Variant report

Variant	rs57679797
Chromosome Location	chr5:80946748-80946749
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80946322..80948172-chr5:80949841..80952303,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11952518	1.00[AMR][1000 genomes]
rs56171371	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57455684	0.89[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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73766298	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73766300	0.85[AMR][1000 genomes]
rs73768105	0.91[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:10 , 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	nsv882234	chr5:80853708-80966666	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv525437	chr5:80876359-80964452	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers 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
4	nsv462222	chr5:80900719-80964452	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv598752	chr5:80900719-80964452	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	nsv527374	chr5:80938095-80964452	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	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

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80906000-80947000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:80906200-80947800	Weak transcription	Brain Germinal Matrix	brain
3	chr5:80910400-80953000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr5:80910800-80949200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr5:80920600-80946800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr5:80921200-80983000	Weak transcription	Aorta	Aorta
7	chr5:80923000-80952800	Weak transcription	Fetal Intestine Large	intestine
8	chr5:80923200-80947000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:80923200-80948400	Weak transcription	K562	blood
10	chr5:80924200-80962800	Weak transcription	Ovary	ovary
11	chr5:80924800-80972000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:80926200-80947000	Weak transcription	Fetal Brain Male	brain
13	chr5:80930400-80947400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr5:80930800-80953400	Weak transcription	Right Ventricle	heart
15	chr5:80931000-80952800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:80932200-80952000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr5:80932200-80952200	Weak transcription	Fetal Muscle Leg	muscle
18	chr5:80932200-80952800	Weak transcription	Adipose Nuclei	Adipose
19	chr5:80932400-80963000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:80932800-80947400	Weak transcription	Primary T cells from cord blood	blood
21	chr5:80935400-80949400	Weak transcription	HSMMtube	muscle
22	chr5:80935600-80947600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:80935800-80946800	Weak transcription	HSMM	muscle
24	chr5:80935800-80951800	Weak transcription	NHDF-Ad	bronchial
25	chr5:80936000-80951600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:80938800-80965200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr5:80939200-80947600	Weak transcription	Left Ventricle	heart
28	chr5:80939200-80952800	Weak transcription	Lung	lung
29	chr5:80939200-80962400	Weak transcription	Fetal Stomach	stomach
30	chr5:80940600-80955600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr5:80942800-80953400	Weak transcription	Fetal Intestine Small	intestine
32	chr5:80942800-80962800	Weak transcription	Right Atrium	heart
33	chr5:80943800-80947000	Strong transcription	Dnd41	blood
34	chr5:80944200-80953000	Weak transcription	Fetal Heart	heart
35	chr5:80944400-80953400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr5:80945200-80949000	Weak transcription	Primary B cells from cord blood	blood
37	chr5:80945400-80947000	Weak transcription	GM12878-XiMat	blood
38	chr5:80945600-80947400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr5:80945600-80949000	Weak transcription	Thymus	Thymus
40	chr5:80945600-80950000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:80945600-80952200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr5:80945600-80953400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:80945600-80985400	Weak transcription	Fetal Kidney	kidney
44	chr5:80945800-80947400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr5:80945800-80947600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:80946000-80949800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:80946000-80958200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr5:80946200-80947000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:80946200-80947600	Weak transcription	Fetal Thymus	thymus
50	chr5:80946200-80972800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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