Variant report

Variant	esv3322525
Chromosome Location	chr5:178004196-178006694
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:178001407..178003756-chr5:178005377..178007780,2	K562	blood:
2	chr5:177995855..177997941-chr5:178001993..178004774,2	K562	blood:
3	chr5:178006099..178008478-chr5:178010854..178012707,2	MCF-7	breast:

Extended variants
information (count: 97 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186890653	chr5:178004232-178004233	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370712758	chr5:178004268-178004269	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570699199	chr5:178004272-178004273	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367762978	chr5:178004279-178004280	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557362404	chr5:178004383-178004384	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140338215	chr5:178004388-178004389	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188667380	chr5:178004405-178004406	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558180887	chr5:178004450-178004451	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554717076	chr5:178004508-178004509	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572943687	chr5:178004516-178004517	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568530924	chr5:178004524-178004525	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558550823	chr5:178004533-178004534	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150359965	chr5:178004656-178004657	Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs10064672	chr5:178004658-178004659	Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs10073970	chr5:178004679-178004680	Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs529840721	chr5:178004683-178004684	Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs541582419	chr5:178004694-178004695	Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs138041609	chr5:178004722-178004723	Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs368339895	chr5:178004744-178004745	Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs528592736	chr5:178004802-178004803	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs530970216	chr5:178004940-178004941	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs73804319	chr5:178004942-178004943	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs571656496	chr5:178004950-178004951	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs141291600	chr5:178004982-178004983	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs33941001	chr5:178004983-178004984	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs262050	chr5:178005049-178005050	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs553981570	chr5:178005052-178005053	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs556337101	chr5:178005075-178005076	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs577067008	chr5:178005076-178005077	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs546329480	chr5:178005088-178005089	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs569534324	chr5:178005097-178005098	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs562936749	chr5:178005102-178005103	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs555982816	chr5:178005117-178005118	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs33991455	chr5:178005123-178005124	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs542235036	chr5:178005124-178005125	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs58400191	chr5:178005134-178005135	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs384212	chr5:178005135-178005136	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs563486933	chr5:178005141-178005142	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs149576982	chr5:178005147-178005148	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs533921144	chr5:178005150-178005151	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs528027057	chr5:178005170-178005171	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs558357353	chr5:178005228-178005229	Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs576815989	chr5:178005234-178005235	Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs143302068	chr5:178005333-178005334	Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs547767923	chr5:178005354-178005355	Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs665232	chr5:178005391-178005392	Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs185743587	chr5:178005400-178005401	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs149945287	chr5:178005428-178005429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541643542	chr5:178005450-178005451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559951500	chr5:178005456-178005457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178003200-178005000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr5:178003400-178004400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
3	chr5:178003400-178004400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:178003400-178004800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:178003400-178004800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr5:178003400-178004800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr5:178003400-178004800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr5:178003400-178005000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr5:178003400-178005000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr5:178003400-178005000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr5:178003600-178004200	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:178003600-178004200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:178003600-178004200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:178003600-178004200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr5:178003600-178004200	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:178003600-178004200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:178003600-178004200	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr5:178003600-178004200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:178003600-178004200	Bivalent/Poised TSS	Fetal Stomach	stomach
20	chr5:178003600-178004200	Active TSS	Left Ventricle	heart
21	chr5:178003600-178004200	Bivalent Enhancer	Lung	lung
22	chr5:178003600-178004200	Active TSS	Right Atrium	heart
23	chr5:178003600-178004200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
24	chr5:178003600-178004400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:178003600-178004400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
26	chr5:178003600-178004400	Bivalent/Poised TSS	Psoas Muscle	Psoas
27	chr5:178003600-178004400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
28	chr5:178003600-178004400	Bivalent Enhancer	Spleen	Spleen
29	chr5:178003600-178004600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:178003600-178004600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr5:178003600-178004600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr5:178003600-178004600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
33	chr5:178003600-178004800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr5:178003600-178004800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:178003600-178005000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:178003600-178005000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:178003800-178004200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:178003800-178004200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:178003800-178004200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:178003800-178004200	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr5:178003800-178004200	Bivalent/Poised TSS	Placenta Amnion	Placenta Amnion
42	chr5:178003800-178004400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
43	chr5:178003800-178004400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
44	chr5:178003800-178004400	Bivalent Enhancer	Esophagus	oesophagus
45	chr5:178004000-178004200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
46	chr5:178004000-178004200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
47	chr5:178004000-178004200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
48	chr5:178004000-178004200	Bivalent/Poised TSS	Ovary	ovary
49	chr5:178004000-178004400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:178004000-178004400	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood

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