][1000 genomes]
rs73768123	0.85[AMR][1000 genomes]
rs7719738	1.00[AMR][1000 genomes]
rs7728066	1.00[AMR][1000 genomes]
rs7735543	1.00[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	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv882235	chr5:80909132-81006061	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv882236	chr5:80930992-80999768	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv882237	chr5:80938489-81006061	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3345018	chr5:80972245-80998709	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3330268	chr5:80972245-81001669	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80945600-80985400	Weak transcription	Fetal Kidney	kidney
2	chr5:80963400-80983800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:80967400-80991400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr5:80971200-80995800	Weak transcription	HSMMtube	muscle
5	chr5:80973400-80990000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:80974800-80984200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:80976000-80996000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:80978200-80984400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr5:80979000-80983800	Weak transcription	Primary T cells from cord blood	blood
10	chr5:80980000-80984600	Weak transcription	Fetal Lung	lung
11	chr5:80980600-80996000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr5:80981000-80989000	Weak transcription	Psoas Muscle	Psoas
13	chr5:80981200-80983800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:80981200-80985200	Weak transcription	Right Atrium	heart
15	chr5:80981400-80984800	Genic enhancers	Dnd41	blood
16	chr5:80981600-80986400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:80982000-80983800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr5:80982200-80987000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:80982800-80984000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:80982800-80984000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:80982800-80984200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:80982800-80984400	ZNF genes & repeats	Fetal Stomach	stomach
23	chr5:80982800-80984400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr5:80982800-80984600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr5:80982800-80984600	ZNF genes & repeats	Fetal Brain Female	brain
26	chr5:80982800-80984600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr5:80982800-80984600	Genic enhancers	Thymus	Thymus
28	chr5:80982800-80984800	Genic enhancers	Fetal Thymus	thymus
29	chr5:80982800-80984800	ZNF genes & repeats	GM12878-XiMat	blood
30	chr5:80982800-80985400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:80982800-80985400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
32	chr5:80982800-80988600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
33	chr5:80983000-80984200	Enhancers	Esophagus	oesophagus
34	chr5:80983000-80984200	Strong transcription	Fetal Intestine Large	intestine
35	chr5:80983000-80984400	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr5:80983000-80984600	ZNF genes & repeats	Fetal Muscle Leg	muscle
37	chr5:80983000-80984800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:80983000-80985000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:80983200-80983800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr5:80983200-80984000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:80983200-80984000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:80983200-80984000	Genic enhancers	Lung	lung
43	chr5:80983200-80984000	Weak transcription	Right Ventricle	heart
44	chr5:80983200-80984000	Enhancers	NHEK	skin
45	chr5:80983200-80984200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:80983200-80986000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:80983400-80983800	Enhancers	Primary B cells from peripheral blood	blood
48	chr5:80983400-80983800	Strong transcription	Aorta	Aorta
49	chr5:80983400-80983800	Genic enhancers	Left Ventricle	heart
50	chr5:80983400-80983800	Genic enhancers	Stomach Smooth Muscle	stomach

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